Factor V Variant Database

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c.2105C>T

p.Thr702Ile (Legacy AA No. 674)

Variant Type:

Point

Domain:

d5a2

Location:

Exon 13

Variant Effect:

Missense

Codon Change:

2105C>T

No. of Patients Reported:

Phenotype:

Allele Count *:

982

Allele Number *:

282324

Allele Frequency *:

0.003478

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
287	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 783954

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Thr	-	acyclic	medium	surface	hydrophilic	neutral
Mutated	Ile	aliphatic	acyclic	large	buried	hydrophobic	neutral

Grantham Score : 89

PolyPhen-2 Prediction : benign (SCORE: 0.210)

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -3.311)

Thr702 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