No paralogue variants have been mapped to residue 120 for KCNJ2.
KCNJ2 | HGDLDAS--------------------KEG>K<ACVSEVNSFTAAFLFSIETQTTIGYGFRCV | 150 |
KCNJ1 | HKDLPEF--HP---------------SANH>T<PCVENINGLTSAFLFSLETQVTIGYGFRCV | 149 |
KCNJ3 | RGDLNKA--HV----------------GNY>T<PCVANVYNFPSAFLFFIETEATIGYGYRYI | 151 |
KCNJ4 | HGDLEAS--PGVPAAGGPAAGGGGAAPVAP>K<PCIMHVNGFLGAFLFSVETQTTIGYGFRCV | 142 |
KCNJ5 | RGDLDHV--GD----------------QEW>I<PCVENLSGFVSAFLFSIETETTIGYGFRVI | 157 |
KCNJ6 | RGDMDHI--ED----------------PSW>T<PCVTNLNGFVSAFLFSIETETTIGYGYRVI | 160 |
KCNJ8 | HGDIYAY--MEKS--G------MEKSGLES>T<VCVTNVRSFTSAFLFSIEVQVTIGFGGRMM | 148 |
KCNJ9 | RGDLEHL--ED----------------TAW>T<PCVNNLNGFVAAFLFSIETETTIGYGHRVI | 128 |
KCNJ10 | HGDLLEL--DP---------------PANH>T<PCVVQVHTLTGAFLFSLESQTTIGYGFRYI | 136 |
KCNJ11 | HGDLAP----S-E------------GTA-->E<PCVTSIHSFSSAFLFSIEVQVTIGFGGRMV | 138 |
KCNJ12 | HGDLEPA--EG----------------RGR>T<PCVMQVHGFMAAFLFSIETQTTIGYGLRCV | 151 |
KCNJ13 | NGDLELDHDAP---------------PENH>T<ICVKYITSFTAAFSFSLETQLTIGYGTMFP | 127 |
KCNJ14 | HGDLAAP--P------------------PP>A<PCFSHVASFLAAFLFALETQTSIGYGVRSV | 155 |
KCNJ15 | HGDLEPG--EP---------------ISNH>T<PCIMKVDSLTGAFLFSLESQTTIGYGVRSI | 135 |
KCNJ16 | HGDLLND--P------------------DI>T<PCVDNVHSFTGAFLFSLETQTTIGYGYRCV | 139 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K120T | c.359A>C | Putative Benign | rs375646186 | SIFT: tolerated Polyphen: benign |