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).

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

c.1152C>A

p.Tyr384* (Legacy AA No. 344)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Nonsense

Codon Change:

C>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

250574

Allele Frequency *:

0.000004

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.1085G>A (p.Ser362Asn)	Severe	Subdural hemorrhage after fall, history of moderate bleeding following trauma. Related to pa_id: 300-305.	Lu et al 2020
301	34	F	Chinese	48.3	49.03	Heterozygous		Mild	No bleeding history. Related to pa_id: 299, 300, 302-305.	Lu et al 2020
302	6	M	Chinese	45.6	36.89	Heterozygous		Mild	No bleeding history. Related to pa_id: 299, 300, 301, 303, 304 & 305.	Lu et al 2020
303	52	M	Chinese	1.3	46.55	Heterozygous	c.1085G>A (p.Ser362Asn)	Severe	Severe gastrointestinal bleeding. Related to pa_id: 299-302, 304 & 305.	Lu et al 2020

Structural Interpretation:

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

c.1159C>T

p.Arg387Cys (Legacy AA No. 347)

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 *:

250644

Allele Frequency *:

0.000008

References and Comments:

Herrmann et al 2006; 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
26	37	M		6.2		36.9		Heterozygous	Undefined cDNA (A275T) (p.Ala275Thr)	Severe	Gum bleeds, excessive bleeding following surgery, hemarthrosis.	Liang et al 2013

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1160G>A

p.Arg387His (Legacy AA No. 347)

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:

Wang et al 2004; Wang et al 2005; Girolami et al 2018
Legacy cDNA numbering in Wang 2004 paper - Leytus et al 1986 (c.1185G>A)

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1169G>T

p.Cys390Phe (Legacy AA No. 350)

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 *:

250742

Allele Frequency *:

0.000008

References and Comments:

Vianello et al 2003; Herrmann et al 2006; Girolami et al 2009; Girolami et al 2018
Variant disrupts disulfide bond formation in catalytic region (Cys390-Cys404), altering FX structure and function.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Severity	Comments	Reference
342	5	M	Italian	4.7	<5	Homozygous	Not Reported	Severe anemia (due to rectal bleeding), intraventricular brain bleed. Related to pa_id: 343 & 344.	Vianello et al 2003
343	40	M	Italian	59	46	Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 342.	Vianello et al 2003
344	38	F	Italian	48	45	Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 342.	Vianello et al 2003

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1180A>C

p.Ser394Arg (Legacy AA No. 354)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

A>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Jayandharan et al 2005
Introduction of Arg, a larger and positively charged residue, alters the electrostatic potential within the catalytic domain and has a steric effect, disrupting FX structure and function.

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1187T>G

p.Phe396Cys (Legacy AA No. 356)

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:

Deam et al 2004
Variant interferes with native disulfide bond formation, disrupting native FX folding. FX catalytic activity unaffected by variant.

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
352		M			3		25	Heterozygous	c.140A>G (p.Glu47Gly)	Asymptomatic	No history of bleeding. Related to pa_id: 353 & 354.	Deam et al 2004
354		M			51		60	Heterozygous		Asymptomatic	No history of bleeding. Related to pa_id: 352.	Deam et al 2004

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1210T>C

p.Cys404Arg (Legacy AA No. 364)

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:

Millar et al 2000; Todd et al 2006
Variant interferes with native disulfide bond formation, disrupting native FX folding and stability.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	Inheritance	Severity	Comments	Reference
145	2	F	British		2		Homozygous	Severe	History of severe bleeding.	Mitchell et al 2019
147	11	F	British		<1		Homozygous	Severe	History of severe bleeding.	Mitchell et al 2019
350			Iranian		4		Homozygous	Severe	Extenisve bleeding, hematomas.	Todd et al 2006
43				48		31	Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 44.	Millar et al 2000
44		M		64		52	Heterozygous	Asymptomatic	Related to pa_id: 43.	Millar et al 2000

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1216G>A

p.Gly406Ser (Legacy AA No. 366)

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 *:

250966

Allele Frequency *:

0.000004

References and Comments:

Miyata et al 1998; Millar et al 2000; Shen et al 2004; Isshiki et al 2005; Borhany et al 2018
Introduction of Ser, a larger hydrophilic residue, may affect substrate-binding and lead to loss of FX activity (FX Nagoya II).

