C3H/HeJ, A/J, CBA/J, DBA/2J and PWK/PhJ mice exhibit a G-to-C transversion (SNP rs13482876) that results in an amino acid substitution of glutamic acid with glutamine at position 398 (p.E398Q). This mutation is synonymous with the E399Q mutation observed in human parkin. Most mouse strains, including BALB/c, C57BL/6, and 129S, have the G variant coding for glutamic acid. (J:160271)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count