The molecular lesion is a T-to-G missense mutation (269T-G) in codon 90 in exon 3. This is predicted to alter amino acid 90 from a leucine to an arginine (L90R) in the encoded protein. (J:237905)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count