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
32	15	F	Pakistani	2			Homozygous		Severe	Oral bleeding, menorrhagia, easy bruising.	Borhany et al 2018
346	11	F	French		1	67	Homozygous		Severe	Severe bleeding. Post-traumatic hematoma, bleeding following tooth extraction, menorrhagia, anemia. Related to pa_id: 347, 348 & 349.	Isshiki et al 2005
347		M	French		58	89	Heterozygous		Not Reported	Related to pa_id: 346 & 349.	Isshiki et al 2005
348		F	French		53	88	Heterozygous		Not Reported	Related to pa_id: 346 & 349.	Isshiki et al 2005
349		F	French		52	80	Heterozygous		Not Reported	Related to pa_id: 346, 347 & 348.	Isshiki et al 2005
357	8	F	Chinese	<1		45.3	Heterozygous	c.882_883dupC ( )	Severe	Easy bruising, nasal bleeding, recurrent pain and swelling of ankles and knee. Related to pa_id: 358, 359 & 360.	Shen et al 2004
359	36	F	Chinese	50		59	Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 357 & 360.	Shen et al 2004
5	28	F	Indian	<1		90	Homozygous		Severe	Gum bleeds, menorrhagia. Related to pa_id: 6.	Mota et al 2010
6	31	M	Indian	<1		100	Homozygous		Severe	Psoas bleed. Related to pa_id: 5.	Mota et al 2010
61			Caucasian	38		94	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 62, 63, 64 & 65.	Millar et al 2000
62		F	Caucasian	54		102	Heterozygous		Not Reported	Related to pa_id: 61, 63, 64 & 65.	Millar et al 2000
63		F	Caucasian	64		115	Heterozygous		Not Reported	Related to pa_id: 61, 62, 64 & 65.	Millar et al 2000
64		F	Caucasian	80			Heterozygous		Not Reported	Related to pa_id: 61, 62, 63 & 65.	Millar et al 2000
65			Caucasian	53		145	Heterozygous		Not Reported	Related to pa_id: 61, 62, 63 & 64.	Millar et al 2000

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1222G>A

p.Asp408Asn (Legacy AA No. 368)

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 *:

282332

Allele Frequency *:

0.000050

References and Comments:

Camire et al 2001; Uprichard & Perry 2002

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1231C>T

p.Gln411* (Legacy AA No. 371)

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:

Mitchell et al 2019
Premature chain termination.

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
131	16	M	American		<1		<1	Heterozygous	Undefined cDNA - deletion (Exon 2) ( )	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019

Structural Interpretation:

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

c.1247A>T

p.Gln416Leu (Legacy AA No. 376)

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 *:

282282

Allele Frequency *:

0.000014

References and Comments:

Hu et al 2017; Mitchell et al 2019
Variant likely disrupts FX activity without disturbing native structure 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
140	55	M	American		8		48	Heterozygous	c.268T>C (p.Cys90Arg)	Mild	History of unusual bleeding.	Mitchell et al 2019

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1253A>G

p.Asp418Gly (Legacy AA No. 378)

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 *:

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
214			Sri Lankan	35				Heterozygous		Not Reported	Combined FX and FVII deficiency. Asymptomatic.	Rath et al 2015

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1258G>A

p.Gly420Arg (Legacy AA No. 380)

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 *:

250784

Allele Frequency *:

0.000064

References and Comments:

Vianello et al 2001; Herrmann et al 2005; Herrmann et al 2006; Borhany et al 2018
Basic side chain of substituted Arg may interact with and disrupt function of catalytic triad (FX Padua 3).

