This A to G point mutation (c.2753A>G) changes amino acid 918 from tyrosine to cysteine, replicating the Tyr920Cys disease-causing mutation found in human. (J:337488)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count