The mutation was identifed as a T-to-C substitution at position 191 in the gene, which is predicted to cause a valine to alanine substitution at codon 64 of the encoded protein. (J:74555)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count