A T-to-C polymorphism at coding nucleotide 1412 (SNP rs13483926) changes codon 471 from leucine to proline (p.L471P). This T variant (with the leucine codon) is the minor allele found in the C57, AKR/J, DBA, NOD/LTJ, and some other strains. (J:38977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count