Paralogue Annotation for SCN5A residue 79

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 79
Reference Amino Acid: P - Proline
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 79

No paralogue variants have been mapped to residue 79 for SCN5A.



SCN5A-EAPRPQLDLQASKKLPDLYGNPPQELIGE>P<LEDLDPFYSTQK-TFI-VLNKGKTIFRFSA107
SCN1A-NGPKPNSDLEAGKNLPFIYGDIPPEMVSE>P<LEDLDPYYINKK-TFI-VLNKGKAIFRFSA104
SCN2A-NGPKPNSDLEAGKSLPFIYGDIPPEMVSV>P<LEDLDPYYINKK-TFI-VLNKGKAISRFSA105
SCN3A-NKPKPNSDLEAGKNLPFIYGDIPPEMVSE>P<LEDLDPYYINKK-TFI-VMNKGKAIFRFSA104
SCN4A-PERKPRSDLEAGKNLPMIYGDPPPEVIGI>P<LEDLDPYYSNKK-TFI-VLNKGKAIFRFSA107
SCN7A-EDLKPTPDLEVGKKLPFIYGNLSQGMVSE>P<LEDVDPYYYKKKNTFI-VLNKNRTIFRFNA94
SCN8A-SKPKPNSDLEAGKSLPFIYGDIPQGLVAV>P<LEDFDPYYLTQK-TFV-VLNRGKTLFRFSA108
SCN9A-EAPKPSSDLEAGKQLPFIYGDIPPGMVSE>P<LEDLDPYYADKK-TFI-VLNKGKTIFRFNA102
SCN10A-EKPRPQLDLKACNQLPKFYGELPAELIGE>P<LEDLDPFYSTHR-TFM-VLNKGRTISRFSA106
SCN11A-PQPRPQLDLKASRKLPKLYGDIPRELIGK>P<LEDLDPFYRNHK-TFM-VLNRKRTIYRFSA105
CACNA1A-GSRQGGQ--------PGA----------->Q<RMYKQSMAQRARTMAL-YNPIPVRQNCLTV74
CACNA1B-GPGPGGLQ-------PGQ----------->R<VLYKQSIAQRARTMAL-YNPIPVKQNCFTV71
CACNA1C-IPTPGAALSWQAAIDAARQAKLMGSAGNA>T<ISTVSST-QRKRQQYG-KPKKQGSTTATRP100
CACNA1DPNSSKQTVLSWQAAIDAARQAKAAQTMSTS>A<PPPVGSLSQRKRQQYA-KSKKQGNSSNSRP102
CACNA1E-TPVPA----------SGQ----------->A<AAYKQTKAQRARTMAL-YNPIPVRQNCFTV65
CACNA1FLCPGP----P-------AV--------EGE>S<SGASGLGTPKRRNQHS-KHKTVAVASAQRS68
CACNA1G-AGGRP-----------G-----------P>G<SA-------EKDPG-SADSEAEGLPYPALA57
CACNA1H-VSPSE-----------S-----------P>-<AA-------ERGAELG-ADEEQRVPYPALA76
CACNA1I-P--RS--P-------PS-----------S>P<PG-------LEEPL-D-G-ADPHVPHPDLA55
CACNA1S------------------------------>-<-----SSPQDEGLRKK-QPKKPVPEILPRP27
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P79Sc.235C>T Putative BenignSIFT: deleterious
Polyphen: probably damaging
p.P79Hc.236C>A Putative BenignSIFT:
Polyphen:
p.P79Ac.235C>G Putative BenignSIFT:
Polyphen: