No paralogue variants have been mapped to residue 349 for KCNJ2.
KCNJ2 | ILWGHRYEPVLFEE-KHYYKVDYSRFHKTY>E<VPNTPL----CSARDLAEK----KYILSNA | 371 |
KCNJ1 | VLWGYRFAPIVSKTKEGKYRVDFHNFSKTV>E<VET-PH----CAMCLYNEKDVR-------- | 366 |
KCNJ3 | VLWGHRFFPVISLE-EGFFKVDYSQFHATF>E<VP-TPP----YSVKEQEEMLLMSSPLIAPA | 375 |
KCNJ4 | ILWGHRFEPVVFEE-KSHYKVDYSRFHKTY>E<VAGTPC----CSARELQES----KITVLPA | 363 |
KCNJ5 | VLWGHRFTPVLTLE-KGFYEVDYNTFHDTY>E<TN-TPS----CCAKELAEMKREGRLLQYLP | 381 |
KCNJ6 | ILWGYRFTPVLTLE-DGFYEVDYNSFHETY>E<TS-TPS----LSAKELAELASRAELPLSWS | 384 |
KCNJ8 | IQWGHRFVSIVTEE-EGVYSVDYSKFGNTV>K<VA-APR----CSARELDEKPSILIQTLQKS | 372 |
KCNJ9 | VLWGHRFTSVLTLE-DGFYEVDYASFHETF>E<VP-TPS----CSARELAEAAARLDAHLYWS | 352 |
KCNJ10 | ILWGYEFTPAISLSASGKYIADFSLFDQVV>K<VAS-PSGLRDSTVRYGDPEKLK-------- | 356 |
KCNJ11 | ILWGQRFVPIVAEE-DGRYSVDYSKFGNTV>K<VP-TPL----CTARQLDEDHSLLEALTLAS | 363 |
KCNJ12 | ILWGHRFEPVLFEE-KNQYKIDYSHFHKTY>E<VPSTPR----CSAKDLVEN----KFLLPSA | 372 |
KCNJ13 | IMLHHCFASLLTRGSKGEYQIKMENFDKTV>P<EFPTPL----VS-KSP---NRT-------- | 337 |
KCNJ14 | LLWGHRFEPVLFQR-GSQYEVDYRHFHRTY>E<VPGTPV----CSAKELDERAEQASHSLKSS | 380 |
KCNJ15 | IYWGFEFVPVVSLSKNGKYVADFSQFEQIR>K<SP---D----CTFYCADSEKQQ-------- | 350 |
KCNJ16 | ILWGHRFNDVLEVK-RKYYKVNCLQFEGSV>E<VY-APF----CSAKQLDWK----DQQLHIE | 354 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E349K | c.1045G>A | Putative Benign | rs375330016 | SIFT: deleterious Polyphen: possibly damaging |