G to A transition at position 454, resulting in an amino acid substitution of arginine for glycine at position 107. This residue is predicted to reside in the cytoplasmic loop between transmembrane domains 2 and 3. (J:55860)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count