Factor X Variant Database

In-Depth Variant Analysis: c.1160G>A (p.Arg387His)

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c.1160G>A

p.Arg387His (Legacy AA No. 347)

Variant Type:

Point

Domain:

Serine protease

Location:

Exon 8

Variant Effect:

Missense

Codon Change:

G>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Legacy cDNA numbering in Wang 2004 paper - Leytus et al 1986 (c.1185G>A)

Patient Information: Show

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Arg	basic	acyclic	large	surface	hydrophilic	postive
Mutated	His	aromatic/basic	cyclic	large	surface	hydrophilic	postive

Substitution Analysis:

Grantham Score : 29

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

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -4.032)

Structural Implications:

Arg387 is a buried residue (surface accessibility value = 1 ).

Arg387 is in a region of secondary structure within the FX domains.

The DSSP assignment for this residue is ... H.

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