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
225		M	Costa Rican	<1		Homozygous		Severe	Intracranial hemorrhage, gastrointestinal hemorrhage, hematomas.	Herrmann et al 2005
226		M	Costa Rican	<1	<1	Homozygous		Severe	Intracranial hemorrhage, epistaxis, hematomas, hematuria.	Herrmann et al 2005
227		M	Costa Rican	<1	<1	Homozygous		Severe	Intracranial hemorrhage, gastrointestinal hemorrhage, easy bruising.	Herrmann et al 2005
228		F	Costa Rican	<1		Homozygous		Severe	Intracranial hemorrhage.	Herrmann et al 2005
229		M	Costa Rican	<2		Homozygous		Severe	Intracranial hemorrhage, gingival hemorrhage, easy bruising, hematomas.	Herrmann et al 2005
230		M	Costa Rican	<1	<1	Homozygous		Severe	Gastrointestinal hemorrhage, gingival hemorrhage, easy bruising.	Herrmann et al 2005
31	3	F	Pakistani	<2		Heterozygous	c.169T>C (p.Cys57Arg)	Severe	Umbilical cord bleed, hemarthrosis, intracranial hemorrhage, hemoptysis.	Borhany et al 2018
314	32	F	Italian	8.2	40	Heterozygous	c.1120C>T (p.Ser374Pro)	Asymptomatic	No bleeding history. Related to pa_id: 315-318.	Vianello et al 2001
315	64	M	Italian	76	65	Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 314, 317 & 318.	Vianello et al 2001
318	30	M	Italian	58	43	Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 314-317.	Vianello et al 2001

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1262G>A

p.Gly421Asp (Legacy AA No. 381)

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 *:

282144

Allele Frequency *:

0.000018

References and Comments:

Camire et al 2001; Uprichard & Perry 2002; Pinotti et al 2003
Bulky charged nature of Asp side-chain disrupts key active site interactions, disrupting FX activity and function.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Severity	Comments	Reference
174			Iranian	<1	18	Homozygous	Not Reported	Hematomas, hematuria. Related to pa_id: 175, 176 & 177.	Karimi et al 2008
175		F	Iranian	<1	29	Homozygous	Not Reported	Gum bleeding, epistaxis, menorrhagia. Related to pa_id: 174, 176 & 177.	Karimi et al 2008
176		F	Iranian	39	37	Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 174, 175 & 177.	Karimi et al 2008
177		F	Iranian	50	44	Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 174, 175 & 176.	Karimi et al 2008
361	8	F	Omani	<1		Homozygous	Severe	Gum, nasal, oral, and vaginal bleeding, bleeding into soft tissue. Related to pa_id: 362-367.	Pinotti et al 2003
362	1	M	Omani	<1		Homozygous	Severe	Umbilical cord bleeding, post circumcision bleeding. Related to pa_id: 361, 363-367.	Pinotti et al 2003
363	6	F	Omani	<1		Homozygous	Severe	Muscle swelling, gum bleeding. Related to pa_id: 361, 362, 365, 366 & 367.	Pinotti et al 2003
364		M	Omani			Heterozygous	Not Reported	Related to pa_id: 361, 362 & 366.	Pinotti et al 2003
365		F	Omani			Heterozygous	Not Reported	Related to pa_id: 361, 362, 363, 366 & 367.	Pinotti et al 2003
366		M	Omani			Heterozygous	Not Reported	Related to pa_id: 361-365, 367.	Pinotti et al 2003
367		F	Omani			Heterozygous	Not Reported	Related to pa_id: 361, 362, 263, 365 & 366.	Pinotti et al 2003
92	25	F	Iranian	0.3		-	Severe	Menorrhagia, hematoma, epistaxis, gum bleeding.	Karimi et al 2012
99	19	F	Iranian	0.3		-	Severe	Menorrhagia, epistaxis, gum bleeding.	Karimi et al 2012

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1265C>T

p.Pro422Leu (Legacy AA No. 382)

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 *:

250736

Allele Frequency *:

0.000004

References and Comments:

