A deletion of a guanine residue introduced a frameshift mutation affecting amino acids downstream of 313. Translation was prematurely stopped at codon 435. The deleted nucleotide was reported as nucleotide 959 in J:61488, 970 in J:74211, and nucleotide 937 in J:83731. (J:61488, J:74211, J:83731)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count