这个等位基因包含了在PWD和PWK两个菌株中发现的七处突变:chrX:67920137C>T(新SNP,替换为甘氨酸为谷氨酸,p.G372E);67920143T>G(rs29048003的次要变异,改变370位的谷氨酸为Alanine,p.E370A);67920312G>T(rs29048002的次要变异,314位的谷氨酰胺变为Lysine,p.Q314K);67920431T>A(rs29048000的次要变异,274位的Lysine变为 Methionine,p.K274M);67920805T>A(rs29047999的次要变异,149位的Lysine变为Asparagine,p.K149N);67920818C>T(新SNP,145位的Cysteine变为Tyrosine,p.C145Y);67920822T>G(rs31699485的次要变异,144位的Lysine变为Glutamine,p.K144Q)(GRCm38坐标,参考文献J:292550)。
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count