A spontaneous C-to-T transition at chromosome 2 position 91,492,644 bp (GRCm38) changes amino acid 1158 from arginine to tryptophan (p.R1158W) in the third beta-propeller domain. (J:222308, J:224655)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count