No paralogue variants have been mapped to residue 275 for SCN5A.
SCN5A | QSVKKLADVMVLTVFCLSVFALIGLQLFMG>N<LRHKCVR--------------------NFT | 285 |
SCN1A | QSVKKLSDVMILTVFCLSVFALIGLQLFMG>N<LRNKCIQ-WP-PTNASLEEH-SI-EKNITV | 298 |
SCN2A | QSVKKLSDVMILTVFCLSVFALIGLQLFMG>N<LRNKCLQ-WP-PDNSSFEIN-ITSFFNNSL | 300 |
SCN3A | QSVKKLSDVMILTVFCLSVFALIGLQLFMG>N<LRNKCLQ-WP-PSDSAFETN-TTSYFNGTM | 299 |
SCN4A | QSVKKLSDVMILTVFCLSVFALVGLQLFMG>N<LRQKCVR-WP-PPFN--DTN-TTWYSNDTW | 300 |
SCN7A | HCLKQLIGVIILTLFFLSIFSLIGMGLFMG>N<LKHKCFR-WP-QENE--------------- | 275 |
SCN8A | QSVKKLSDVMILTVFCLSVFALIGLQLFMG>N<LRNKCVV-WP-------------------I | 286 |
SCN9A | QSVKKLSDVMILTVFCLSVFALIGLQLFMG>N<LKHKCFR-NS-------------------L | 280 |
SCN10A | HSVKKLADVTILTIFCLSVFALVGLQLFKG>N<LKNKCVK-N-------------------DM | 281 |
SCN11A | RSVKKLVNVIILTFFCLSIFALVGQQLFMG>S<LNLKCIS-R-------------------DC | 288 |
CACNA1A | KAMIPLLQIGLLLFFAILIFAIIGLEFYMG>K<FHTTCFE-E-GTD------------DI--- | 264 |
CACNA1B | KAMVPLLQIGLLLFFAILMFAIIGLEFYMG>K<FHKACFP-N-STD------------A---- | 260 |
CACNA1C | KAMVPLLHIALLVLFVIIIYAIIGLELFMG>K<MHKTCYNQEGIAD-------------V--- | 307 |
CACNA1D | KAMVPLLHIALLVLFVIIIYAIIGLELFIG>K<MHKTCFF-A-DSD-------------I--- | 308 |
CACNA1E | KAMVPLLQIGLLLFFAILMFAIIGLEFYSG>K<LHRACFM-N-NSG------------IL--- | 259 |
CACNA1F | KALVPLLHIALLVLFVIIIYAIIGLELFLG>R<MHKTCYF-L-GSD-------------M--- | 274 |
CACNA1G | DTLPMLGNVLLLCFFVFFIFGIVGVQLWAG>L<LRNRCFL-P-ENFSLPLSVD-LE-RYYQT- | 261 |
CACNA1H | DTLPMLGNVLLLCFFVFFIFGIVGVQLWAG>L<LRNRCFL-D-SAFVRNNNLTFLR-PYYQT- | 281 |
CACNA1I | DTLPMLGNVLLLCFFVFFIFGIIGVQLWAG>L<LRNRCFL-E-ENFTIQGDVA-LP-PYYQP- | 259 |
CACNA1S | KAMLPLFHIALLVLFMVIIYAIIGLELFKG>K<MHKTCYF-I-GTD-------------I--- | 233 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N275K | c.825C>A | Inherited Arrhythmia | LQTS | rs199473080 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. Heart Rhythm. 2008 5(5):704-9. 18452873 | ||
Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 |