Factor X Variant Database

In-Depth Variant Analysis: c.61G>A (p.Gly21Arg)

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c.61G>A

p.Gly21Arg (Legacy AA No. -20)

Variant Type:

Point

Domain:

Pre-pro leader

Location:

Exon 1

Variant Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

246354

Allele Frequency *:

0.000049

Variant Comments & Reference:

Variant interferes with FX cleavage by signal peptidase, impairing FX secretion (FX Santo Domingo).

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.736T>C (p.Cys246Arg)	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
128	58	F	Spanish		<1		5	Homozygous		Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
13	25	M	Indian	<1				Homozygous		Severe	Hemetemesis, CNS bleed, hemarthrosis.	Mota et al 2010
130	40	F	American		<1		3	Homozygous		Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
138	14	F	German		3		8	Homozygous		Moderate	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
154			Iranian	<1		4		Homozygous		Severe	Gum bleeding, hemarthroses, hematomas. Related to pa_id: 155-159.	Karimi et al 2008
155		F	Iranian	<1		5		Homozygous		Severe	Gum bleeding, hemarthroses, hematomas. Related to pa_id: 154, 156-159.	Karimi et al 2008
156		M	Iranian	23		43		Heterozygous		Not Reported	Gum bleeding, epistaxis, post-trauma hemarthroses, hematomas, bleeding post dental extraction and circumcision. Related to pa_id: 154, 155, 157, 158 & 159.	Karimi et al 2008
157		M	Iranian	<1		2		Homozygous		Severe	Epistaxis, hematuria, hemarthroses, bleeding post dental extraction and cicumcision. Related to pa_id: 154, 155, 156, 158 & 159.	Karimi et al 2008
158		F	Iranian	46		44		Heterozygous		Not Reported	Post dental extraction bleeding. Related to pa_id: 154, 155 & 156.	Karimi et al 2008
159		M	Iranian	64		48		Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 154, 155 & 156.	Karimi et al 2008
160		F	Iranian	<1		<1		Homozygous		Severe	Gum bleeding, epistaxis, ecchymoses, menorrhagia. Related to pa_id: 161.	Karimi et al 2008
161		F	Iranian	42		36		Heterozygous		Not Reported	Asymptomatic. Related to pa_id: 160.	Karimi et al 2008
427	38	M	Spanish	1				Homozygous		Moderate	Cardiac tamponade. Dyspnea on exertion and orthopnea. Epistaxis. Prolonged bleeding following appendectomy.	Othman et al 2019
67				2		3		Homozygous		Not Reported	Significant hemorrhagic symptoms. Related to pa_id: 68 & 69.	Millar et al 2000
68				1				Homozygous		Not Reported	Related to pa_id: 67 & 69.	Millar et al 2000
69				1				Homozygous		Not Reported	Related to pa_id: 67 & 68.	Millar et al 2000
72	16	F	Dominican	<1		5		Homozygous		Severe	Heavy menstrual bleeding. Related to pa_id: 73 & 74.	Watzke et al 1991
73		M	Dominican	38		50		Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 72.	Watzke et al 1991
74		F	Dominican	29		50		Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 72.	Watzke et al 1991
90	23	F	Iranian	0.7				-		Severe	Menorrhagia, hemarthrosis, hematoma.	Karimi et al 2012

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Gly	aliphatic	acyclic	small	surface	hydrophobic	neutral
Mutated	Arg	basic	acyclic	large	surface	hydrophilic	postive

Substitution Analysis:

Grantham Score : 125

PolyPhen-2 Prediction : Probably Damaging (SCORE: 0.982)

SIFT Prediction : Tolerated (SCORE: 0.12)

PROVEAN Prediction : Neutral (SCORE: -1.252)

Structural Implications:

Gly21 is in a region on the surface of the FX structure that is undefined. Hence the FX structure and its JMOL applet are not shown below.

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