Search Results: 1 unique variant retrieved.



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  c.959T>C
p.Leu320Pro (Legacy AA No. 302)
Variant Type: 
Point
Domain: 
Apple 4
Codon Change: 
T>C
Variant Effect: 
Missense
No. of Patients Reported: 
0
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

Variant Comments & Reference:

Amount of mutant protein secreted from cells in vitro is reduced. Leu320 occurs adjacent to Cys321, which forms a disulfide bond with Cys327. Structural predictions indicate that the substitution of Pro for Leu320 causes the helical conformation at Cys317, Gln318, and Lys319 of the normal protein to be changed to turn and coil conformations. These changes in protein conformation might prevent the formation of the Cys321- Cys327 disulfide bond, altering the structure of the fourth apple domain. Pugh et al 1995

Patient Information: Show


Structural Interpretation:

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Factor XI Variant Database