Molecular analysis reveals a G-to-A transition in codon 153, resulting in the substitution of a highly conserved aspartic acid with asparagine (p.D153N). The substitution occurs near the cytoplasmic face of transmembrane domain 4, adjacent to the loop containing the sucrose transporter signature sequence. (J:72440)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count