In Depth Variant Analysis: c.635G>A (p.Arg212Gln)

c.635G>A

p.Arg212Gln (Legacy AA No. 152)

Mutation Type:

Point

Domain:

Activation Peptide

Codon Change:

CGA > CAA

Mutation Effect:

Missense

Location:

Exon(7)

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
204		<1		<1	Homozygous	4	severe		Carew et al 1998
89			<1	100	Homozygous	1	severe		Chaing et al 1994
91		<1		78	Homozygous	-	mild		Peyvandi et al 2000b
6			66	100	Heterozygous	1	asymptomatic	Both Variants in cis	Chaing et al 1994
225		<1			Heterozygous	7	severe		Giansily-Blaizot et al 2001
610	UK			UK	Heterozygous	-	Asymptomatic		Herrmann et al 2009
18	41				Heterozygous	6	unknown		Wulff et al 2000

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Arg	basic	acyclic	large	hydrophilic	postive
Mutated	Gln	-	acyclic	large	hydrophilic	neutral

Substitution Analysis :

Grantham Score : 43

PolyPhen-2 Prediction : probably damaging (Probability: 1)

SIFT Prediction :Damaging (SCORE: 0.001)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Deleterious (SCORE: -3.01)

Structural Implications :

Arg212 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.635G>A (p.Arg212Gln)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :