No paralogue variants have been mapped to residue 278 for SCN5A.
SCN5A | KKLADVMVLTVFCLSVFALIGLQLFMGNLR>H<KCVR--------------------NFTALN | 288 |
SCN1A | KKLSDVMILTVFCLSVFALIGLQLFMGNLR>N<KCIQ-WP-PTNASLEEH-SI-EKNITVNYN | 301 |
SCN2A | KKLSDVMILTVFCLSVFALIGLQLFMGNLR>N<KCLQ-WP-PDNSSFEIN-ITSFFNNSLDGN | 303 |
SCN3A | KKLSDVMILTVFCLSVFALIGLQLFMGNLR>N<KCLQ-WP-PSDSAFETN-TTSYFNGTMDSN | 302 |
SCN4A | KKLSDVMILTVFCLSVFALVGLQLFMGNLR>Q<KCVR-WP-PPFN--DTN-TTWYSNDTWYGN | 303 |
SCN7A | KQLIGVIILTLFFLSIFSLIGMGLFMGNLK>H<KCFR-WP-QENE-----------------N | 276 |
SCN8A | KKLSDVMILTVFCLSVFALIGLQLFMGNLR>N<KCVV-WP-------------------INFN | 289 |
SCN9A | KKLSDVMILTVFCLSVFALIGLQLFMGNLK>H<KCFR-NS-------------------LENN | 283 |
SCN10A | KKLADVTILTIFCLSVFALVGLQLFKGNLK>N<KCVK-N-------------------DMAVN | 284 |
SCN11A | KKLVNVIILTFFCLSIFALVGQQLFMGSLN>L<KCIS-R-------------------DCK-N | 290 |
CACNA1A | IPLLQIGLLLFFAILIFAIIGLEFYMGKFH>T<TCFE-E-GTD------------DI-----Q | 265 |
CACNA1B | VPLLQIGLLLFFAILMFAIIGLEFYMGKFH>K<ACFP-N-STD------------A------E | 261 |
CACNA1C | VPLLHIALLVLFVIIIYAIIGLELFMGKMH>K<TCYNQEGIAD-------------V----PA | 309 |
CACNA1D | VPLLHIALLVLFVIIIYAIIGLELFIGKMH>K<TCFF-A-DSD-------------I----VA | 310 |
CACNA1E | VPLLQIGLLLFFAILMFAIIGLEFYSGKLH>R<ACFM-N-NSG------------IL----EG | 261 |
CACNA1F | VPLLHIALLVLFVIIIYAIIGLELFLGRMH>K<TCYF-L-GSD-------------M----EA | 276 |
CACNA1G | PMLGNVLLLCFFVFFIFGIVGVQLWAGLLR>N<RCFL-P-ENFSLPLSVD-LE-RYYQT-ENE | 264 |
CACNA1H | PMLGNVLLLCFFVFFIFGIVGVQLWAGLLR>N<RCFL-D-SAFVRNNNLTFLR-PYYQT-EEG | 284 |
CACNA1I | PMLGNVLLLCFFVFFIFGIIGVQLWAGLLR>N<RCFL-E-ENFTIQGDVA-LP-PYYQP-EED | 262 |
CACNA1S | LPLFHIALLVLFMVIIYAIIGLELFKGKMH>K<TCYF-I-GTD-------------I----VA | 235 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H278D | c.832C>G | Inherited Arrhythmia | BrS | rs199473562 | SIFT: deleterious Polyphen: possibly damaging |
Reports | 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 |