这个等位基因包含在PWD和PWK两个菌株中发现的两种点突变:chrX:66655874A>G(SNP rs29051074的次要变异,编码第657位由asn变为ser(p.N657S)),以及66656111A>G,导致第736位由tyr变为cys(p.Y736C)(GRCm38坐标)。(来源:J:292550)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count