No paralogue variants have been mapped to residue 1423 for SCN5A.
| SCN5A | LYWTKVKVNFDNVGAGYLALLQVATFKGWM>D<IMYAAVDSRGYEEQPQWEYNLYMYIYFVIF | 1453 |
| SCN1A | ARWKNVKVNFDNVGFGYLSLLQVATFKGWM>D<IMYAAVDSRNVELQPKYEESLYMYLYFVIF | 1466 |
| SCN2A | ARWKNVKVNFDNVGLGYLSLLQVATFKGWM>D<IMYAAVDSRNVELQPKYEDNLYMYLYFVIF | 1456 |
| SCN3A | ARWKNVKVNFDNVGAGYLALLQVATFKGWM>D<IMYAAVDSRDVKLQPVYEENLYMYLYFVIF | 1451 |
| SCN4A | VRWLNVKVNYDNVGLGYLSLLQVATFKGWM>D<IMYAAVDSREKEEQPQYEVNLYMYLYFVIF | 1278 |
| SCN7A | MLWENAKMNFDNVGNGFLSLLQVATFNGWI>T<IMNSAIDSVAVNIQPHFEVNIYMYCYFINF | 1176 |
| SCN8A | IRWKNVKINFDNVGAGYLALLQVATFKGWM>D<IMYAAVDSRKPDEQPKYEDNIYMYIYFVIF | 1447 |
| SCN9A | VRWKNLKVNFDNVGLGYLSLLQVATFKGWT>I<IMYAAVDSVNVDKQPKYEYSLYMYIYFVVF | 1429 |
| SCN10A | FFWVNVKVNFDNVAMGYLALLQVATFKGWM>D<IMYAAVDSREVNMQPKWEDNVYMYLYFVIF | 1401 |
| SCN11A | FSWINQKVNFDNVGNAYLALLQVATFKGWM>D<IIYAAVDSTEKEQQPEFESNSLGYIYFVVF | 1291 |
| CACNA1A | REWKKYEFHYDNVLWALLTLFTVSTGEGWP>Q<VLKHSVDATFENQGPSPGYRMEMSIFYVVY | 1494 |
| CACNA1B | RQWKKYDFHYDNVLWALLTLFTVSTGEGWP>M<VLKHSVDATYEEQGPSPGYRMELSIFYVVY | 1400 |
| CACNA1C | RSWENSKFDFDNVLAAMMALFTVSTFEGWP>E<LLYRSIDSHTEDKGPIYNYRVEISIFFIIY | 1149 |
| CACNA1D | RIWQNSDFNFDNVLSAMMALFTVSTFEGWP>A<LLYKAIDSNGENIGPIYNHRVEISIFFIIY | 1155 |
| CACNA1E | REWKRHEFHYDNIIWALLTLFTVSTGEGWP>Q<VLQHSVDVTEEDRGPSRSNRMEMSIFYVVY | 1406 |
| CACNA1F | RLWVNSDFNFDNVLSAMMALFTVSTFEGWP>A<LLYKAIDAYAEDHGPIYNYRVEISVFFIVY | 1120 |
| CACNA1G | YRWVRHKYNFDNLGQALMSLFVLASKDGWV>D<IMYDGLDAVGVDQQPIMNHNPWMLLYFISF | 1520 |
| CACNA1H | YRWVRRKYNFDNLGQALMSLFVLSSKDGWV>N<IMYDGLDAVGVDQQPVQNHNPWMLLYFISF | 1538 |
| CACNA1I | YRWVHHKYNFDNLGQALMSLFVLASKDGWV>N<IMYNGLDAVAVDQQPVTNHNPWMLLYFISF | 1414 |
| CACNA1S | REWVHSDFHFDNVLSAMMSLFTVSTFEGWP>Q<LLYKAIDSNAEDVGPIYNNRVEMAIFFIIY | 1048 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D1423G | c.4268A>G | Putative Benign | rs201652703 | SIFT: deleterious Polyphen: probably damaging | |
| p.D1423H | c.4267G>C | Putative Benign | SIFT: Polyphen: | ||
| p.Asp1423Asn | c.4267G>A | Unknown | SIFT: Polyphen: |