The transgene carries several variants predicted to change amino acid coding with a proline-to-serine at codon 301 (P301S) and four serine-to-glutamate substitutions at positions 262, 293, 324, and 356 in splice isoform #2 (NM_005910.5/NP_005901.2). (J:94077)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count