Using CRISPR/Cas9 technology, nucleotides in exon 1 were substituted to result in the amino acid substitutions of Arg 35 to Glu (R35E). Arg 35 forms crucial salt bridges with an acidic patch on Rap1b. (J:322715)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count