Sequencing of partial gp87 cDNA from homozygous mutant melanocytes showed this mutation comprises a G to A substitution at base 1808, resulting in a premature stop codon and truncation of the protein in the C-terminal cystolic domain. (J:22779, J:58687)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count