No paralogue variants have been mapped to residue 389 for KCNJ2.
KCNJ2 | SNA-----N-SFCYENE----VALTSKEED>D<SENGVPE------STS-----TDT------ | 402 |
KCNJ1 | ----------------------ARMK--RG>-<YDN--------------------------- | 375 |
KCNJ3 | APA-ITNSKERHNSVEC----LDGLDDITT>K<LPSKLQK------ITG-----REDFPKKLL | 417 |
KCNJ4 | LPAPPPPPS-AFCYENE----LALMSQEEE>E<MEEEAAAAAAVAAGLGLEAGSKEE------ | 410 |
KCNJ5 | YLP-SPPLLGGCAEAGL----DAEA-E--->-<------------------------------ | 399 |
KCNJ6 | SWS-VSSKLNQHAELET----EEEEKN--->-<------------------------------ | 403 |
KCNJ8 | QKSELS-H------QNS----LRKRNSMRR>N<NSMRRNN------SIR-----RN------- | 401 |
KCNJ9 | YWS-IPSRLDEKVEEEG----AGEGAG--->-<------------------------------ | 371 |
KCNJ10 | ---------------------LEESL--R->-<-EQ--------------------------- | 364 |
KCNJ11 | LAS----A------RGP----LRKRS---->-<------------------------------ | 372 |
KCNJ12 | PSA-----N-SFCYENE----LAFLSRDEE>D<EADGDQD------GRS-----RDG------ | 403 |
KCNJ13 | ----------------------DLDIHING>Q<SID--------------------------- | 349 |
KCNJ14 | KSSFPGSLT-AFCYENE----LALSCCQEE>D<EDDETEE------GNG-----VET------ | 416 |
KCNJ15 | ---------------------LEEKY--RQ>-<EDQ--------------------------- | 360 |
KCNJ16 | HIEKAPPVR-ESCTSDTKARRRSFSAVAIV>S<SCENP-E------ETT-----TSA------ | 393 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D389N | c.1165G>A | Putative Benign | rs140053197 | SIFT: tolerated Polyphen: benign | |
p.D389G | c.1166A>G | Putative Benign | SIFT: Polyphen: |