No paralogue variants have been mapped to residue 1391 for SCN5A.
SCN5A | CINQTEGDL-P-LNYTIVNNKSQCESLNLT>G<E--LYWTKVKVNFDNVGAGYLALLQVATFK | 1419 |
SCN1A | CINTTTGDR---FDIEDVNNHTDCLKLIER>N<ET-ARWKNVKVNFDNVGFGYLSLLQVATFK | 1432 |
SCN2A | CINYTTGEM---FDVSVVNNYSECKALIES>N<QT-ARWKNVKVNFDNVGLGYLSLLQVATFK | 1422 |
SCN3A | CVNMTTGNM---FDISDVNNLSDCQALGK->-<Q--ARWKNVKVNFDNVGAGYLALLQVATFK | 1417 |
SCN4A | CINTTTSER---FDISEVNNKSECESLMHT>G<Q--VRWLNVKVNYDNVGLGYLSLLQVATFK | 1244 |
SCN7A | CIDPTSGER---FPSSEVMNKSRCESLLFN>E<S--MLWENAKMNFDNVGNGFLSLLQVATFN | 1142 |
SCN8A | CFNETSEIR---FEIEDVNNKTECEKLMEG>N<NTEIRWKNVKINFDNVGAGYLALLQVATFK | 1413 |
SCN9A | CINTTDGSR---FPASQVPNRSECFALMNV>S<QN-VRWKNLKVNFDNVGLGYLSLLQVATFK | 1395 |
SCN10A | CINYTDGEF-SLVPLSIVNNKSDCKIQNST>G<S--FFWVNVKVNFDNVAMGYLALLQVATFK | 1367 |
SCN11A | CINGTDSVI----NYTIITNKSQCESGN-->-<---FSWINQKVNFDNVGNAYLALLQVATFK | 1257 |
CACNA1A | CTDESKEFEKDCRGKYLLYEKNEVK----A>R<--DREWKKYEFHYDNVLWALLTLFTVSTGE | 1460 |
CACNA1B | CTDESKELERDCRGQYLDYEKEEVE----A>Q<--PRQWKKYDFHYDNVLWALLTLFTVSTGE | 1366 |
CACNA1C | CSDSSKQTEAECKGNYITYKDGEVDHP-II>Q<--PRSWENSKFDFDNVLAAMMALFTVSTFE | 1115 |
CACNA1D | CTDEAKSNPEECRGLFILYKDGDVDSP-VV>R<--ERIWQNSDFNFDNVLSAMMALFTVSTFE | 1121 |
CACNA1E | CTDSSKDTEKECIGNYVDHEKNKME----V>K<--GREWKRHEFHYDNIIWALLTLFTVSTGE | 1372 |
CACNA1F | CTDEAKHTPQECKGSFLVYPDGDVSRP-LV>R<--ERLWVNSDFNFDNVLSAMMALFTVSTFE | 1086 |
CACNA1G | CQGED---------TRNITNKSDCA----E>A<--SYRWVRHKYNFDNLGQALMSLFVLASKD | 1486 |
CACNA1H | CEGPD---------TRNISTKAQCR----A>A<--HYRWVRRKYNFDNLGQALMSLFVLSSKD | 1504 |
CACNA1I | CLGVD---------TRNITNRSDCM----A>A<--NYRWVHHKYNFDNLGQALMSLFVLASKD | 1380 |
CACNA1S | CTDLSKMTEEECRGYYYVYKDGDPMQI-EL>R<--HREWVHSDFHFDNVLSAMMSLFTVSTFE | 1014 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G1391R | c.4171G>A | Putative Benign | SIFT: Polyphen: |