No paralogue variants have been mapped to residue 1370 for SCN5A.
SCN5A | VCLIFWLIFSIMGVNLFAGKFGRCINQTEG>D<L-P-LNYTIVNNKSQCESLNLTGE--LYWT | 1396 |
SCN1A | VCLIFWLIFSIMGVNLFAGKFYHCINTTTG>D<R---FDIEDVNNHTDCLKLIERNET-ARWK | 1409 |
SCN2A | VCLIFWLIFSIMGVNLFAGKFYHCINYTTG>E<M---FDVSVVNNYSECKALIESNQT-ARWK | 1399 |
SCN3A | VCLIFWLIFSIMGVNLFAGKFYHCVNMTTG>N<M---FDISDVNNLSDCQALGK--Q--ARWK | 1394 |
SCN4A | VCLIFWLIFSIMGVNLFAGKFYYCINTTTS>E<R---FDISEVNNKSECESLMHTGQ--VRWL | 1221 |
SCN7A | VCLMIWLIFSIMGVDLFAGRFYECIDPTSG>E<R---FPSSEVMNKSRCESLLFNES--MLWE | 1119 |
SCN8A | VCLIFWLIFSIMGVNLFAGKYHYCFNETSE>I<R---FEIEDVNNKTECEKLMEGNNTEIRWK | 1390 |
SCN9A | VCLIFWLIFSIMGVNLFAGKFYECINTTDG>S<R---FPASQVPNRSECFALMNVSQN-VRWK | 1372 |
SCN10A | VCLIFWLIFSIMGVNLFAGKFWRCINYTDG>E<F-SLVPLSIVNNKSDCKIQNSTGS--FFWV | 1344 |
SCN11A | VCLIFWLVFCILGVYFFSGKFGKCINGTDS>V<I----NYTIITNKSQCESGN------FSWI | 1234 |
CACNA1A | VYMLFMFIFAVVAVQLFKGKFFHCTDESKE>F<EKDCRGKYLLYEKNEVK----AR--DREWK | 1437 |
CACNA1B | VYMLFMFIFAVIAVQLFKGKFFYCTDESKE>L<ERDCRGQYLDYEKEEVE----AQ--PRQWK | 1343 |
CACNA1C | VTTLLQFMFACIGVQLFKGKLYTCSDSSKQ>T<EAECKGNYITYKDGEVDHP-IIQ--PRSWE | 1092 |
CACNA1D | VTTLLQFMFACIGVQLFKGKFYRCTDEAKS>N<PEECRGLFILYKDGDVDSP-VVR--ERIWQ | 1098 |
CACNA1E | VYKLFMFIFAVIAVQLFKGKFFYCTDSSKD>T<EKECIGNYVDHEKNKME----VK--GREWK | 1349 |
CACNA1F | VTTLLQFMFACIGVQLFKGKFYTCTDEAKH>T<PQECKGSFLVYPDGDVSRP-LVR--ERLWV | 1063 |
CACNA1G | ICCAFFIIFGILGVQLFKGKFFVCQGED-->-<------TRNITNKSDCA----EA--SYRWV | 1463 |
CACNA1H | ICCAFFIIFGILGVQLFKGKFYYCEGPD-->-<------TRNISTKAQCR----AA--HYRWV | 1481 |
CACNA1I | ICCAFFIIFGILGVQLFKGKFYHCLGVD-->-<------TRNITNRSDCM----AA--NYRWV | 1357 |
CACNA1S | VTTLLQFMFACIGVQLFKGKFFRCTDLSKM>T<EEECRGYYYVYKDGDPMQI-ELR--HREWV | 991 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1370G | c.4109A>G | Putative Benign | SIFT: Polyphen: |