Deam et al 2004
Variant disrupts FX kinetic folding pathway, altering FX activity and antigen levels.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C (IU/dl)	FX:Ag (IU/dl)	Inheritance	Severity	Comments	Reference
141	10	F	British	4		Homozygous	Severe	History of severe bleeding.	Mitchell et al 2019
351	8 w	M		<1	10	Homozygous	Not Reported	Umblicial cord bleeding, epistaxis, death by subdural and subarachnoid hemorrhage. Related to pa_id: 355 & 356.	Deam et al 2004
355		F				Heterozygous	Not Reported	Related to pa_id: 351.	Deam et al 2004
356		M				Heterozygous	Not Reported	Related to pa_id: 351.	Deam et al 2004

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1269C>G

p.His423Gln (Legacy AA No. 383)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

C>G

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Odom et al 1994
Residue 423 lies in close proximity to Ser419 of the catalytic triad, thus substitution of His with Gln is likely to affect catalytic triad interactions, potentially impacting on FX catalytic activity. Legacy cDNA numbering in paper - Leytus et al 1986 (c.1294C>G)

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1270G>T

p.Val424Phe (Legacy AA No. 384)

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 *:

250714

Allele Frequency *:

0.000004

References and Comments:

Zheng et al 2011
Residue 424 lies in close proximity to Ser419 of the catalytic triad, thus substitution of Val with Phe is likely to affect catalytic triad interactions, potentially impacting on FX catalytic activity.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Severity	Comments	Reference
372	16	M	Chinese	4	30	Homozygous	Asymptomatic	No history of bleeding. Combined FVII and FX deficiency. Related to pa_id: 373, 374 & 375.	Zheng et al 2011
373		M	Chinese	76	100	Heterozygous	Asymptomatic	No bleeding history. Related to pa_id: 372 & 375.	Zheng et al 2011
374		F	Chinese	54	69	Heterozygous	Asymptomatic	No bleeding history. Related to pa_id: 372 & 375.	Zheng et al 2011
375		F	Chinese	47	58	Heterozygous	Asymptomatic	No bleeding history .Related to pa_id: 372, 373 & 374.	Zheng et al 2011

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1271T>C

p.Val424Ala (Legacy AA No. 384)

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:

Wang et al 2015

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
368	16	F	Chinese	2.4	10.8	Homozygous	Undefined cDNA - deletion ( )	Severe	Epistaxis, menorrhagia, postoperative hemorrhage. Related to pa_id: 369, 370 & 371.	Wang et al 2015
369		F	Chinese	29		Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 368 & 370.	Wang et al 2015
370		F	Chinese	44		Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 368 & 369.	Wang et al 2015
371		M	Chinese	53		Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 368.	Wang et al 2015

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1276C>T

p.Arg426Cys (Legacy AA No. 386)

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 *:

282058

Allele Frequency *:

0.000007

References and Comments:

Vanden Hoek et al 2012
Variant impedes FX secretion and inhibits FX intrinsic activation (FX Vancouver). Legacy cDNA numbering in paper - unknown origin (c.28145C>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
376	76	M		15		15		Heterozygous	IVS1+1G>A ( )	Not Reported	Minor hematuria, epistaxis, postoperative bleeding.	Vanden Hoek et al 2012

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1303G>A

p.Gly435Ser (Legacy AA No. 395)

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:

Matsuo et al 2017; Togashi et al 2020
Variant induces a structural change in the catalytic region, impeding FX secretion and minimising activity.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
203	2	F	Japanese	<1	5	Heterozygous	c.353G>A (p.Gly118Asp)	Not Reported	Easy bruising, umbilical cord bleeding at birth, subcutaneous hematomas on waist and back. Related to pa_id: 204, 205 & 206.	Togashi et al 2020
206		F	Japanese	39	30	Heterozygous		Not Reported	Related to pa_id: 203 & 205.	Togashi et al 2020
237	10	M		<3	0.6	Heterozygous	c.730G>A (p.Gly244Arg)	Severe	Severe umbilical bleeding. Related to pa_id: 238 & 239.	Matsuo et al 2017
239		F		60		Heterozygous		Asymptomatic	No history of bleeding. Related to pa_id: 237.	Matsuo et al 2017

