No paralogue variants have been mapped to residue 382 for KCNJ2.
KCNJ2 | ---KYILSNA-----N-SFCYENE----VA>L<TSKEEDDSENGVPE------STS-----TD | 401 |
KCNJ1 | VR---------------------------A>R<MK--RG-YDN-------------------- | 375 |
KCNJ3 | LMSSPLIAPA-ITNSKERHNSVEC----LD>G<LDDITTKLPSKLQK------ITG-----RE | 410 |
KCNJ4 | ---KITVLPAPPPPPS-AFCYENE----LA>L<MSQEEEEMEEEAAAAAAVAAGLGLEAGSKE | 409 |
KCNJ5 | REGRLLQYLP-SPPLLGGCAEAGL----DA>E<A-E--------------------------- | 399 |
KCNJ6 | SRAELPLSWS-VSSKLNQHAELET----EE>E<EKN--------------------------- | 403 |
KCNJ8 | SILIQTLQKSELS-H------QNS----LR>K<RNSMRRNNSMRRNN------SIR-----RN | 401 |
KCNJ9 | ARLDAHLYWS-IPSRLDEKVEEEG----AG>E<GAG--------------------------- | 371 |
KCNJ10 | LK--------------------------LE>E<SL--R---EQ-------------------- | 364 |
KCNJ11 | SLLEALTLAS----A------RGP----LR>K<RS---------------------------- | 372 |
KCNJ12 | ---KFLLPSA-----N-SFCYENE----LA>F<LSRDEEDEADGDQD------GRS-----RD | 402 |
KCNJ13 | RT---------------------------D>L<DIHINGQSID-------------------- | 349 |
KCNJ14 | EQASHSLKSSFPGSLT-AFCYENE----LA>L<SCCQEEDEDDETEE------GNG-----VE | 415 |
KCNJ15 | QQ--------------------------LE>E<KY--RQ-EDQ-------------------- | 360 |
KCNJ16 | ---DQQLHIEKAPPVR-ESCTSDTKARRRS>F<SAVAIVSSCENP-E------ETT-----TS | 392 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L382L | c.1146C>T | Conflict | SIFT: Polyphen: | ||
Reports | Inherited Arrhythmia | LQTS | Andersen-Tawil syndrome associated with aborted sudden cardiac death: atrial pacing was effective for ventricular arrhythmias. Am J Med Sci. 2012 344(3):248-50. doi: 10.1097/MAJ.0b013e3182560209. 22739561 |