No paralogue variants have been mapped to residue 356 for KCNJ2.
KCNJ2 | FEE-KHYYKVDYSRFHKTYEVPNTPL---->C<SARDLAEK----KYILSNA-----N-SFCY | 376 |
KCNJ1 | SKTKEGKYRVDFHNFSKTVEVET-PH---->C<AMCLYNEKDVR------------------- | 366 |
KCNJ3 | SLE-EGFFKVDYSQFHATFEVP-TPP---->Y<SVKEQEEMLLMSSPLIAPA-ITNSKERHNS | 385 |
KCNJ4 | FEE-KSHYKVDYSRFHKTYEVAGTPC---->C<SARELQES----KITVLPAPPPPPS-AFCY | 373 |
KCNJ5 | TLE-KGFYEVDYNTFHDTYETN-TPS---->C<CAKELAEMKREGRLLQYLP-SPPLLGGCAE | 391 |
KCNJ6 | TLE-DGFYEVDYNSFHETYETS-TPS---->L<SAKELAELASRAELPLSWS-VSSKLNQHAE | 394 |
KCNJ8 | TEE-EGVYSVDYSKFGNTVKVA-APR---->C<SARELDEKPSILIQTLQKSELS-H------ | 376 |
KCNJ9 | TLE-DGFYEVDYASFHETFEVP-TPS---->C<SARELAEAAARLDAHLYWS-IPSRLDEKVE | 362 |
KCNJ10 | SLSASGKYIADFSLFDQVVKVAS-PSGLRD>S<TVRYGDPEKLK------------------- | 356 |
KCNJ11 | AEE-DGRYSVDYSKFGNTVKVP-TPL---->C<TARQLDEDHSLLEALTLAS----A------ | 364 |
KCNJ12 | FEE-KNQYKIDYSHFHKTYEVPSTPR---->C<SAKDLVEN----KFLLPSA-----N-SFCY | 377 |
KCNJ13 | TRGSKGEYQIKMENFDKTVPEFPTPL---->V<S-KSP---NRT------------------- | 337 |
KCNJ14 | FQR-GSQYEVDYRHFHRTYEVPGTPV---->C<SAKELDERAEQASHSLKSSFPGSLT-AFCY | 390 |
KCNJ15 | SLSKNGKYVADFSQFEQIRKSP---D---->C<TFYCADSEKQQ------------------- | 350 |
KCNJ16 | EVK-RKYYKVNCLQFEGSVEVY-APF---->C<SAKQLDWK----DQQLHIEKAPPVR-ESCT | 364 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C356F | c.1067G>T | Putative Benign | rs368406938 | SIFT: deleterious Polyphen: probably damaging |