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1324G>A

p.Gly442Ser (Legacy AA No. 402)

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:

Perry 1997
Legacy cDNA numbering in paper - Leytus et al 1986 (c.1349G>A)

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1332G>A

p.Ala444Thr (Legacy AA No. 404)

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:

Deam et al 2001
Variant induces conformational changes, possibly disrupting the nearby disulfide bond Cys415-Cys443 and disturbing the position of the catalytic Ser419. Variant likely causes complete FX protein unfolding (FX Nottingham).

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C (IU/dl)	FX:Ag (IU/dl)	Inheritance	Severity	Comments	Reference
255	17	F	Caucasian	3	110	Homozygous	Not Reported	Menorrhagia, anemia. Related to pa_id: 256 & 257.	Deam et al 2001
256		M	Caucasian	61	92	Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 255.	Deam et al 2001
257		F	Caucasian	54		Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 255.	Deam et al 2001

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1335C>G

p.Arg445Gly (Legacy AA No. 405)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

C>G

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Deam et al 2001
Loss of positive charge/ polar side chain (Arg) and replacement with Gly changes overall electrostatic potential and increases loop flexibility, disrupting native interactions and altering local conformation. Variant may also induce changes in neighbouring loop containing catalytic Ser419, altering FX catalytic activivty. Despite disrupting catalytic activity and local conformation, FX retains ligand binding sites (FX Taunton).

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C (IU/dl)	FX:Ag (IU/dl)	Inheritance	Severity	Comments	Reference
258	25	F	Caucasian	51	98	Heterozygous	Not Reported	Menorrhagia, anemia. Related to pa_id: 259-262.	Deam et al 2001
259		F	Caucasian	58	112	Heterozygous	Not Reported	Menorrhagia. Related to pa_id: 258, 260 261 & 262.	Deam et al 2001
260		M	Caucasian	46	78	Heterozygous	Not Reported	Bleeding after dental extraction. Related to pa_id: 258, 259, 261 & 262.	Deam et al 2001
261		F	Caucasian	35	79	Heterozygous	Not Reported	Menorrhagia. Related to pa_id: 258, 259, 260 & 262.	Deam et al 2001
262		F	Caucasian	36	94	Heterozygous	Not Reported	Menorrhagia. Related to pa_id: 258-261.	Deam et al 2001

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1344G>C

p.Lys448Asn (Legacy AA No. 408)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

G>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Simioni et al 2001
Substitution of AA near catalytic site results in reduced FX activity. Yet, variant has no effect on FX synthesis, secretion or stability (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.556delC ( )	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
378	68	M	Italian	73	125	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 377, 381, 382, 383, 387, 388 & 389.	Simioni et al 2001
380	69	F	Italian	76	116	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 377, 384-389.	Simioni et al 2001
381	43	M	Italian	82	150	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 377, 378, 382, 383, 387, 388 & 389.	Simioni et al 2001
382	41	F	Italian	68	102	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 377, 378, 381, 383, 387, 388 & 389.	Simioni et al 2001
383	45	M	Italian	78	134	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 377, 378, 381, 382, 387, 388 & 389.	Simioni et al 2001
384	43	F	Italian	8	55	Heterozygous	c.556delC ( )	Asymptomatic	Asymptomatic. Related to pa_id: 377, 379, 380, 385-389.	Simioni et al 2001
385	46	F	Italian	11	75	Heterozygous	c.556delC ( )	Asymptomatic	Asymptomatic. Related to pa_id: 377, 379, 380, 384, 386-389.	Simioni et al 2001
387	12	F	Italian	16	98	Homozygous		Asymptomatic	Asymptomatic. Related to pa_id: 377-386, 388 & 389.	Simioni et al 2001
388	21	M	Italian	11	62	Heterozygous	c.556delC ( )	Asymptomatic	Asymptomatic. Related to pa_id: 377-387 & 389.	Simioni et al 2001

