No paralogue variants have been mapped to residue 370 for KCNJ2.
KCNJ2 | YEVPNTPL----CSARDLAEK----KYILS>N<A-----N-SFCYENE----VALTSKEEDDS | 390 |
KCNJ1 | VEVET-PH----CAMCLYNEKDVR------>-<--------------------ARMK--RG-Y | 373 |
KCNJ3 | FEVP-TPP----YSVKEQEEMLLMSSPLIA>P<A-ITNSKERHNSVEC----LDGLDDITTKL | 399 |
KCNJ4 | YEVAGTPC----CSARELQES----KITVL>P<APPPPPS-AFCYENE----LALMSQEEEEM | 387 |
KCNJ5 | YETN-TPS----CCAKELAEMKREGRLLQY>L<P-SPPLLGGCAEAGL----DAEA-E----- | 399 |
KCNJ6 | YETS-TPS----LSAKELAELASRAELPLS>W<S-VSSKLNQHAELET----EEEEKN----- | 403 |
KCNJ8 | VKVA-APR----CSARELDEKPSILIQTLQ>K<SELS-H------QNS----LRKRNSMRRNN | 390 |
KCNJ9 | FEVP-TPS----CSARELAEAAARLDAHLY>W<S-IPSRLDEKVEEEG----AGEGAG----- | 371 |
KCNJ10 | VKVAS-PSGLRDSTVRYGDPEKLK------>-<-------------------LEESL--R--- | 362 |
KCNJ11 | VKVP-TPL----CTARQLDEDHSLLEALTL>A<S----A------RGP----LRKRS------ | 372 |
KCNJ12 | YEVPSTPR----CSAKDLVEN----KFLLP>S<A-----N-SFCYENE----LAFLSRDEEDE | 391 |
KCNJ13 | VPEFPTPL----VS-KSP---NRT------>-<--------------------DLDIHINGQS | 347 |
KCNJ14 | YEVPGTPV----CSAKELDERAEQASHSLK>S<SFPGSLT-AFCYENE----LALSCCQEEDE | 404 |
KCNJ15 | RKSP---D----CTFYCADSEKQQ------>-<-------------------LEEKY--RQ-E | 358 |
KCNJ16 | VEVY-APF----CSAKQLDWK----DQQLH>I<EKAPPVR-ESCTSDTKARRRSFSAVAIVSS | 382 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N370K | c.1110T>G | Putative Benign | SIFT: Polyphen: |