No paralogue variants have been mapped to residue 345 for KCNH2.
KCNH2 | STSDSDLVRYR---TISKIPQITLNFVDLK>G<DPFLASP-T-SDREII-AP-KIK-E--R-T | 367 |
KCNH1 | --------KFA------------------R>L<TRALTSS-R-GVLQQL-APS-VQKG--E-N | 177 |
KCNH3 | ---------S------------------KG>F<NANRRRS-R-AVLYHL-SGH-LQK---Q-P | 185 |
KCNH4 | ---------A-----------------TWK>F<RSARRRS-R-TVLHRL-TGH-FGR---R-G | 187 |
KCNH5 | --------KFA------------------R>L<TRALTNS-R-SVLQQL-TPM-NKT---E-V | 174 |
KCNH6 | ----TGRGKYR---TISQIPQFTLNFVEFN>L<EKHRSSS-T-TEIEII-APHKVV-E--R-T | 216 |
KCNH7 | STSDSNLNKYS---TINKIPQLTLNFSEVK>T<EKKNSSPPS-SDKTII-AP-KVK-D--R-T | 367 |
KCNH8 | ---------A-----------------GTH>F<DSARRRS-R-AVLYHI-SGH-LQR---R-E | 182 |
CNGA1 | -------------------------KKK-K>K<KEKKSKS-D-DKNENKNDPE-KK------- | 129 |
CNGA2 | -------------------------FLE-R>F<RGPELQT-V-TTQEGDGKG--D-------- | 116 |
CNGA3 | -------------------------FPD-R>F<RGAELKE-V-SSQESNAQ-A-NVGS--QEP | 126 |
CNGA4 | ------------------------------>-<---KVKT-T-ES------------------ | 12 |
CNGB1 | DRLQELVKLFKERTEKV-KEKLIDPDVTSD>E<E-SPKPSPA-KKAPEP-APD-TKPAEAE-P | 620 |
CNGB3 | AQLHNLVKRMRQRTALY-KKKLVEGDLSS->-<---PEASPQ-TAKPTA-VPP-VKES--D-D | 178 |
HCN1 | -----------------------------E>D<AEGPR-R-QYGFMQRQ--FT-SM----L-Q | 103 |
HCN2 | -----------------------------P>A<GEPRG-S-QASFMQRQ--FG-AL----L-Q | 172 |
HCN3 | -----------------------------P>E<------P-----KRRH--LG-TL----L-Q | 54 |
HCN4 | -----------------------------P>E<AEVRL-G-QAGFMQRQ--FG-AM----L-Q | 223 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G345S | c.1033G>A | Putative Benign | SIFT: Polyphen: |