Factor X Variant Database

In-Depth Variant Analysis: c.152G>T (p.Gly51Val)

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c.152G>T

p.Gly51Val (Legacy AA No. 11)

Variant Type:

Point

Domain:

Gla domain

Location:

Exon 2

Variant Effect:

Missense

Codon Change:

G>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Variant affects FX activation by FVIIa/TF and FIXa/FVIIIa. Legacy cDNA numbering in paper - unknown origin (c.209G>T)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	FX:C(%)	FX:Ag(%)	Inheritance	Severity	Comments	Reference
104	10	F	<1	75	Homozygous	Severe	Umbilical cord bleeding, possible undiagnosed cerebral hemorrhage (paraplegia), epistaxis, bleeding upon tooth loss. Related to pa_id: 105 & 106.	Chafa et al 2009
105		F	66	85	Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 104.	Chafa et al 2009
106		M	57		Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 104.	Chafa et al 2009

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Gly	aliphatic	acyclic	small	surface	hydrophobic	neutral
Mutated	Val	aliphatic	acyclic	medium	buried	hydrophobic	neutral

Substitution Analysis:

Grantham Score : 109

PolyPhen-2 Prediction : Probably Damaging (SCORE: 0.999)

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -7.452)

Structural Implications:

Gly51 is an exposed residue (surface accessibility value = 2 ).

Gly51 is in a region of secondary structure within the FX domains.

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

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