Factor X Variant Database

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Full List of Variants: 180 unique variants retrieved (displaying 50 entries per page). Scroll down to navigate to the next page(s).

1 2 3 4

Terms with a '*' next to them are explained on the Help Page .

c.526_558del

p.Thr176_Gln186-

Mutation Type:

Deletion

Domain:

Activation peptide

Location:

Exon 6

Mutation Effect:

Inframe

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Epcacan et al 2015; Hu et al 2017

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
254	21	M	Turkish	4		35		Homozygous		Severe	Epistaxis, gum bleeding, hemarthrosis, hematuria, easy bruising, muscle hematoma.	Epcacan et al 2015

Structural Interpretation:

Structural analysis cannot be performed on this (Deletion | Inframe) variant.

c.535C>A

p.Arg179Ser (Legacy AA No. 139)

Mutation Type:

Point

Domain:

Linker

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

C>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Iijima et al 2001
Variant prevents FX proteolytic cleavage (as protease requires Arg at residue 179 for recognition), preventing standard FX processing. In addition, variant disrupts FX interactions with FVa and FVIIIa (FX Kurayoshi). Legacy cDNA numbering in paper - Leytus et al 1986 (c.560C>A)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
223	71	M		27		72		Homozygous		Not Reported	Severe bleeding following fracture of humerus. Related to pa_id: 224.	Iijima et al 2001
224		M		64		95		Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id:223.	Iijima et al 2001

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.535C>T

p.Arg179Cys (Legacy AA No. 139)

Mutation Type:

Point

Domain:

Linker

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

C>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

31384

Allele Frequency *:

0.000032

References and Comments:

Kim et al 1995
Variant prevents FX proteolytic cleavage (as protease requires Arg at residue 179 for recognition), preventing standard FX processing (FX Wenatchee I). Legacy cDNA numbering in paper - unknown origin (c.13984C>T)

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.556delC

Mutation Type:

Deletion

Domain:

Activation peptide

Location:

Exon 6

Mutation Effect:

Frameshift

Codon Change:

delC

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Simioni et al 2001
Frameshift mutation results in premature chain termination at residue 266. Lack of truncated product in patient plasma suggested limited synthesis or secretion of truncated protein (FX San Giovanni Rotondo).

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
377	4	M	Italian	9	72	Heterozygous	c.1344G>C (p.Lys448Asn)	Not Reported	Hematomas, epistaxis. (Severe thrombocytopenia due to acute lymphoblastic leukemia could contribute to bleeding symptoms.) Related to pa_id: 378-389.	Simioni et al 2001
379	71	M	Italian	60	54	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 377, 384-389.	Simioni et al 2001
384	43	F	Italian	8	55	Heterozygous	c.1344G>C (p.Lys448Asn)	Asymptomatic	Asymptomatic. Related to pa_id: 377, 379, 380, 385-389.	Simioni et al 2001
385	46	F	Italian	11	75	Heterozygous	c.1344G>C (p.Lys448Asn)	Asymptomatic	Asymptomatic. Related to pa_id: 377, 379, 380, 384, 386-389.	Simioni et al 2001
386	34	F	Italian	74	67	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 377, 379, 380, 384, 385, 387, 388 & 389.	Simioni et al 2001
388	21	M	Italian	11	62	Heterozygous	c.1344G>C (p.Lys448Asn)	Asymptomatic	Asymptomatic. Related to pa_id: 377-387 & 389.	Simioni et al 2001
389	16	M	Italian	70	56	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 377-388.	Simioni et al 2001

Structural Interpretation:

Structural analysis cannot be performed on this (Deletion | Frameshift) variant.

c.574G>C

p.Gly192Arg (Legacy AA No. 152)

Mutation Type:

Point

Domain:

Activation peptide

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

G>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

248970

Allele Frequency *:

0.000004

References and Comments:

Herrmann et al 2006

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.631A>C

p.Thr211Pro (Legacy AA No. 171)

Mutation Type:

Point

Domain:

Activation peptide

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

A>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Ding et al 2013
Variant prevents O-linked glycosylation of residue 211, disrupting FX activation by intrinsic Xase.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Severity	Comments	Reference
231	54	F	Chinese	108.3	91.92	Homozygous	Not Reported	Bleed in left fossa iliac, easy bruising, oral and uterine bleeding. Related to pa_id: 232-235.	Ding et al 2013
232		M	Chinese	129.3		Heterozygous	Not Reported	Related to pa_id: 231, 234 & 235.	Ding et al 2013
233		F	Chinese	134.6		Heterozygous	Not Reported	Related to pa_id: 231, 234 & 235.	Ding et al 2013
234		M	Chinese	96.1	90.7	Homozygous	Not Reported	Related to pa_id: 231, 232, 233 & 235.	Ding et al 2013
235		F	Chinese	143.2	123.5	Heterozygous	Not Reported	Related to pa_id: 231-234.	Ding et al 2013

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.706G>A

p.Val236Met (Legacy AA No. 196)

Mutation Type:

Point

Domain:

Serine Protease

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

249584

Allele Frequency *:

0.000008

References and Comments:

Shinohara et al 2008
Variant may disrupt cleavage of FX activation peptide (at Arg234-Arg235), reducing FX activity (FX Hofu).

