Factor X Variant Database

In-Depth Variant Analysis: c.214G>C (p.Glu72Gln)

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c.214G>C

p.Glu72Gln (Legacy AA No. 32)

Variant Type:

Point

Domain:

Gla domain

Location:

Exon 2

Variant Effect:

Missense

Codon Change:

G>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Variant prevents completion of standard FX carboxylation, disrupting FX processing, potentially destabilizing the FX mRNA or protein product(FX Tokyo).

Patient Information: Show

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Glu	acidic	acyclic	large	surface	hydrophilic	negative
Mutated	Gln	-	acyclic	large	surface	hydrophilic	neutral

Substitution Analysis:

Grantham Score : 29

PolyPhen-2 Prediction : Probably Damaging (SCORE: 0.991)

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Neutral (SCORE: -2.310)

Structural Implications:

Glu72 is an exposed residue (surface accessibility value = 6 ).

Glu72 is in a random coil area of the FX structure.

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

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