Factor X Variant Database

In-Depth Variant Analysis: c.1262G>A (p.Gly421Asp)

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c.1262G>A

p.Gly421Asp (Legacy AA No. 381)

Variant Type:

Point

Domain:

Serine protease

Location:

Exon 8

Variant Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

282144

Allele Frequency *:

0.000018

Variant Comments & Reference:

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

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Gly	aliphatic	acyclic	small	surface	hydrophobic	neutral
Mutated	Asp	acidic	acyclic	medium	surface	hydrophilic	negative

Substitution Analysis:

Grantham Score : 94

PolyPhen-2 Prediction : Probably Damaging (SCORE: 1.000)

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -6.733)

Structural Implications:

Gly421 is a buried residue (surface accessibility value = 0 ).

Gly421 is in a random coil area of the FX structure.

The DSSP assignment for this residue is ... C.

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