Arginine codon 685 (CGA) in exon 15 was changed to alanine (GCC) (p.R685A) using a crRNA (targeting AAGGTTTAGGGACACTTACTCGG) and an ssODN template with CRIPSR/Cas9 technology. The mutation abolishes PTP1B binding and, consequently, NTRK1 dephosphorylation. (J:338830)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count