CRISPR/Cas9 genome editing technology was used to insert an FAH epitope tag after the nucleotide position 696 of the coding sequence. This corresponds to the position between amino acids Val232 and Glu233 of the encoded protein, with the extracellular FAH tag inserted just after the predicted cleavage site of the propolypeptide domain. (J:300752)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count