Paralogue Annotation for SCN5A residue 281

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 281
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 281

No paralogue variants have been mapped to residue 281 for SCN5A.



SCN5AADVMVLTVFCLSVFALIGLQLFMGNLRHKC>V<R--------------------NFTALN---288
SCN1ASDVMILTVFCLSVFALIGLQLFMGNLRNKC>I<Q-WP-PTNASLEEH-SI-EKNITVNYN---301
SCN2ASDVMILTVFCLSVFALIGLQLFMGNLRNKC>L<Q-WP-PDNSSFEIN-ITSFFNNSLDGN---303
SCN3ASDVMILTVFCLSVFALIGLQLFMGNLRNKC>L<Q-WP-PSDSAFETN-TTSYFNGTMDSN---302
SCN4ASDVMILTVFCLSVFALVGLQLFMGNLRQKC>V<R-WP-PPFN--DTN-TTWYSNDTWYGN---303
SCN7AIGVIILTLFFLSIFSLIGMGLFMGNLKHKC>F<R-WP-QENE-----------------N---276
SCN8ASDVMILTVFCLSVFALIGLQLFMGNLRNKC>V<V-WP-------------------INFN---289
SCN9ASDVMILTVFCLSVFALIGLQLFMGNLKHKC>F<R-NS-------------------LENN---283
SCN10AADVTILTIFCLSVFALVGLQLFKGNLKNKC>V<K-N-------------------DMAVN---284
SCN11AVNVIILTFFCLSIFALVGQQLFMGSLNLKC>I<S-R-------------------DCK-N---290
CACNA1ALQIGLLLFFAILIFAIIGLEFYMGKFHTTC>F<E-E-GTD------------DI-----Q---265
CACNA1BLQIGLLLFFAILMFAIIGLEFYMGKFHKAC>F<P-N-STD------------A------E---261
CACNA1CLHIALLVLFVIIIYAIIGLELFMGKMHKTC>Y<NQEGIAD-------------V----PA---309
CACNA1DLHIALLVLFVIIIYAIIGLELFIGKMHKTC>F<F-A-DSD-------------I----VA---310
CACNA1ELQIGLLLFFAILMFAIIGLEFYSGKLHRAC>F<M-N-NSG------------IL----EG---261
CACNA1FLHIALLVLFVIIIYAIIGLELFLGRMHKTC>Y<F-L-GSD-------------M----EA---276
CACNA1GGNVLLLCFFVFFIFGIVGVQLWAGLLRNRC>F<L-P-ENFSLPLSVD-LE-RYYQT-ENE---264
CACNA1HGNVLLLCFFVFFIFGIVGVQLWAGLLRNRC>F<L-D-SAFVRNNNLTFLR-PYYQT-EEG---284
CACNA1IGNVLLLCFFVFFIFGIIGVQLWAGLLRNRC>F<L-E-ENFTIQGDVA-LP-PYYQP-EED---262
CACNA1SFHIALLVLFMVIIYAIIGLELFKGKMHKTC>Y<F-I-GTD-------------I----VATVE238
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V281Mc.841G>A Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS 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