Nucleotide substitutions (GACCGA to GCGCGC) to introduce the amino acid substitution of alanine for aspartic acid at position 257 (D257A) and create a BssHII site for genotyping. (J:199416)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count