CRISPR/Cas9 technology generated an arginine to tryptophan substitution at amino acid 125 (p.R125W). This variant is orthologous to p.R131W found in a systemic lupus erythematosus patient. (J:343419)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count