Search Results: 3 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.166T>C
p.Cys56Arg (Legacy AA No. 38)
Variant Type: 
Point
Domain: 
Apple 1
Codon Change: 
T>C
Variant Effect: 
Missense
No. of Patients Reported: 
36
Phenotype: 
I
Allele Count *: 
3
Allele Number *: 
251464
Allele Frequency *: 
0.000012
Variant Comments & Reference:
High prevalence in French Basque population. Mutant protein synthesized in BHK transfected cells but not secreted. Zivelin et al 2002, Esteban et al 2017 c.168T>G
p.Cys56Trp (Legacy AA No. 38)
Variant Type: 
Point
Domain: 
Apple 1
Codon Change: 
T>G
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Cys56 is a buried residue located in a random coil of Ap1 and is involved in the Cys50-Cys56 disulphide bridge. This disulphide bridge represents one of three conserved bridges that are responsible for the correct folding of the Ap domains. Therefore, Cys56Trp mutation is likely to significantly impair folding of the Ap1 domain. Expression studies reveal a secretion defect. Castaman et al 2005, Spena et al 2009 c.168T>A
p.Cys56* (Legacy AA No. 38)
Variant Type: 
Point
Domain: 
Apple 1
Codon Change: 
T>A
Variant Effect: 
Nonsense
No. of Patients Reported: 
0
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-