This allele represents seven point mutations that are found in the PWD and PWK strains: chrX:g.67920137C>T (novel SNP; changes codon 372 from glycine to glutamic acid (p.G372E)); 67920143T>G (minor variant of SNP rs29048003; changes codon 370 from glutamic acid to alanine (p.E370A)); 67920312G>T (minor variant of SNP rs29048002; changes codon 314 from glutamine to lysine (p.Q314K)); 67920431T>A (minor variant of SNP rs29048000; changes codon 274 from lysine to methionine (p.K274M)); 67920805T>A (minor variant of SNP rs29047999; changes codon 149 from lysine to asparagine (p.K149N)); 67920818C>T (novel SNP; changes codon 145 from cysteine to tyrosine (p.C145Y)); 67920822T>G (minor variant of SNP rs31699485; changes codon 144 from lysine to glutamine (p.K144Q)) (GRCm38 coordinates). (J:292550)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count