No paralogue variants have been mapped to residue 85 for SCN5A.
SCN5A | QLDLQASKKLPDLYGNPPQELIGEPLEDLD>P<FYSTQK-TFI-VLNKGKTIFRFSATNALYV | 113 |
SCN1A | NSDLEAGKNLPFIYGDIPPEMVSEPLEDLD>P<YYINKK-TFI-VLNKGKAIFRFSATSALYI | 110 |
SCN2A | NSDLEAGKSLPFIYGDIPPEMVSVPLEDLD>P<YYINKK-TFI-VLNKGKAISRFSATPALYI | 111 |
SCN3A | NSDLEAGKNLPFIYGDIPPEMVSEPLEDLD>P<YYINKK-TFI-VMNKGKAIFRFSATSALYI | 110 |
SCN4A | RSDLEAGKNLPMIYGDPPPEVIGIPLEDLD>P<YYSNKK-TFI-VLNKGKAIFRFSATPALYL | 113 |
SCN7A | TPDLEVGKKLPFIYGNLSQGMVSEPLEDVD>P<YYYKKKNTFI-VLNKNRTIFRFNAASILCT | 100 |
SCN8A | NSDLEAGKSLPFIYGDIPQGLVAVPLEDFD>P<YYLTQK-TFV-VLNRGKTLFRFSATPALYI | 114 |
SCN9A | SSDLEAGKQLPFIYGDIPPGMVSEPLEDLD>P<YYADKK-TFI-VLNKGKTIFRFNATPALYM | 108 |
SCN10A | QLDLKACNQLPKFYGELPAELIGEPLEDLD>P<FYSTHR-TFM-VLNKGRTISRFSATRALWL | 112 |
SCN11A | QLDLKASRKLPKLYGDIPRELIGKPLEDLD>P<FYRNHK-TFM-VLNRKRTIYRFSAKHALFI | 111 |
CACNA1A | GQ--------PGA-----------QRMYKQ>S<MAQRARTMAL-YNPIPVRQNCLTVNRSLFL | 80 |
CACNA1B | GLQ-------PGQ-----------RVLYKQ>S<IAQRARTMAL-YNPIPVKQNCFTVNRSLFV | 77 |
CACNA1C | AALSWQAAIDAARQAKLMGSAGNATISTVS>S<T-QRKRQQYG-KPKKQGSTTATRPPRALLC | 106 |
CACNA1D | TVLSWQAAIDAARQAKAAQTMSTSAPPPVG>S<LSQRKRQQYA-KSKKQGNSSNSRPARALFC | 108 |
CACNA1E | ----------SGQ-----------AAAYKQ>T<KAQRARTMAL-YNPIPVRQNCFTVNRSLFI | 71 |
CACNA1F | ---P-------AV--------EGESSGASG>L<GTPKRRNQHS-KHKTVAVASAQRSPRALFC | 74 |
CACNA1G | -----------G-----------PGSA--->-<---EKDPG-SADSEAEGLPYPALAPVVFFY | 63 |
CACNA1H | -----------S-----------P-AA--->-<---ERGAELG-ADEEQRVPYPALAATVFFC | 82 |
CACNA1I | --P-------PS-----------SPPG--->-<---LEEPL-D-G-ADPHVPHPDLAPIAFFC | 61 |
CACNA1S | ------------------------------>S<SPQDEGLRKK-QPKKPVPEILPRPPRALFC | 33 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P85T | c.253C>A | Putative Benign | rs201658652 | SIFT: deleterious Polyphen: probably damaging | |
p.P85S | c.253C>T | Putative Benign | SIFT: Polyphen: |