Factor XI Gene (F11)

Variant Database

FXI (2F83) animation with variants
FXI (2F83) animation

  Search Results: 1 unique variant retrieved.



Terms with a '*' next to them are explained on the Help Page .

  c.992C>T
p.Thr331Ile (Legacy AA No. 313)
Variant Type: 
Point
Domain: 
Apple 4
Codon Change: 
C>T
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

Variant Comments & Reference:

Interestingly, this mutation is similar to the Thr51Ile conversion but occurs in Ap4. This Thr residue, Thr331, which is laid in the extended strand positioned after alpha-helix, is conserved in positions 60, 150, 240 and 331 of Apple 1, 2, 3 and 4 domains, respectively. The major role of Apple 4 is to mediate dimer formation of two identical polypeptide chains and the Thr331Ile change may distort the conformation of the Apple 4 domain and interfere with its function. Fard-Esfahani et al 2008

Patient Information: Show


Structural Interpretation:

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Factor XI Variant Database
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