Search Results: 3 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.1288G>A
p.Ala430Thr (Legacy AA No. 412)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
G>A
Variant Effect:
Missense
No. of Patients Reported:
3
Phenotype:
I
Allele Count *:
20
Allele Number *:
282590
Allele Frequency *:
0.000071
Variant Comments & Reference:
Ala430 is located in an alpha helix portion. Substitution at this position with Thr is expected to disrupt the helix structure due to steric constraints from the neighbouring residues Phe433 and Tyr434. The introduction of a polar residue in place of the simple aliphatic side chain of Ala is likely to perturb the local folding of the protein. Homology modelling suggests that this substitution might impair FXI secretion by reducing the stability of the serine protease fold. de Raucourt et al 2008, Castaman et al 2008 c.1288G>T
p.Ala430Ser (Legacy AA No. 412)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
G>T
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Ala430Ser occupies a buried position within the SP domain adjacent to His431 of the active site, and may perturb either the folding or function of the SP domain. Saunders et al 2009 c.1289C>T
p.Ala430Val (Legacy AA No. 412)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
C>T
Variant Effect:
Missense
No. of Patients Reported:
2
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-