Nucleotide substitution(s) results in the amino acid substitution of glutamine for glutamic acid at position 705 (E705Q) that abolishes SUMO conjugation. (J:174863)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count