ENU-induced T to C transition at position 640 of the genomic DNA sequence (Genbank genomic region NC_000085). The mutation results in substitution of the start methionine of isoform 1 with threonine. (J:255292)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count