In Depth Variant Analysis: c.64G>A (p.Gly22Ser)

c.64G>A

p.Gly22Ser (Legacy AA No. -39)

Mutation Type:

Point

Domain:

Propeptide

Codon Change:

GGC > AGC

Mutation Effect:

Missense

Location:

Exon(1)

No of bases:

No. of patients reported:

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Inheritance	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
215		8			Homozygous	6	unknown	Wulff et al 2000
769			6	UK	Heterozygous	1	Asymptomatic	Kwon et al 2011

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Gly	aliphatic	acyclic	small	hydrophobic	neutral
Mutated	Ser	-	acyclic	small	hydrophilic	neutral

Substitution Analysis :

Grantham Score : 80

PolyPhen-2 Prediction : probably damaging (Probability: 0.96)

SIFT Prediction :Tolerated (SCORE: 0.070)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Neutral (SCORE: 0.20)

Structural Implications :

Gly22 is in a region of FVII crystal structure that is undefined. Hence the FVII crystal structure model and its JSMOL applet are not shown below.

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Factor VII Variant Database

Factor VII Gene (F7)

Variant Database

In Depth Variant Analysis: c.64G>A (p.Gly22Ser)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :