An A-to-G transition at nucleotide position 2403 of the gene (Genbank Accession NM_009134) results in replacement of threonine by alanine at amino acid position 790 of the Nav1.8 protein. This mutation produces a dominant hypermorph. (J:180381)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count