Factor X Variant Database

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c.19C>A

p.Leu7Ile (Legacy AA No. -34)

Variant Type:

Point

Domain:

Pre-pro leader

Location:

Exon 1

Variant Effect:

Missense

Codon Change:

C>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

279678

Allele Frequency *:

0.000025

Residue Information:

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

Grantham Score : 5

PolyPhen-2 Prediction : Probably Damaging (SCORE: 0.978)

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Neutral (SCORE: -0.609)

Leu7 is in a region on the surface of the FX structure that is undefined. Hence the FX structure and its JMOL applet are not shown below.

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Factor X Variant Database