No paralogue variants have been mapped to residue 330 for KCNJ2.
KCNJ2 | GMVEATAMTTQCRSSYLANEILWGHRYEPV>L<FEE-KHYYKVDYSRFHKTYEVPNTPL---- | 355 |
KCNJ1 | GTVESTSATCQVRTSYVPEEVLWGYRFAPI>V<SKTKEGKYRVDFHNFSKTVEVET-PH---- | 354 |
KCNJ3 | GIVETTGMTCQARTSYTEDEVLWGHRFFPV>I<SLE-EGFFKVDYSQFHATFEVP-TPP---- | 355 |
KCNJ4 | GMVEATAMTTQARSSYLASEILWGHRFEPV>V<FEE-KSHYKVDYSRFHKTYEVAGTPC---- | 347 |
KCNJ5 | GMVEATGMTCQARSSYMDTEVLWGHRFTPV>L<TLE-KGFYEVDYNTFHDTYETN-TPS---- | 361 |
KCNJ6 | GMVEATGMTCQARSSYITSEILWGYRFTPV>L<TLE-DGFYEVDYNSFHETYETS-TPS---- | 364 |
KCNJ8 | GVVETTGITTQARTSYIAEEIQWGHRFVSI>V<TEE-EGVYSVDYSKFGNTVKVA-APR---- | 352 |
KCNJ9 | GMVEATGMTCQARSSYLVDEVLWGHRFTSV>L<TLE-DGFYEVDYASFHETFEVP-TPS---- | 332 |
KCNJ10 | GTVESTSATCQVRTSYLPEEILWGYEFTPA>I<SLSASGKYIADFSLFDQVVKVAS-PSGLRD | 344 |
KCNJ11 | GVVETTGITTQARTSYLADEILWGQRFVPI>V<AEE-DGRYSVDYSKFGNTVKVP-TPL---- | 343 |
KCNJ12 | GMVEATAMTTQARSSYLANEILWGHRFEPV>L<FEE-KNQYKIDYSHFHKTYEVPSTPR---- | 356 |
KCNJ13 | AMQEGTGEICQRRTSYLPSEIMLHHCFASL>L<TRGSKGEYQIKMENFDKTVPEFPTPL---- | 329 |
KCNJ14 | GMVEATAMTTQCRSSYLPGELLWGHRFEPV>L<FQR-GSQYEVDYRHFHRTYEVPGTPV---- | 360 |
KCNJ15 | ATVESTSAVCQSRTSYIPEEIYWGFEFVPV>V<SLSKNGKYVADFSQFEQIRKSP---D---- | 338 |
KCNJ16 | YTGDSTGTSHQSRSSYVPREILWGHRFNDV>L<EVK-RKYYKVNCLQFEGSVEVY-APF---- | 338 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L330F | c.988C>T | Putative Benign | SIFT: Polyphen: |