Factor V Variant Database

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c.2127G>A

p.Met709Ile (Legacy AA No. 681)

Variant Type:

Point

Domain:

d5a2

Location:

Exon 13

Variant Effect:

Missense

Codon Change:

2127G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
288	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 161460

Residue Information:

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

Grantham Score : 10

PolyPhen-2 Prediction : possibly damaging (SCORE: 0.868)

SIFT Prediction : Tolerated (SCORE: 1.00)

PROVEAN Prediction : Neutral (SCORE: -0.686)

Met709 is in a region on the surface of the FV structure that is undefined. Hence the FV structure and its JMOL applet are not shown below.

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Factor X Variant Database