Search Results: 2 unique variants retrieved
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c.535C>A
p.Arg179Ser (Legacy AA No. 139)
Variant Type:
Point
Domain:
Linker
Location:
Exon 6
Variant Effect:
Missense
Codon Change:
C>A
No. of Patients Reported:
2
Phenotype:
II
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Iijima et al 2001Variant prevents FX proteolytic cleavage (as protease requires Arg at residue 179 for recognition), preventing standard FX processing. In addition, variant disrupts FX interactions with FVa and FVIIIa (FX Kurayoshi). Legacy cDNA numbering in paper - Leytus et al 1986 (c.560C>A)
c.535C>T
p.Arg179Cys (Legacy AA No. 139)
Variant Type:
Point
Domain:
Linker
Location:
Exon 6
Variant Effect:
Missense
Codon Change:
C>T
No. of Patients Reported:
0
Phenotype:
II
Allele Count *:
1
Allele Number *:
31384
Allele Frequency *:
0.000032
References and Comments:
Kim et al 1995Variant prevents FX proteolytic cleavage (as protease requires Arg at residue 179 for recognition), preventing standard FX processing (FX Wenatchee I). Legacy cDNA numbering in paper - unknown origin (c.13984C>T)