CRISPR/Cas9 technology generated an arginine to tryptophan substitution at amino acid 171 (R171W). The R171W mutation is found in the majority of Immunodeficiency 50 (X-linked moesin associated immunodeficiency) patients. (J:320965)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count