No paralogue variants have been mapped to residue 337 for KCNH2.
KCNH2 | PLRSGLLNSTSDSDLVRYR---TISKIPQI>T<LNFVDLKGDPFLASP-T-SDREII-AP-KI | 363 |
KCNH1 | ----------------KFA----------->-<------RLTRALTSS-R-GVLQQL-APS-V | 172 |
KCNH3 | -----------------S------------>-<-----KGFNANRRRS-R-AVLYHL-SGH-L | 181 |
KCNH4 | -----------------A------------>-<----TWKFRSARRRS-R-TVLHRL-TGH-F | 183 |
KCNH5 | ----------------KFA----------->-<------RLTRALTNS-R-SVLQQL-TPM-N | 170 |
KCNH6 | ------------TGRGKYR---TISQIPQF>T<LNFVEFNLEKHRSSS-T-TEIEII-APHKV | 212 |
KCNH7 | HIKSSLLGSTSDSNLNKYS---TINKIPQL>T<LNFSEVKTEKKNSSPPS-SDKTII-AP-KV | 363 |
KCNH8 | -----------------A------------>-<----GTHFDSARRRS-R-AVLYHI-SGH-L | 178 |
CNGA1 | ------------------------------>-<--KKK-KKKEKKSKS-D-DKNENKNDPE-K | 128 |
CNGA2 | ------------------------------>-<--FLE-RFRGPELQT-V-TTQEGDGKG--D | 116 |
CNGA3 | ------------------------------>-<--FPD-RFRGAELKE-V-SSQESNAQ-A-N | 120 |
CNGA4 | ------------------------------>-<-----------KVKT-T-ES---------- | 12 |
CNGB1 | STNSAIINDRLQELVKLFKERTEKV-KEKL>I<DPDVTSDEE-SPKPSPA-KKAPEP-APD-T | 613 |
CNGB3 | PVINEYADAQLHNLVKRMRQRTALY-KKKL>V<EGDLSS-----PEASPQ-TAKPTA-VPP-V | 173 |
HCN1 | ------------------------------>-<------EDAEGPR-R-QYGFMQRQ--FT-S | 100 |
HCN2 | ------------------------------>-<------PAGEPRG-S-QASFMQRQ--FG-A | 169 |
HCN3 | ------------------------------>-<------PE------P-----KRRH--LG-T | 51 |
HCN4 | ------------------------------>-<------PEAEVRL-G-QAGFMQRQ--FG-A | 220 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T337S | c.1010C>G | Putative Benign | rs41311018 | SIFT: tolerated Polyphen: benign |