Factor X Variant Database

In-Depth Variant Analysis: c.535C>T (p.Arg179Cys)

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c.535C>T

p.Arg179Cys (Legacy AA No. 139)

Variant Type:

Point

Domain:

Linker

Location:

Exon 6

Variant Effect:

Missense

Codon Change:

C>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

31384

Allele Frequency *:

0.000032

Variant Comments & Reference:

Variant prevents FX proteolytic cleavage (as protease requires Arg at residue 179 for recognition), preventing standard FX processing (FX Wenatchee I). Legacy cDNA numbering in paper - unknown origin (c.13984C>T)

Patient Information: Show

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Arg	basic	acyclic	large	surface	hydrophilic	postive
Mutated	Cys	-	acyclic	medium	buried	hydrophilic	neutral

Substitution Analysis:

Grantham Score : 180

PolyPhen-2 Prediction : Probably Damaging (SCORE: 1.000)

SIFT Prediction : Probably Damaging (SCORE: 0.01)

PROVEAN Prediction : Deleterious (SCORE: -3.658)

Structural Implications:

Arg179 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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