Factor VII Variant Database

c.1074G>A

p.Met358Ile (Legacy AA No. 298)

Mutation Type:

Point

Domain:

Serine Protease

Codon Change:

ATG > ATA

Mutation Effect:

Missense

Location:

Exon(9)

No of bases:

No. of patients reported:

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
331		6	85	Homozygous	3	mild		Bernardi et al 1994a
418	7		136	Homozygous	-	Asymptomatic		Borensztajn et al 2005
384	5		76	Homozygous	5	mild		Giansily-Blaizot et al 2001
124		51		Heterozygous	-	unknown		Bernardi et al 1994a
125		61		Heterozygous	-	unknown		Bernardi et al 1994a
122		60		Heterozygous	-	unknown		Bernardi et al 1994a
330		46		Heterozygous	-	unknown		Bernardi et al 1994a
231		36		Heterozygous	-	unknown		Bernardi et al 1994a
123		46		Heterozygous	-	unknown		Bernardi et al 1994a
258	1		9	Heterozygous	6	asymptomatic		Giansily-Blaizot et al 2001
367	3		37	Heterozygous	5	asymptomatic	other mutation unknown	Giansily-Blaizot et al 2001
277	5			Heterozygous	5	mild		Giansily-Blaizot et al 2001
62		50		Heterozygous	2	mild		Millar et al 2000
120		25		Heterozygous	2	unknown		Millar et al 2000
121		41		Heterozygous	6	asymptomatic		Wulff et al 2000

Residue Information :

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

Substitution Analysis :

Grantham Score : 10

PolyPhen-2 Prediction : probably damaging (Probability: 0.99)

SIFT Prediction :Damaging (SCORE: 0.011)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Deleterious (SCORE: -2.91)

Structural Implications :

Met358 is shown below as a red sphere.

Met358 is an exposed residue(the surface accessibility from the FVII structure is 2).

Met358is in a region of secondary structure within the FVII domains (the DSSP assignment from the modelled FVII domains is E).

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Factor VII Gene (F7)

Variant Database

In Depth Variant Analysis: c.1074G>A (p.Met358Ile)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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