No paralogue variants have been mapped to residue 371 for KCNJ2.
KCNJ2 | EVPNTPL----CSARDLAEK----KYILSN>A<-----N-SFCYENE----VALTSKEEDDSE | 391 |
KCNJ1 | EVET-PH----CAMCLYNEKDVR------->-<-------------------ARMK--RG-YD | 374 |
KCNJ3 | EVP-TPP----YSVKEQEEMLLMSSPLIAP>A<-ITNSKERHNSVEC----LDGLDDITTKLP | 400 |
KCNJ4 | EVAGTPC----CSARELQES----KITVLP>A<PPPPPS-AFCYENE----LALMSQEEEEME | 388 |
KCNJ5 | ETN-TPS----CCAKELAEMKREGRLLQYL>P<-SPPLLGGCAEAGL----DAEA-E------ | 399 |
KCNJ6 | ETS-TPS----LSAKELAELASRAELPLSW>S<-VSSKLNQHAELET----EEEEKN------ | 403 |
KCNJ8 | KVA-APR----CSARELDEKPSILIQTLQK>S<ELS-H------QNS----LRKRNSMRRNNS | 391 |
KCNJ9 | EVP-TPS----CSARELAEAAARLDAHLYW>S<-IPSRLDEKVEEEG----AGEGAG------ | 371 |
KCNJ10 | KVAS-PSGLRDSTVRYGDPEKLK------->-<------------------LEESL--R---E | 363 |
KCNJ11 | KVP-TPL----CTARQLDEDHSLLEALTLA>S<----A------RGP----LRKRS------- | 372 |
KCNJ12 | EVPSTPR----CSAKDLVEN----KFLLPS>A<-----N-SFCYENE----LAFLSRDEEDEA | 392 |
KCNJ13 | PEFPTPL----VS-KSP---NRT------->-<-------------------DLDIHINGQSI | 348 |
KCNJ14 | EVPGTPV----CSAKELDERAEQASHSLKS>S<FPGSLT-AFCYENE----LALSCCQEEDED | 405 |
KCNJ15 | KSP---D----CTFYCADSEKQQ------->-<------------------LEEKY--RQ-ED | 359 |
KCNJ16 | EVY-APF----CSAKQLDWK----DQQLHI>E<KAPPVR-ESCTSDTKARRRSFSAVAIVSSC | 383 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A371E | c.1112C>A | Putative Benign | SIFT: Polyphen: | ||
p.A371S | c.1111G>T | Putative Benign | SIFT: tolerated Polyphen: benign |