An A-to-G transition at nucleotide 743 resulted in an asparagine to serine substitution at amino acid 248. The mutation is in the putative DNA-binding domain and is conserved among other gene family members. (J:22020)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count