Factor XI Variant Database

In Depth Variant Analysis: c.209C>T (p.Pro70Leu)

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c.209C>T

p.Pro70Leu (Legacy AA No. 52)

Variant Type:

Point

Domain:

Apple 1

Codon Change:

C>T

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251440

Allele Frequency *:

0.000004

Variant Comments & Reference:

Unpublished Data From Coagulation factor XI: a database of mutations and polymorphism associated with factor XI deficiency http://www.wienkav.at/kav/factorxi/Faktor_XI_Suche.asp

Patient Information: Show

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Pro	-	cyclic	medium	surface	hydrophobic	neutral
Mutated	Leu	aliphatic	acyclic	large	buried	hydrophobic	neutral

Substitution Analysis:

Grantham Score : 98

PolyPhen-2 Prediction : Possibly Damaging (SCORE: 0.886)

SIFT Prediction : Probably Damaging (SCORE: 0.02)

PROVEAN Prediction : Neutral (SCORE: -1.819)

Structural Implications:

Pro70 is an exposed residue (surface accessibility value = 4 ).

Pro70 is in a random coil area of the FXI structure.

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

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