Factor XI Variant Database

In Depth Variant Analysis: c.127G>A (p.Ala43Thr)

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c.127G>A

p.Ala43Thr (Legacy AA No. 25)

Variant Type:

Point

Domain:

Apple 1

Codon Change:

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251460

Allele Frequency *:

0.000036

Variant Comments & Reference:

Heterodimer trapping. Duga & Salomon 2013

Patient Information: Show

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Ala	aliphatic	acyclic	small	buried	hydrophobic	neutral
Mutated	Thr	-	acyclic	medium	surface	hydrophilic	neutral

Substitution Analysis:

Grantham Score : 58

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

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Neutral (SCORE: -1.414)

Structural Implications:

Ala43 is a buried residue (surface accessibility value = 0 ).

Ala43 is in a region of secondary structure within the FXI domains.

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

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