A C to T transition (C1223T) causes a serine (aromatic) to phenylalanine (polar) amino acid substitution at position 408. (J:68708, J:163655)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count