No paralogue variants have been mapped to residue 390 for KCNJ2.
KCNJ2 | NA-----N-SFCYENE----VALTSKEEDD>S<ENGVPE------STS-----TDT------- | 402 |
KCNJ1 | ---------------------ARMK--RG->Y<DN---------------------------- | 375 |
KCNJ3 | PA-ITNSKERHNSVEC----LDGLDDITTK>L<PSKLQK------ITG-----REDFPKKLLR | 418 |
KCNJ4 | PAPPPPPS-AFCYENE----LALMSQEEEE>M<EEEAAAAAAVAAGLGLEAGSKEE------- | 410 |
KCNJ5 | LP-SPPLLGGCAEAGL----DAEA-E---->-<------------------------------ | 399 |
KCNJ6 | WS-VSSKLNQHAELET----EEEEKN---->-<------------------------------ | 403 |
KCNJ8 | KSELS-H------QNS----LRKRNSMRRN>N<SMRRNN------SIR-----RN-------- | 401 |
KCNJ9 | WS-IPSRLDEKVEEEG----AGEGAG---->-<------------------------------ | 371 |
KCNJ10 | --------------------LEESL--R-->-<EQ---------------------------- | 364 |
KCNJ11 | AS----A------RGP----LRKRS----->-<------------------------------ | 372 |
KCNJ12 | SA-----N-SFCYENE----LAFLSRDEED>E<ADGDQD------GRS-----RDG------- | 403 |
KCNJ13 | ---------------------DLDIHINGQ>S<ID---------------------------- | 349 |
KCNJ14 | SSFPGSLT-AFCYENE----LALSCCQEED>E<DDETEE------GNG-----VET------- | 416 |
KCNJ15 | --------------------LEEKY--RQ->E<DQ---------------------------- | 360 |
KCNJ16 | IEKAPPVR-ESCTSDTKARRRSFSAVAIVS>S<CENP-E------ETT-----TSA------- | 393 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S390I | c.1169G>T | Putative Benign | SIFT: Polyphen: |