A T-to-C transversion causes an isoleucine to threonine amino acid change at residue 67. This change is not seen in the parent strain or in any of five other inbred strains tested. (J:119733)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count