Factor X Variant Database

In-Depth Variant Analysis: c.1269C>G (p.His423Gln)

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c.1269C>G

p.His423Gln (Legacy AA No. 383)

Variant Type:

Point

Domain:

Serine protease

Location:

Exon 8

Variant Effect:

Missense

Codon Change:

C>G

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Residue 423 lies in close proximity to Ser419 of the catalytic triad, thus substitution of His with Gln is likely to affect catalytic triad interactions, potentially impacting on FX catalytic activity. Legacy cDNA numbering in paper - Leytus et al 1986 (c.1294C>G)

Patient Information: Show

Residue Information:

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

Substitution Analysis:

Grantham Score : 24

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

SIFT Prediction : Probably Damaging (SCORE: 0.01)

PROVEAN Prediction : Deleterious (SCORE: -7.695)

Structural Implications:

His423 is a buried residue (surface accessibility value = 0 ).

His423 is in a region of secondary structure within the FX domains.

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

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