Factor X Variant Database

In-Depth Variant Analysis: c.1258G>A (p.Gly420Arg)

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c.1258G>A

p.Gly420Arg (Legacy AA No. 380)

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 *:

250784

Allele Frequency *:

0.000064

Variant Comments & Reference:

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

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: 1.000)

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -7.695)

Structural Implications:

Gly420 is a buried residue (surface accessibility value = 0 ).

Gly420 is in a random coil area of the FX structure.

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

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