Factor X Variant Database

In-Depth Variant Analysis: c.353G>A (p.Gly118Asp)

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c.353G>A

p.Gly118Asp (Legacy AA No. 78)

Variant Type:

Point

Domain:

EGF-1

Location:

Exon 4

Variant Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Variant disrupts folding of EGF-1 domain, disrupting overall FX protein structure.

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.1303G>A (p.Gly435Ser)	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
204		M	Japanese	50	52	Heterozygous		Not Reported	Related to pa_id: 203 & 205.	Togashi et al 2020
205	5	F	Japanese	39	36	Heterozygous		Not Reported	Related to pa_id: 203, 204 & 206.	Togashi et al 2020
80	55	M	Iranian	<1	8	Homozygous		Severe	Bleeding after circumcision, hemarthrosis, hematomas, hematuria, mucosal bleeding.	Peyvandi et al 2002

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: -6.668)

Structural Implications:

Gly118 is an exposed residue (surface accessibility value = 3 ).

Gly118 is in a region of secondary structure within the FX domains.

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

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