In Depth Variant Analysis: c.3G>C (p.Met1Ile)

c.3G>C

p.Met1Ile (Legacy AA No. -60)

Mutation Type:

Point

Domain:

Signal Peptide

Codon Change:

ATG > ATC

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
236	1			1	Heterozygous	3	asymptomatic		Millar et al 2000

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

Grantham Score : 10

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

SIFT Prediction :Damaging (SCORE: 0.000)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Neutral (SCORE: -1.14)

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)