The mutation in the fourth exon corresponds to an A to G transition at nucleotide position 644 of the transcript that is predicted to replace tyrosine with cysteine at amino acid position 158 of the protein (Y158C). (J:158794)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count