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	Inheritance	Severity	Comments	Reference
236	20	M	Japanese	51		100	-	Asymptomatic	No bleeding history.	Shinohara et al 2008
287					52		-	Asymptomatic	Asymptomatic. (Combined FX & FVII deficiency). Related to pa_id: 288.	Pavlova et al 2015
288		M			56		-	Asymptomatic	Asymptomatic. Related to pa_id: 287.	Pavlova et al 2015

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.730G>A

p.Gly244Arg (Legacy AA No. 204)

Mutation Type:

Point

Domain:

Serine Protease

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

31382

Allele Frequency *:

0.000032

References and Comments:

Bereczky et al 2008; Matsuo et al 2017
Variant induces structural changes and interferes with FX secretion (FX Debrecen).

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
171		M	Iranian	<1	<1	Homozygous		Severe	Bleeding post-circumcision, hemarthroses. Related to pa_id: 172 & 173.	Karimi et al 2008
172		F	Iranian	50	47	Heterozygous		Not Reported	Prolonged bleeding after labour. Related to pa_id: 171.	Karimi et al 2008
173		M	Iranian	45	42	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 171.	Karimi et al 2008
237	10	M		<3	0.6	Heterozygous	c.1303G>A (p.Gly435Ser)	Severe	Severe umbilical bleeding. Related to pa_id: 238 & 239.	Matsuo et al 2017
238		M		47		Heterozygous		Asymptomatic	No history of bleeding. Related to pa_id: 237.	Matsuo et al 2017
240	1	M		1	0	Homozygous		Severe	Subdural hematoma, easy bruising. Related to pa_id: 241.	Bereczky et al 2008
241		F				Heterozygous		Not Reported	No bleeding history. Related to pa_id: 240.	Bereczky et al 2008
85	17	F	Iranian	6	7	Homozygous		Severe	Severe bleeding.	Peyvandi et al 2002
91	7	M	Iranian	0.4		-		Severe	Hemarthrosis, hematoma, gum bleeding, circumcision bleed.	Karimi et al 2012
94	27	F	Iranian	0.7		-		Severe	Menorrhagia, hemarthrosis,.	Karimi et al 2012

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.731G>A

p.Gly244Glu (Legacy AA No. 204)

Mutation Type:

Point

Domain:

Serine Protease

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

249128

Allele Frequency *:

0.000004

References and Comments:

Watzke et al 1993
(FX Vienna).

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.736T>C

p.Cys246Arg (Legacy AA No. 206)

Mutation Type:

Point

Domain:

Serine Protease

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

T>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Mitchell et al 2019
Variant disrupts disulfide bond formation, interfering with FX folding and overall structure

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
127	22	M	Spanish		<1		1	Heterozygous	c.61G>A (p.Gly21Arg)	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.752T>C

p.Leu251Pro (Legacy AA No. 211)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 7

Mutation Effect:

Missense

Codon Change:

T>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Ferrarese et al 2019
Variant disrupts native FX structure yet does not fully suppress FX secretion or activity due to conservation of residue hydrophobicity.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
242				<1		<1		Heterozygous	c.1382G>A (p.Trp461*)	Severe	Major bleeding symptoms at birth, cerebral micro-bleeds.	Ferrarese et al 2019

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.785G>A

p.Gly262Asp (Legacy AA No. 222)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 7

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

282696

Allele Frequency *:

0.000011

References and Comments:

Peyvandi et al 2002; Herrmann et al 2006; Epcacan et al 2015
Variant disrupts protein folding and may perturb FX catalytic activity due to proximity to catalytic triad.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Severity	Comments	Reference
132	20	M	Turkish		<1		14	Homozygous	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
133	19	F	Turkish		<1		10	Homozygous	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
134	14	F	Turkish		<1		15	Homozygous	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
135	17	F	Turkish		<1		12	Homozygous	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
136	17	F	Turkish		<1		5	Homozygous	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
137	12	M	Turkish		<1		14	Homozygous	Moderate	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
144	11	M	British		1.7			Homozygous	Severe	History of severe bleeding.	Mitchell et al 2019
243	14	M	Turkish	<1		35		Homozygous	Severe	Epistaxis, gum bleeding, hemarthrosis, easy brusing. Related to pa_id: 244.	Epcacan et al 2015
244	7	M	Turkish	<1		48		Homozygous	Severe	Hemarthrosis, easy bruising, intracranial hemorrhage. Related to pa_id: 243.	Epcacan et al 2015
245	16	F	Turkish	<1		27		Homozygous	Severe	Epistaxis, hemarthrosis, easy bruising, gastrointestinal bleeding, menorrhagia, muscle hematoma. Related to pa_id: 246 & 247.	Epcacan et al 2015
246	13	F	Turkish	<1		27		Homozygous	Severe	Epistaxis, hemarthrosis, hematuria, gastrointestinal bleeding, menorrhagia, muscle hematoma. Related to pa_id: 245 & 247.	Epcacan et al 2015
247	8	M	Turkish	<1		40		Homozygous	Severe	Epistaxis, gum bleeding, hemarthrosis, easy bruising, gastrointestinal bleeding. Related to pa_id: 245 & 246.	Epcacan et al 2015
248	11	F	Turkish	<1		25		Homozygous	Severe	Epistaxis, hemarthrosis, easy brusing, muscle hematoma. Related to pa_id: 249.	Epcacan et al 2015
249	27	M	Turkish	<1		33		Homozygous	Severe	Epistaxis, gum bleeding, hemarthrosis, easy bruising, gastrointestinal bleeding, intracranial hemorrhage, musclce hematoma. Died due to severe intracranial hemorrhage and oedema. Related to pa_id: 248.	Epcacan et al 2015
250	8	M	Turkish	<1		19		Homozygous	Severe	Epistaxis, hematuria, easy bruising, gastrointestinal bleeding. Related to pa_id: 251.	Epcacan et al 2015
251	4	M	Turkish	<1		25		Homozygous	Severe	Epistaxis, easy bruising. Related to pa_id: 250.	Epcacan et al 2015
252	18	F	Turkish	<1		18		Homozygous	Severe	Epistaxis, gum bleeding, hemarthrosis, easy bruising, gastrointestinal bleeding, menorrhagia.	Epcacan et al 2015
253	3	M	Turkish	<1		34		Homozygous	Severe	Epistaxis, gum bleeding, hemarthrosis, hematuria, easy bruising, gastrointestinal bleeding, intracranial hemorrhage.	Epcacan et al 2015
86	18	M	Iranian	<1		10		Homozygous	Severe	Hematomas, hemarthrosis, hematuria, epistaxis.	Peyvandi et al 2002
87	13	M	Iranian	<1		15		Homozygous	Severe	Epistaxis, gastrointestinal bleeding.	Peyvandi et al 2002

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.787G>A

p.Gly263Arg (Legacy AA No. 223)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 7

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Jayandharan et al 2005
Introduction of positive charge may disrupt protein folding and perturb catalytic triad.

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.788G>T

p.Gly263Val (Legacy AA No. 223)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 7

Mutation Effect:

Missense

Codon Change:

G>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Morishita et al 2001; Uprichard & Perry 2002
(FX Ohmura).

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.792C>T

p.Thr264= (Legacy AA No. 224)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 7

Mutation Effect:

Silent

Codon Change:

C>T

No. of Patients Reported:

Phenotype:

None

Allele Count *:

213029

Allele Number *:

282526

Allele Frequency *:

0.754016

References and Comments:

Miyata et al 1998; Deam et al 2001; Iijima et al 2001; Shikata et al 2004
Polymorphism.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
1	12	F		4	7	Heterozygous	c.1A>G (p.Met1Val)c.1030C>T (p.Pro344Ser)	Asymptomatic	No history of bleeding. Related to pa_id: 2 & 3.	Miyata et al 1998
12	9	M	Indian	<1	<1	Homozygous	c.854A>T (p.Lys285Met)	Not Reported	Echymosis, circumcision bleed.	Mota et al 2010
14	12	M	Indian	<1		Homozygous	c.863T>C (p.Val288Ala)	Not Reported	Epistaxis.	Mota et al 2010
15	9	M	Indian	<1		-	c.-40C>T ( )c.-221C>A ( )	Not Reported	Hemetemesis, hemarthrosis, dental extraction bleed, CNS bleed.	Mota et al 2010
16	21	F	Indian	<1	<1	Heterozygous	c.1061T>G (p.Met354Arg)c.-40C>T ( )	Not Reported	Menorrhagia, mucosal bleeds.	Mota et al 2010
18	1	M	Indian	<1		-		Not Reported	Mucosal bleeds.	Mota et al 2010
19	10	F	Indian	<1		Heterozygous	c.22G>T (p.Val8Phe)c.1066C>T (p.Gln356*)	Severe	Hemarthrosis, spontaneous bleeds.	Mota et al 2010
4	25	F	Indian	1.5	46	Homozygous	c.863T>C (p.Val288Ala)	Not Reported	Echymosis, menorrhagia.	Mota et al 2010

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Silent) variant.

c.813delC

Mutation Type:

Deletion

Domain:

Serine protease

Location:

Exon 7

Mutation Effect:

Frameshift

Codon Change:

delC

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Reddy et al 1989
Deletion causes frameshift and premature chain termination. Truncated product is non-functional (FX San Antonio). Legacy cDNA numbering in paper - Leytus et al 1986 (c.838delC)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
306				14		36		Heterozygous	c.1096C>T (p.Arg366Cys)	Not Reported	Postoperative bleeding.	Reddy et al 1989

Structural Interpretation:

Structural analysis cannot be performed on this (Deletion | Frameshift) variant.

c.824C>T

p.Ala275Val (Legacy AA No. 235)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 7

Mutation Effect:

Missense

Codon Change:

C>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Sun et al 2016
Variant may disrupt FX folding and activity due to its proximity to the catalytic triad. Variant possibly interferes with FX translocation from ER to Golgi.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
263	28	F	Chinese	1.4		7.3		Homozygous		Severe	Gum bleeding, nose bleeding, skin ecchymosis, severe menstrual bleeding, post-partum hemorrhage. Related to pa_id: 264.	Sun et al 2016
264		F	Chinese	46.2		23.6		Heterozygous		Not Reported	Bleeding history but mild. Related to pa_id: 263.	Sun et al 2016

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.854A>T

p.Lys285Met (Legacy AA No. 245)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 7

Mutation Effect:

Missense

Codon Change:

A>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Mota et al 2010
Legacy cDNA numbering in paper - unknown origin (c.857A>T)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
12	9	M	Indian	<1		<1		Homozygous	c.792C>T (p.Thr264=)	Not Reported	Echymosis, circumcision bleed.	Mota et al 2010

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.856G>A

p.Val286Met (Legacy AA No. 246)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 7

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Perry 1997; Hainmann et al 2009

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
265	15	F		<1				Heterozygous	Undefined cDNA - deletion (Exon 6) ( )	Severe	Microcytic anemia, tooth bleeding, hemarthrosis, hematomas. Related to pa_id: 266.	Hainmann et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.863T>C

p.Val288Ala (Legacy AA No. 248)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 7

Mutation Effect:

Missense

Codon Change:

T>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Mota et al 2010; Shetty, Mota & Ghosh 2010
Variant has limited effect of native FX interactions but likely to disrupt FX function due to localisation in catalytic site. Legacy cDNA numbering in paper - unknown origin (c.866T>C)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
14	12	M	Indian	<1		Homozygous	c.792C>T (p.Thr264=)	Not Reported	Epistaxis.	Mota et al 2010
267	25	F		<1	46	Homozygous		Not Reported	Ecchymosis, menorrhagia, gastrointestinal bleeds. (Carrier of FV Leiden).	Shetty, Mota & Ghosh 2010
268	22	M		<1	50	Homozygous		Not Reported	Epistaxis.	Shetty, Mota & Ghosh 2010
4	25	F	Indian	1.5	46	Homozygous	c.792C>T (p.Thr264=)	Not Reported	Echymosis, menorrhagia.	Mota et al 2010

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.865G>C

p.Gly289Arg (Legacy AA No. 249)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 7

Mutation Effect:

Missense

Codon Change:

G>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Millar et al 2000

Patient Information: Show

Patient_ID	Gender	FX:C(%)	FX:Ag(%)	Inheritance	Severity	Comments	Reference
37		60	53	Heterozygous	Moderate	Uterine bleeding. Related to pa_id: 38 & 39.	Millar et al 2000
38	M	39	49	Heterozygous	Moderate	Hematoma. Related to pa_id: 37 & 39.	Millar et al 2000
39		45	51	Heterozygous	Not Reported	Epistaxis. Related to pa_id: 37 & 38.	Millar et al 2000

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.871C>T

p.Arg291Trp (Legacy AA No. 251)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

C>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

282488

Allele Frequency *:

0.000021

References and Comments:

Girolami et al 2004
Variant changes local electrostatic potential within FX. Also variant might alter conformation of Ca2+ binding site in the serine protease domain, potentially exposing protease domain to proteolytic cleavage (FX Padua). Legacy cDNA numbering in paper - unknown origin (c.875C>T)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
269	56	F			30			Homozygous		Asymptomatic	No bleeding history. Related to pa_id: 270.	Girolami et al 2004
270		F						Heterozygous		Not Reported	Related to pa_id: 269.	Girolami et al 2004

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.882_883dupC

Mutation Type:

Insertion

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Frameshift

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Shen et al 2004
Frameshift mutation results in premature stop codon at residue 300. Truncated protein product lacks active site and catalytic region, thus is non-functional.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
357	8	F	Chinese	<1	45.3	Heterozygous	c.1216G>A (p.Gly406Ser)	Severe	Easy bruising, nasal bleeding, recurrent pain and swelling of ankles and knee. Related to pa_id: 358, 359 & 360.	Shen et al 2004
358	40	M	Chinese	53	48	Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 357 & 360.	Shen et al 2004
360	5	M	Chinese	51	40	Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 357, 358 & 359.	Shen et al 2004

Structural Interpretation:

Structural analysis cannot be performed on this (Insertion | Frameshift) variant.

c.894C>T

p.Gly298= (Legacy AA No. 258)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Silent

Codon Change:

C>T

No. of Patients Reported:

Phenotype:

None

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Borhany et al 2018
Polymorphism. Silent mutation.

Patient Information: Show

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Silent) variant.

c.910G>A

p.Glu304Lys (Legacy AA No. 264)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251188

Allele Frequency *:

0.000004

References and Comments:

Millar et al 2000
Substitution of negatively charged residue for positively charged residue.

Patient Information: Show

Patient_ID	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
56	68	74	Heterozygous	c.-40C>T ( )	Asymptomatic	Asymptomatic. Related to pa_id: 57, 58, 59 & 60.	Millar et al 2000
59		84	Heterozygous		Asymptomatic	Related to pa_id: 56, 57, 58 & 60.	Millar et al 2000
60	66	64	Heterozygous		Asymptomatic	Related to pa_id: 56, 57, 58 & 59.	Millar et al 2000

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.955T>C

p.Tyr319His (Legacy AA No. 279)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

T>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Mitchell et al 2019
Variant likely to disrupt catalytic activity of FX due to localisation within catalytic domain.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
139	59	M	British		6		55	Heterozygous	c.71-1G>C ( )	Mild	History of unusual bleeding.	Mitchell et al 2019

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.964G>A

p.Asp322Asn (Legacy AA No. 282)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Messier et al 1996; Millar et al 2000; Herrmann et al 2006
Substitution of active site Asp for Asn significantly affects FX catalytic activity (FX Stockton).

Patient Information: Show

Patient_ID	Gender	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
271	F	43	101	Heterozygous		Not Reported	Bleeding post-labour. Related to pa_id: 272-284.	Messier et al 1996
272	M	60	78	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271, 273-284.	Messier et al 1996
273	M	39	96	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271, 272, 274-284.	Messier et al 1996
274	F	70	75	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271, 272, 273, 275-284.	Messier et al 1996
275	F	64	75	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-274, 276-284.	Messier et al 1996
276	F	45	58	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-275, 277-284.	Messier et al 1996
277	F	31	98	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-276, 278-284.	Messier et al 1996
278	F	61	114	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-277, 279-284.	Messier et al 1996
279	F	66	74	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-278, 280-284.	Messier et al 1996
280	F	40	79	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-279, 281-284.	Messier et al 1996
281	M	60	96	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-280, 282, 283 & 284.	Messier et al 1996
282	M	52	71	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-281, 283 & 284.	Messier et al 1996
283	M	38	48	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-282 & 284.	Messier et al 1996
284	M	42	78	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-283.	Messier et al 1996
66		6		Heterozygous	c.979C>T (p.Arg327Trp)	Not Reported		Millar et al 2000

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.979C>T

p.Arg327Trp (Legacy AA No. 287)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

C>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

282566

Allele Frequency *:

0.000025

References and Comments:

Cooper et al 1997; Millar et al 2000; Girolami et al 2011
Variant changes overall FX electrostatic potential, disrupting FVa binding.

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1012G>A

p.Val338Met (Legacy AA No. 298)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

282434

Allele Frequency *:

0.000007

References and Comments:

Millar et al 2000; Ingerslev et al 2007; Girolami et al 2011
Variant induces a conformational change to minimise steric clash with bulky Met residue, resulting in misfolding of FX (Stuart Factor).

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
119	11	M	Caucasian		<1		66	Heterozygous	c.166G>A (p.Glu56Lys)	Severe	Hemarthrosis of knee joint. Related to pa_id: 120, 121 & 122.	Ingerslev et al 2007
120	8	F	Caucasian		<1		37	Heterozygous	c.166G>A (p.Glu56Lys)	Severe	Risk of intracranial bleeding during birth. Mucosal and joint bleeds. Related to pa_id: 119, 121 & 122.	Ingerslev et al 2007
121		F	Caucasian		47		89	-		Asymptomatic	Asymptomatic. Related to pa_id: 119 & 120.	Ingerslev et al 2007
124	32	F	British		<1		5	Heterozygous	c.1151_1167delACGTGGACCGCAACAG ( p.Tyr384LeufsTer57)	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
345	36	M	Italian					Homozygous		Severe	Epistaxis, hematomas, hemarthrosis, severe anemia.	Hougie, Barrow & Graham 1957
45				<1		2		Heterozygous	c.1151_1167delACGTGGACCGCAACAG ( p.Tyr384LeufsTer57)	Moderate	Significant hemorrhagic symptoms. Related to pa_id: 46, 47, 48 & 49.	Millar et al 2000
46		F		41		38		Heterozygous		Not Reported	Related to pa_id:45, 48 & 49.	Millar et al 2000
48				28		34		Heterozygous		Not Reported	Relaed to pa_id: 45, 46, 47 & 49.	Millar et al 2000
49				41		39		Heterozygous		Not Reported	Related to pa_id: 45, 46, 47 & 48.	Millar et al 2000

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1015G>A

p.Ala339Thr (Legacy AA No. 299)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Pavlova et al 2015

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
291					57			Heterozygous		Not Reported	Postoperative bleeding. (Combined FX & FVII deficiency). Related to pa_id: 292.	Pavlova et al 2015
292		F			56			Heterozygous		Not Reported	Bleeding postpartum, easy bruising. (Combined FX & FVII deficiency). Related to pa_id: 291.	Pavlova et al 2015

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1030C>T

p.Pro344Ser (Legacy AA No. 304)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

C>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Miyata et al 1998
Variant destabilizes FX hydrophobic core, disrupting interactions between EGF-2 and protease domains, leading to impaired secretion (FX Nice II).

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
1	12	F		4		7		Heterozygous	c.1A>G (p.Met1Val)c.792C>T (p.Thr264=)	Asymptomatic	No history of bleeding. Related to pa_id: 2 & 3.	Miyata et al 1998
3		F		57		60		Heterozygous		Not Reported	Related to pa_id 1.	Miyata et al 1998

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1036C>T

p.Arg346Cys (Legacy AA No. 306)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

C>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

250750

Allele Frequency *:

0.000004

References and Comments:

Miyata et al 1998
(FX Nagoya I).

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1048G>A

p.Glu350Lys (Legacy AA No. 310)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Millar et al 2000

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
126	58	F	Spanish		<1		77	Heterozygous	c.1348G>A (p.Gly450Arg)	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
70				8		10		Heterozygous		Not Reported	Related to pa_id: 71.	Millar et al 2000
71				34				Heterozygous		Not Reported	Related to pa_id: 70.	Millar et al 2000

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1061T>G

p.Met354Arg (Legacy AA No. 314)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

T>G

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Mota et al 2010
Variant has limited effect of native FX interactions but likely to disrupt FX function due to localisation in catalytic site. Legacy cDNA numbering in paper - unknown origin (c.1064T>G)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
16	21	F	Indian	<1		<1		Heterozygous	c.792C>T (p.Thr264=)c.-40C>T ( )	Not Reported	Menorrhagia, mucosal bleeds.	Mota et al 2010

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1066C>T

p.Gln356* (Legacy AA No. 316)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Nonsense

Codon Change:

C>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Mota et al 2010
Legacy cDNA numbering in paper - unknown origin (c.1069C>T)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
19	10	F	Indian	<1				Heterozygous	c.22G>T (p.Val8Phe)c.792C>T (p.Thr264=)	Severe	Hemarthrosis, spontaneous bleeds.	Mota et al 2010

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Nonsense) variant.

c.1073C>T

p.Thr358Met (Legacy AA No. 318)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

C>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

250316

Allele Frequency *:

0.000016

References and Comments:

De Stefano et al 1988; Odom et al 1994; Millar et al 2000
Variant disrupts FX catalytic activity without interfering with FX structure (FX Roma). Legacy cDNA numbering in paper - Leytus et al 1986 (c.1098C>T)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
295			3		Homozygous		Not Reported		Odom et al 1994
296	13	F		80	Homozygous		Not Reported	Post-traumatic hematoma, severe tonsillar bleeding, easy bruising, epistaxis. Related to pa_id: 297 & 298.	De Stefano et al 1988
297		M		80	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 296.	De Stefano et al 1988
298		F		100	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 296.	De Stefano et al 1988
34			<1	64	Heterozygous	c.1087G>A (p.Gly363Ser)	Severe	Haemarthroses. Related to pa_id: 35 & 36.	Millar et al 2000
36		M		113	Heterozygous		Not Reported	Related to pa_id: 34.	Millar et al 2000
40			<1	100	Homozygous		Mild	Epistaxis.	Millar et al 2000

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1085G>A

p.Ser362Asn (Legacy AA No. 322)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Lu et al 2020
Variant likely destabilizes structure of catalytic site, diminishing FX activity and limiting secretion.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
299	63	M	Chinese	1.7	40.85	Heterozygous	c.1152C>A (p.Tyr384*)	Severe	Subdural hemorrhage after fall, history of moderate bleeding following trauma. Related to pa_id: 300-305.	Lu et al 2020
300	93	F	Chinese	32.2	52.83	Heterozygous		Mild	No bleeding history. Related to pa_id: 299, 301-305.	Lu et al 2020
303	52	M	Chinese	1.3	46.55	Heterozygous	c.1152C>A (p.Tyr384*)	Severe	Severe gastrointestinal bleeding. Related to pa_id: 299-302, 304 & 305.	Lu et al 2020
304	55	M	Chinese	58.5	58.25	Heterozygous		Mild	No bleeding history. Related to pa_id: 299-303 & 305.	Lu et al 2020
305	68	F	Chinese	65.9	55.55	Heterozygous		Mild	No bleeding history. Related to pa_id: 299-304.	Lu et al 2020

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1087G>A

p.Gly363Ser (Legacy AA No. 323)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Millar et al 2000
Substitution of Gly with larger residue leads to conformational change and protein misfolding.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
34				<1	64	Heterozygous	c.1073C>T (p.Thr358Met)	Severe	Haemarthroses. Related to pa_id: 35 & 36.	Millar et al 2000
35		F		61	81	Heterozygous		Not Reported	Related to pa_id: 34.	Millar et al 2000
93	6	M	Iranian	0		-		Severe	Hemarthrosis, hematoma, gastrointestinal bleeding, epistaxis, gum bleeding.	Karimi et al 2012

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1096C>T

p.Arg366Cys (Legacy AA No. 326)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

C>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

249940

Allele Frequency *:

0.000004

References and Comments:

