No paralogue variants have been mapped to residue 281 for SCN5A.
SCN5A | ADVMVLTVFCLSVFALIGLQLFMGNLRHKC>V<R--------------------NFTALN--- | 288 |
SCN1A | SDVMILTVFCLSVFALIGLQLFMGNLRNKC>I<Q-WP-PTNASLEEH-SI-EKNITVNYN--- | 301 |
SCN2A | SDVMILTVFCLSVFALIGLQLFMGNLRNKC>L<Q-WP-PDNSSFEIN-ITSFFNNSLDGN--- | 303 |
SCN3A | SDVMILTVFCLSVFALIGLQLFMGNLRNKC>L<Q-WP-PSDSAFETN-TTSYFNGTMDSN--- | 302 |
SCN4A | SDVMILTVFCLSVFALVGLQLFMGNLRQKC>V<R-WP-PPFN--DTN-TTWYSNDTWYGN--- | 303 |
SCN7A | IGVIILTLFFLSIFSLIGMGLFMGNLKHKC>F<R-WP-QENE-----------------N--- | 276 |
SCN8A | SDVMILTVFCLSVFALIGLQLFMGNLRNKC>V<V-WP-------------------INFN--- | 289 |
SCN9A | SDVMILTVFCLSVFALIGLQLFMGNLKHKC>F<R-NS-------------------LENN--- | 283 |
SCN10A | ADVTILTIFCLSVFALVGLQLFKGNLKNKC>V<K-N-------------------DMAVN--- | 284 |
SCN11A | VNVIILTFFCLSIFALVGQQLFMGSLNLKC>I<S-R-------------------DCK-N--- | 290 |
CACNA1A | LQIGLLLFFAILIFAIIGLEFYMGKFHTTC>F<E-E-GTD------------DI-----Q--- | 265 |
CACNA1B | LQIGLLLFFAILMFAIIGLEFYMGKFHKAC>F<P-N-STD------------A------E--- | 261 |
CACNA1C | LHIALLVLFVIIIYAIIGLELFMGKMHKTC>Y<NQEGIAD-------------V----PA--- | 309 |
CACNA1D | LHIALLVLFVIIIYAIIGLELFIGKMHKTC>F<F-A-DSD-------------I----VA--- | 310 |
CACNA1E | LQIGLLLFFAILMFAIIGLEFYSGKLHRAC>F<M-N-NSG------------IL----EG--- | 261 |
CACNA1F | LHIALLVLFVIIIYAIIGLELFLGRMHKTC>Y<F-L-GSD-------------M----EA--- | 276 |
CACNA1G | GNVLLLCFFVFFIFGIVGVQLWAGLLRNRC>F<L-P-ENFSLPLSVD-LE-RYYQT-ENE--- | 264 |
CACNA1H | GNVLLLCFFVFFIFGIVGVQLWAGLLRNRC>F<L-D-SAFVRNNNLTFLR-PYYQT-EEG--- | 284 |
CACNA1I | GNVLLLCFFVFFIFGIIGVQLWAGLLRNRC>F<L-E-ENFTIQGDVA-LP-PYYQP-EED--- | 262 |
CACNA1S | FHIALLVLFMVIIYAIIGLELFKGKMHKTC>Y<F-I-GTD-------------I----VATVE | 238 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V281M | c.841G>A | Inherited Arrhythmia | BrS | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | BrS | Low Clinical Penetrance in Causal Mutation Carriers for Cardiac Channelopathies. Rev Esp Cardiol. 2013 66(4):275-281. doi: 10.1016/j.recesp.2012.09.011. 23265794 |