No paralogue variants have been mapped to residue 273 for SCN5A.
| SCN5A | LIQSVKKLADVMVLTVFCLSVFALIGLQLF>M<GNLRHKCVR--------------------N | 283 |
| SCN1A | LIQSVKKLSDVMILTVFCLSVFALIGLQLF>M<GNLRNKCIQ-WP-PTNASLEEH-SI-EKNI | 296 |
| SCN2A | LIQSVKKLSDVMILTVFCLSVFALIGLQLF>M<GNLRNKCLQ-WP-PDNSSFEIN-ITSFFNN | 298 |
| SCN3A | LIQSVKKLSDVMILTVFCLSVFALIGLQLF>M<GNLRNKCLQ-WP-PSDSAFETN-TTSYFNG | 297 |
| SCN4A | LIQSVKKLSDVMILTVFCLSVFALVGLQLF>M<GNLRQKCVR-WP-PPFN--DTN-TTWYSND | 298 |
| SCN7A | LIHCLKQLIGVIILTLFFLSIFSLIGMGLF>M<GNLKHKCFR-WP-QENE------------- | 275 |
| SCN8A | LIQSVKKLSDVMILTVFCLSVFALIGLQLF>M<GNLRNKCVV-WP------------------ | 285 |
| SCN9A | LIQSVKKLSDVMILTVFCLSVFALIGLQLF>M<GNLKHKCFR-NS------------------ | 279 |
| SCN10A | LIHSVKKLADVTILTIFCLSVFALVGLQLF>K<GNLKNKCVK-N------------------- | 279 |
| SCN11A | LLRSVKKLVNVIILTFFCLSIFALVGQQLF>M<GSLNLKCIS-R------------------- | 286 |
| CACNA1A | IMKAMIPLLQIGLLLFFAILIFAIIGLEFY>M<GKFHTTCFE-E-GTD------------DI- | 264 |
| CACNA1B | IMKAMVPLLQIGLLLFFAILMFAIIGLEFY>M<GKFHKACFP-N-STD------------A-- | 260 |
| CACNA1C | IIKAMVPLLHIALLVLFVIIIYAIIGLELF>M<GKMHKTCYNQEGIAD-------------V- | 307 |
| CACNA1D | IIKAMVPLLHIALLVLFVIIIYAIIGLELF>I<GKMHKTCFF-A-DSD-------------I- | 308 |
| CACNA1E | IMKAMVPLLQIGLLLFFAILMFAIIGLEFY>S<GKLHRACFM-N-NSG------------IL- | 259 |
| CACNA1F | IMKALVPLLHIALLVLFVIIIYAIIGLELF>L<GRMHKTCYF-L-GSD-------------M- | 274 |
| CACNA1G | LLDTLPMLGNVLLLCFFVFFIFGIVGVQLW>A<GLLRNRCFL-P-ENFSLPLSVD-LE-RYYQ | 260 |
| CACNA1H | LLDTLPMLGNVLLLCFFVFFIFGIVGVQLW>A<GLLRNRCFL-D-SAFVRNNNLTFLR-PYYQ | 280 |
| CACNA1I | LLDTLPMLGNVLLLCFFVFFIFGIIGVQLW>A<GLLRNRCFL-E-ENFTIQGDVA-LP-PYYQ | 258 |
| CACNA1S | IFKAMLPLFHIALLVLFMVIIYAIIGLELF>K<GKMHKTCYF-I-GTD-------------I- | 233 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.M273T | c.818T>C | Putative Benign | rs200076065 | SIFT: deleterious Polyphen: probably damaging |