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1348G>A

p.Gly450Arg (Legacy AA No. 410)

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:

Mitchell et al 2019
Variant likely affects FX catalytic activity without disrupting native 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
126	58	F	Spanish		<1		77	Heterozygous	c.1048G>A (p.Glu350Lys)	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1351A>T

p.Ile451Phe (Legacy AA No. 411)

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:

Deam et al 2003; Mota et al 2010
Substitution of Ile with Phe leads to large conformational change, altering FX affinity for Na+, thereby altering FX catalytic activity (Na+ needed to convert FXa into a more enzymatically active form) (FX Leicester). Legacy cDNA numbering in paper - unknown origin (c.1354A>T)

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
125	40	F	British		<1		12	Homozygous	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
390		F	Indian		<1		8	Homozygous	Severe	Severe bleeding (menorrhagia, hematomas, hemathroses). Related to pa_id: 391, 392 & 393.	Deam et al 2003
391		F	Indian					Heterozygous	Asymptomatic	No bleeding history. Related to pa_id: 390, 392 & 393.	Deam et al 2003
392		M	Indian					Heterozygous	Asymptomatic	No bleeding history. Related to pa_id: 390, 391 & 393.	Deam et al 2003
393		M	Indian					Heterozygous	Asymptomatic	No bleeding history. Related to pa_id: 390, 391 & 392.	Deam et al 2003
9	45	F	Indian	<1		12.5		Homozygous	Severe	Menorrhagia.	Mota et al 2010

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1381T>C

p.Trp461Arg (Legacy AA No. 421)

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:

Odom et al 1994
Legacy cDNA numbering in paper - Leytus et al 1986 (c.1406T>C)

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1382G>A

p.Trp461* (Legacy AA No. 421)

Mutation Type:

Point

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Nonsense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Ferrarese et al 2019
Variant results in premature chain termination. Truncated product has significantly reduced catalytic activity.

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.752T>C (p.Leu251Pro)	Severe	Major bleeding symptoms at birth, cerebral micro-bleeds.	Ferrarese et al 2019

Structural Interpretation:

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

c.1393T>C

p.Ser465Pro (Legacy AA No. 425)

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 *:

248326

Allele Frequency *:

0.000004

References and Comments:

Liang et al 2013
Substitution with Pro increases rigidity and may cause break in FX helix, disrupting FX 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
24	34	M		1.4		2		Homozygous		Severe	Epistaxis, spontaneous hemarthrosis, gastrointestinal bleeds, easy brusing, gum bleeding.	Liang et al 2013

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1402_1403dupA

Mutation Type:

Insertion

Domain:

Serine protease

Location:

Exon 8

Mutation Effect:

Frameshift

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

248340

Allele Frequency *:

0.000004

References and Comments:

Rauch et al 2011
Frameshift mutation results in loss of native stop codon, preventing functional FX biosynthesis.

Patient Information: Show

Patient_ID	Gender	Race	FX:C(%)	Inheritance	Severity	Comments	Reference
419	M	Persian	<1	Homozygous	Not Reported	Umbilical bleeding, intracranial hemorrhage. Related to pa_id: 420-423.	Rauch et al 2011
420	M	Persian	43	Heterozygous	Not Reported	Epistaxis. Related to pa_id: 419, 421, 422 & 423.	Rauch et al 2011
421	M	Persian	66	Heterozygous	Not Reported	Related to pa_id: 419, 420 & 423.	Rauch et al 2011
422	F	Persian	62	Heterozygous	Not Reported	Menorrhagia, epistaxis, prolonged postoperative bleeding. Related to pa_id: 419 & 420.	Rauch et al 2011
423	F	Persian	55	Heterozygous	Not Reported	Menorrhagia. Related to pa_id: 419, 420 & 421.	Rauch et al 2011

Structural Interpretation:

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

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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:

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Structural Interpretation:

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR