This allele comprises a G-to-A substitution at coding nucleotide 2995 in exon 15 creating a missense mutation that alters codon 999 from an alanine to a threonine in a conserved region of the transduction domain of the encoded protein. (J:39098)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count