A spontaneous G-to-T mutation at coding nucleotide 745 (accession number NM_009575) results in a premature stop codon at glutamic acid codon 249 (p.E249*). (J:196367)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count