CRISPR/Cas9 technology generated a proline to alanine substitution at residue 92 (P92A). This corresponds to the Thr92Ala polymorphism seen in 12-36% of humans. (J:271339)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count