No paralogue variants have been mapped to residue 276 for SCN5A.
SCN5A | SVKKLADVMVLTVFCLSVFALIGLQLFMGN>L<RHKCVR--------------------NFTA | 286 |
SCN1A | SVKKLSDVMILTVFCLSVFALIGLQLFMGN>L<RNKCIQ-WP-PTNASLEEH-SI-EKNITVN | 299 |
SCN2A | SVKKLSDVMILTVFCLSVFALIGLQLFMGN>L<RNKCLQ-WP-PDNSSFEIN-ITSFFNNSLD | 301 |
SCN3A | SVKKLSDVMILTVFCLSVFALIGLQLFMGN>L<RNKCLQ-WP-PSDSAFETN-TTSYFNGTMD | 300 |
SCN4A | SVKKLSDVMILTVFCLSVFALVGLQLFMGN>L<RQKCVR-WP-PPFN--DTN-TTWYSNDTWY | 301 |
SCN7A | CLKQLIGVIILTLFFLSIFSLIGMGLFMGN>L<KHKCFR-WP-QENE---------------- | 275 |
SCN8A | SVKKLSDVMILTVFCLSVFALIGLQLFMGN>L<RNKCVV-WP-------------------IN | 287 |
SCN9A | SVKKLSDVMILTVFCLSVFALIGLQLFMGN>L<KHKCFR-NS-------------------LE | 281 |
SCN10A | SVKKLADVTILTIFCLSVFALVGLQLFKGN>L<KNKCVK-N-------------------DMA | 282 |
SCN11A | SVKKLVNVIILTFFCLSIFALVGQQLFMGS>L<NLKCIS-R-------------------DCK | 289 |
CACNA1A | AMIPLLQIGLLLFFAILIFAIIGLEFYMGK>F<HTTCFE-E-GTD------------DI---- | 264 |
CACNA1B | AMVPLLQIGLLLFFAILMFAIIGLEFYMGK>F<HKACFP-N-STD------------A----- | 260 |
CACNA1C | AMVPLLHIALLVLFVIIIYAIIGLELFMGK>M<HKTCYNQEGIAD-------------V---- | 307 |
CACNA1D | AMVPLLHIALLVLFVIIIYAIIGLELFIGK>M<HKTCFF-A-DSD-------------I---- | 308 |
CACNA1E | AMVPLLQIGLLLFFAILMFAIIGLEFYSGK>L<HRACFM-N-NSG------------IL---- | 259 |
CACNA1F | ALVPLLHIALLVLFVIIIYAIIGLELFLGR>M<HKTCYF-L-GSD-------------M---- | 274 |
CACNA1G | TLPMLGNVLLLCFFVFFIFGIVGVQLWAGL>L<RNRCFL-P-ENFSLPLSVD-LE-RYYQT-E | 262 |
CACNA1H | TLPMLGNVLLLCFFVFFIFGIVGVQLWAGL>L<RNRCFL-D-SAFVRNNNLTFLR-PYYQT-E | 282 |
CACNA1I | TLPMLGNVLLLCFFVFFIFGIIGVQLWAGL>L<RNRCFL-E-ENFTIQGDVA-LP-PYYQP-E | 260 |
CACNA1S | AMLPLFHIALLVLFMVIIYAIIGLELFKGK>M<HKTCYF-I-GTD-------------I---- | 233 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L276Q | c.827T>A | Inherited Arrhythmia | BrS | rs199473081 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | Comparison of long-term follow-up of electrocardiographic features in Brugada syndrome between the SCN5A-positive probands and the SCN5A-negative probands. Am J Cardiol. 2007 100(4):649-55. 17697823 | ||
Inherited Arrhythmia | BrS | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 | |||
p.L276P | c.827T>C | Inherited Arrhythmia | BrS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | BrS | Familial cardiological and targeted genetic evaluation: low yield in sudden unexplained death and high yield in unexplained cardiac arrest syndromes. Heart Rhythm. 2013 10(11):1653-60. doi: 10.1016/j.hrthm.2013.08.022. 23973953 |