In Depth Variant Analysis: c.1A>G (p.Met1Val)

c.1A>G

p.Met1Val (Legacy AA No. -60)

Mutation Type:

Point

Domain:

Signal Peptide

Codon Change:

ATG > GTG

Mutation Effect:

Missense

Location:

Exon(1)

No of bases:

No. of patients reported:

Case ID	FVII:C%	FVII:Ag(%)	Inheritance	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
359	2				Heterozygous	4	mild	other mutation unknown	Giansily-Blaizot et al 2001

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Met	-	acyclic	large	hydrophobic	neutral
Mutated	Val	aliphatic	acyclic	medium	hydrophobic	neutral

Grantham Score : 21

PolyPhen-2 Prediction : possibly damaging (Probability: 0.91)

SIFT Prediction :Damaging (SCORE: 0.000)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Neutral (SCORE: -1.18)

Met1 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)