Reddy et al 1989
Variant likely disrupts structure of catalytic region e.g. by disrupting disulfide bond formation, diminishing FX activity (FX San Antonio). Legacy cDNA numbering in paper - Leytus et al 1986 (c.1121C>T)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
306				14		36		Heterozygous	c.813delC ( )	Not Reported	Postoperative bleeding.	Reddy et al 1989

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1097G>A

p.Arg366His (Legacy AA No. 326)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

281278

Allele Frequency *:

0.000032

References and Comments:

Rath et al 2015

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1105G>A

p.Glu369Lys (Legacy AA No. 329)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Rath et al 2015

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1107G>T

p.Glu369Asp (Legacy AA No. 329)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

G>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Pavlova et al 2015

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
290					25			-	c.1108A>T (p.Lys370*)	Not Reported	(Combined FX & FVII deficiency).	Pavlova et al 2015

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1108A>T

p.Lys370* (Legacy AA No. 330)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Nonsense

Codon Change:

A>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Pavlova et al 2015

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
290					25			-	c.1107G>T (p.Glu369Asp)	Not Reported	(Combined FX & FVII deficiency).	Pavlova et al 2015

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Nonsense) variant.

c.1120C>T

p.Ser374Pro (Legacy AA No. 334)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

C>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Bernardi et al 1994; Bezeaud et al 1995; Marchetti et al 1995; Vianello et al 2001
Variant reduces FX activation by FIXa and RVV-X, possibly by hindering FX recognition (FX Marseille).

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
216	49	M		23	80	Homozygous		Asymptomatic	No family history of bleeding.	Marchetti et al 1995
217	14	M		54	72	Heterozygous	c.424G>A (p.Glu142Lys)	Asymptomatic	No family history of bleeding. Related to pa_id: 219.	Marchetti et al 1995
218	15			55	106	Heterozygous		Not Reported		Marchetti et al 1995
219		F		68	66	Heterozygous	c.424G>A (p.Glu142Lys)	Asymptomatic	No family history of bleeding. Related to pa_id: 217.	Marchetti et al 1995
307	55	F		21		Homozygous		Asymptomatic	No bleeding history.	Bezeaud et al 1995
308		M		55	90	Heterozygous		Not Reported	Related to pa_id: 310-313.	Bernardi et al 1994
309		F		61	100	Heterozygous		Not Reported	Related to pa_id: 310-313.	Bernardi et al 1994
310		M		15	80	Homozygous		Not Reported	Related to pa_id: 308, 309, 311, 312 & 313.	Bernardi et al 1994
311		M		13	80	Homozygous		Not Reported	Related to pa_id: 308, 309, 310, 312 & 313.	Bernardi et al 1994
312		M		55	90	Heterozygous		Not Reported	Related to pa_id: 308-311 & 313.	Bernardi et al 1994
313		M		43	80	Heterozygous		Not Reported	Related to pa_id: 308-312.	Bernardi et al 1994
314	32	F	Italian	8.2	40	Heterozygous	c.1258G>A (p.Gly420Arg)	Asymptomatic	No bleeding history. Related to pa_id: 315-318.	Vianello et al 2001
316	61	F	Italian	78	87	Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 314, 317 & 318.	Vianello et al 2001
317	28	F	Italian	66	82	Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 314, 315, 316 & 318.	Vianello et al 2001

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1141delG

Mutation Type:

Deletion

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Frameshift

Codon Change:

delG

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Rath et al 2015

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
215			German	50				Heterozygous		Not Reported	Combined FX and FVII deficiency. Asymptomatic.	Rath et al 2015

Structural Interpretation:

Structural analysis cannot be performed on this (Deletion | Frameshift) variant.

c.1145T>C

p.Val382Ala (Legacy AA No. 342)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

T>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Pinotti et al 2004; Girolami et al 2018

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
319	51	M		73				Heterozygous		Not Reported		Pinotti et al 2004

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1147C>T

p.Pro383Ser (Legacy AA No. 343)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

C>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Girolami et al 1970; James, Girolami & Fair 1991; Girolami et al 2018
Variant (Ser) likely interacts with nearby Thr318 through H-bonding, inducing conformational change in FX structure, changing structure of catalytic region, hindering FX activation (FX Friuli).

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
289					2		Heterozygous	Undefined cDNA - deletion (Exons 1-6) ( )	Not Reported	Epistaxis gum bleeding, severe postoperative bleeding. (Combined FX & FVII deficiency).	Pavlova et al 2015
320	90	M	Italian	3		90	Homozygous		Moderate		Girolami et al 2018
321	67	M	Italian	3.5		100	Homozygous		Moderate		Girolami et al 2018
322	52	M	Italian	5.1		95	Homozygous		Moderate		Girolami et al 2018
323	76	F	Italian	4.2		105	Homozygous		Moderate		Girolami et al 2018
324	44	M	Italian	4		96	Homozygous		Moderate		Girolami et al 2018
325	56	M	Italian	5.6		100	Homozygous		Moderate		Girolami et al 2018
326	67	F	Italian	7			Homozygous		Severe	Bleeding history (epistaxis, gum bleeding, post-traumatic hemarthrosis). Related to pa_id: 327-341.	Girolami et al 1970
327	40	M	Italian	8			Homozygous		Severe	Bleeding history (epistaxis, post-traumatic hemarthrosis and hematoma, ocular and orbital hemorrhage, meleana and hematemesis, gum bleeding, severe bleeding following tooth extraction ). Related to pa_id: 326, 328-341.	Girolami et al 1970
328	46	M	Italian	4			Homozygous		Severe	Bleeding history (epistaxis, bruising, post-traumatic hematomas, bleeding after tooth extraction, severe bleeding after small cuts and wounds). Related to pa_id: 326, 327, 329-341.	Girolami et al 1970
329	70	F	Italian	52			Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 326, 327, 328, 330-341.	Girolami et al 1970
330	68	F	Italian	44			Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 326-329, 331-341.	Girolami et al 1970
331	68	F	Italian	44			Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 326-330, 332-341.	Girolami et al 1970
332	29	M	Italian	36			Heterozygous		Not Reported	Excessive bleeding after tonsillectomy. Related to pa_id: 326-331, 333-341.	Girolami et al 1970
333	35	M	Italian	42			Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 326-332, 334-341.	Girolami et al 1970
334	40	M	Italian	55			Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 326-333, 335-341.	Girolami et al 1970
335	34	M	Italian	40			Heterozygous		Not Reported	Epistaxis in childhood. Related to pa_id: 326-334, 336-341.	Girolami et al 1970
336	40	F	Italian	45			Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 326-335, 337-341.	Girolami et al 1970
337	26	M	Italian	46			Heterozygous		Not Reported	Excessive bleeding after tooth extraction. Related to pa_id: 326-336, 338-341.	Girolami et al 1970
338	34	F	Italian	32			Heterozygous		Not Reported	Excessive bleeding after tooth extraction. Related to pa_id: 326-337, 339, 340 & 341.	Girolami et al 1970
339	11	M	Italian	40			Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 326-338, 340 & 341.	Girolami et al 1970
340	9	F	Italian	40			Heterozygous		Not Reported	Excessive bleeding after tooth extraction. Related to pa_id: 326-339 & 341.	Girolami et al 1970
341	12	M	Italian	35			Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 326-340.	Girolami et al 1970
397		F		7		100	Homozygous		Not Reported	Related to pa_id: 398.	Bernardi et al 1989
398		F		45		88	Heterozygous		Not Reported	Related to pa_id: 397.	Bernardi et al 1989

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1151_1167delACGTGGACCGCAACAG

p.Tyr384LeufsTer57-

Mutation Type:

Deletion

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Frameshift

Codon Change:

delACGTGGACCGCAACAGC

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

250568

Allele Frequency *:

0.000004

References and Comments:

Millar et al 2000
Deletion causes frameshift and premature chain termination at residue 439. Truncated protein product is unstable and rapidly degraded.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
124	32	F	British		<1		5	Heterozygous	c.1012G>A (p.Val338Met)	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
45				<1		2		Heterozygous	c.1012G>A (p.Val338Met)	Moderate	Significant hemorrhagic symptoms. Related to pa_id: 46, 47, 48 & 49.	Millar et al 2000
47		M		37		55		Heterozygous		Not Reported	Related to pa_id: 45, 48 & 49.	Millar et al 2000

Structural Interpretation:

Structural analysis cannot be performed on this (Deletion | Frameshift) variant.

c.1151A>T

p.Tyr384Phe (Legacy AA No. 344)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

A>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Fung, Hay & MacGillivray 1985
Legacy cDNA numbering in paper - Leytus et al 1986 (c.1176A>T)

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1151A>G

p.Tyr384Cys (Legacy AA No. 344)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

A>G

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

250544

Allele Frequency *:

0.000008

References and Comments:

Herrmann et al 2006; Girolami et al 2018

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

1 2 3 4

Factor X Variant Database

Factor X Gene (F10)

Variant Database

Data Export Options:

UNIQUE (Without Patient Data) : EXCEL/CSV TABULAR MULTIPLE (With Patient Data) : EXCEL/CSV TABULAR

Full List of Variants: 180 unique variants retrieved (displaying 50 entries per page). Scroll down to navigate to the next page(s).

References and Comments:

Patient Information: Show

Structural Interpretation:

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Patient Information: Show

Structural Interpretation:

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Patient Information: Show

Structural Interpretation:

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Structural Interpretation:

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Structural Interpretation:

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Structural Interpretation:

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Structural Interpretation:

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Structural Interpretation:

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Structural Interpretation:

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Structural Interpretation:

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Structural Interpretation:

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Structural Interpretation:

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Structural Interpretation:

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Structural Interpretation:

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Structural Interpretation:

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Patient Information: Show

Structural Interpretation:

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Patient Information: Show

Structural Interpretation:

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Structural Interpretation:

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Structural Interpretation:

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Structural Interpretation:

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Structural Interpretation:

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Patient Information: Show

Structural Interpretation:

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Patient Information: Show

Structural Interpretation:

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Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR