Cytosine at position 1473 results in Proline at amino acid residue 447. This variant has been identified in 129X1/SvJ mice and C57BL/6 from Jackson Laboratory, Charles River, Harlan and Hilltop. Proline is found at this position in the proteins of human and rat as well. (J:94745)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count