No paralogue variants have been mapped to residue 79 for SCN5A.
SCN5A | -EAPRPQLDLQASKKLPDLYGNPPQELIGE>P<LEDLDPFYSTQK-TFI-VLNKGKTIFRFSA | 107 |
SCN1A | -NGPKPNSDLEAGKNLPFIYGDIPPEMVSE>P<LEDLDPYYINKK-TFI-VLNKGKAIFRFSA | 104 |
SCN2A | -NGPKPNSDLEAGKSLPFIYGDIPPEMVSV>P<LEDLDPYYINKK-TFI-VLNKGKAISRFSA | 105 |
SCN3A | -NKPKPNSDLEAGKNLPFIYGDIPPEMVSE>P<LEDLDPYYINKK-TFI-VMNKGKAIFRFSA | 104 |
SCN4A | -PERKPRSDLEAGKNLPMIYGDPPPEVIGI>P<LEDLDPYYSNKK-TFI-VLNKGKAIFRFSA | 107 |
SCN7A | -EDLKPTPDLEVGKKLPFIYGNLSQGMVSE>P<LEDVDPYYYKKKNTFI-VLNKNRTIFRFNA | 94 |
SCN8A | -SKPKPNSDLEAGKSLPFIYGDIPQGLVAV>P<LEDFDPYYLTQK-TFV-VLNRGKTLFRFSA | 108 |
SCN9A | -EAPKPSSDLEAGKQLPFIYGDIPPGMVSE>P<LEDLDPYYADKK-TFI-VLNKGKTIFRFNA | 102 |
SCN10A | -EKPRPQLDLKACNQLPKFYGELPAELIGE>P<LEDLDPFYSTHR-TFM-VLNKGRTISRFSA | 106 |
SCN11A | -PQPRPQLDLKASRKLPKLYGDIPRELIGK>P<LEDLDPFYRNHK-TFM-VLNRKRTIYRFSA | 105 |
CACNA1A | -GSRQGGQ--------PGA----------->Q<RMYKQSMAQRARTMAL-YNPIPVRQNCLTV | 74 |
CACNA1B | -GPGPGGLQ-------PGQ----------->R<VLYKQSIAQRARTMAL-YNPIPVKQNCFTV | 71 |
CACNA1C | -IPTPGAALSWQAAIDAARQAKLMGSAGNA>T<ISTVSST-QRKRQQYG-KPKKQGSTTATRP | 100 |
CACNA1D | PNSSKQTVLSWQAAIDAARQAKAAQTMSTS>A<PPPVGSLSQRKRQQYA-KSKKQGNSSNSRP | 102 |
CACNA1E | -TPVPA----------SGQ----------->A<AAYKQTKAQRARTMAL-YNPIPVRQNCFTV | 65 |
CACNA1F | LCPGP----P-------AV--------EGE>S<SGASGLGTPKRRNQHS-KHKTVAVASAQRS | 68 |
CACNA1G | -AGGRP-----------G-----------P>G<SA-------EKDPG-SADSEAEGLPYPALA | 57 |
CACNA1H | -VSPSE-----------S-----------P>-<AA-------ERGAELG-ADEEQRVPYPALA | 76 |
CACNA1I | -P--RS--P-------PS-----------S>P<PG-------LEEPL-D-G-ADPHVPHPDLA | 55 |
CACNA1S | ------------------------------>-<-----SSPQDEGLRKK-QPKKPVPEILPRP | 27 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P79S | c.235C>T | Putative Benign | rs200923894 | SIFT: deleterious Polyphen: probably damaging | |
p.P79H | c.236C>A | Putative Benign | SIFT: Polyphen: | ||
p.P79A | c.235C>G | Putative Benign | SIFT: Polyphen: |