No paralogue variants have been mapped to residue 353 for KCNJ2.
KCNJ2 | HRYEPVLFEE-KHYYKVDYSRFHKTYEVPN>T<PL----CSARDLAEK----KYILSNA---- | 371 |
KCNJ1 | YRFAPIVSKTKEGKYRVDFHNFSKTVEVET>-<PH----CAMCLYNEKDVR------------ | 366 |
KCNJ3 | HRFFPVISLE-EGFFKVDYSQFHATFEVP->T<PP----YSVKEQEEMLLMSSPLIAPA-ITN | 378 |
KCNJ4 | HRFEPVVFEE-KSHYKVDYSRFHKTYEVAG>T<PC----CSARELQES----KITVLPAPPPP | 367 |
KCNJ5 | HRFTPVLTLE-KGFYEVDYNTFHDTYETN->T<PS----CCAKELAEMKREGRLLQYLP-SPP | 384 |
KCNJ6 | YRFTPVLTLE-DGFYEVDYNSFHETYETS->T<PS----LSAKELAELASRAELPLSWS-VSS | 387 |
KCNJ8 | HRFVSIVTEE-EGVYSVDYSKFGNTVKVA->A<PR----CSARELDEKPSILIQTLQKSELS- | 375 |
KCNJ9 | HRFTSVLTLE-DGFYEVDYASFHETFEVP->T<PS----CSARELAEAAARLDAHLYWS-IPS | 355 |
KCNJ10 | YEFTPAISLSASGKYIADFSLFDQVVKVAS>-<PSGLRDSTVRYGDPEKLK------------ | 356 |
KCNJ11 | QRFVPIVAEE-DGRYSVDYSKFGNTVKVP->T<PL----CTARQLDEDHSLLEALTLAS---- | 363 |
KCNJ12 | HRFEPVLFEE-KNQYKIDYSHFHKTYEVPS>T<PR----CSAKDLVEN----KFLLPSA---- | 372 |
KCNJ13 | HCFASLLTRGSKGEYQIKMENFDKTVPEFP>T<PL----VS-KSP---NRT------------ | 337 |
KCNJ14 | HRFEPVLFQR-GSQYEVDYRHFHRTYEVPG>T<PV----CSAKELDERAEQASHSLKSSFPGS | 384 |
KCNJ15 | FEFVPVVSLSKNGKYVADFSQFEQIRKSP->-<-D----CTFYCADSEKQQ------------ | 350 |
KCNJ16 | HRFNDVLEVK-RKYYKVNCLQFEGSVEVY->A<PF----CSAKQLDWK----DQQLHIEKAPP | 358 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T353A | c.1057A>G | Putative Benign | SIFT: Polyphen: | ||
p.T353S | c.1058C>G | Unknown | SIFT: deleterious Polyphen: probably damaging |