ENU induced a point mutation of C to A in exon 7 that results in the non-synonymous amino acid substitution of tryptophan for glycine at position 209 (Gly209Trp; location in the mature protein without propeptide, starting with t1, aligned to thermoplasma: Gly170Trp). (J:261081)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count