RT-PCR analysis of this allele revealed a missense C-to-T change at coding nucleotide 409, which results in a substitution of the Arg-137 residue with a Trp residue (p.R137W). (J:22207)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count