大多数小鼠品系,如BALB/c、C57BL/6和129S,都携带有SNP rs13482876的G变异,该变异编码398位的谷氨酸。C3H/HeJ、A/J、CBA/J、DBA/2J和PWK/PhJ小鼠则表现出G变C的转换,导致398位的谷氨酸被精氨酸取代(p.E398Q)。这种变异在人类的parkin中等同于E399Q的变异(来源:J:160271)。
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count