Factor XI Variant Database

In Depth Variant Analysis: c.100G>C (p.Asp34His)

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c.100G>C

p.Asp34His (Legacy AA No. 16)

Variant Type:

Point

Domain:

Apple 1

Codon Change:

G>C

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251446

Allele Frequency *:

0.000008

Variant Comments & Reference:

Amount of mutant protein secreted from cells in vitro is reduced. The replacement of Asp 34 in the Ap1 domain of factor XI is a radical substitution, because the wild-type Asp side chain is small and negatively charged at physiologic pH, whereas the His group is bulky and hydrophobic with neutral charge - the alteration of charge and shape and the resultant conformational change of this region of the molecule might interfere with chain folding. Pugh et al 1995

Patient Information: Show

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Asp	acidic	acyclic	medium	surface	hydrophilic	negative
Mutated	His	aromatic/basic	cyclic	large	surface	hydrophilic	postive

Substitution Analysis:

Grantham Score : 81

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

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -2.545)

Structural Implications:

Asp34 is an exposed residue (surface accessibility value = 4 ).

Asp34 is in a region of secondary structure within the FXI domains.

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

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