CRISPR/Cas9 technology introduced a TT to GC mutation in exon 17 resulting in a phenylalanine to alanine substitution at amino acid 2872 (F2872A). This mutation is within the Rhot (Miro)-binding region and is predicted to abolish Rhot-binding. (J:273098)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count