Factor XI Variant Database

In Depth Variant Analysis: c.152C>T (p.Thr51Ile)

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c.152C>T

p.Thr51Ile (Legacy AA No. 33)

Variant Type:

Point

Domain:

Apple 1

Codon Change:

C>T

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Thr51Pro and Thr51Ile. These changes convert hydrophilic and moderately sized threonine to hydrophobic, large proline and isoleucine, respectively. Thr51 lies in the first a-helix, in a buried region of Apple 1 domain and just next to a cysteine residue which forms the disulphide bond. On the other hand, the threonine residue is conserved in positions 51, 141, 231 and 322 of four Apple domains, in the same position relative to the a-helix of each domain. Therefore, it seems that this amino acid is essential for proper function of the protein and its alteration is not conservative. Fard-Esfahani et al 2008

Patient Information: Show

Residue Information:

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

Substitution Analysis:

Grantham Score : 89

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

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -3.018)

Structural Implications:

Thr51 is a buried residue (surface accessibility value = 0 ).

Thr51 is in a region of secondary structure within the FXI domains.

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

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