Factor X Variant Database

In-Depth Variant Analysis: Undefined cDNA (W348L) (p.Trp348Leu)

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Undefined cDNA (W348L)

p.Trp348Leu (Legacy AA No. 308)

Variant Type:

Point

Domain:

Serine protease

Location:

Exon 8

Variant Effect:

Missense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Patient Information: Show

Residue Information:

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

Substitution Analysis:

Grantham Score : 61

PolyPhen-2 Prediction : Probably Damaging (SCORE: 0.999)

SIFT Prediction : Tolerated (SCORE: 0.07)

PROVEAN Prediction : Deleterious (SCORE: -4.315)

Structural Implications:

Trp348 is a buried residue (surface accessibility value = 0 ).

Trp348 is in a region of secondary structure within the FX domains.

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

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