Paralogue Annotation for SCN5A residue 1055

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1055
Reference Amino Acid: D - Aspartate
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1055

No paralogue variants have been mapped to residue 1055 for SCN5A.



SCN5A-------------------PVCVPIAVAES>D<------TDD------------QEED-----1062
SCN1A----------------PSLTVTVPIAVGES>D<------FEN------------LNTE-----1130
SCN2A----------------PSLTVTVPIAVGES>D<------FEN------------LNTE-----1120
SCN3A----------------PSLTVTVPIAVGES>D<------FEN------------LNTE-----1118
SCN4A----------------PYLTIQVPIASEES>D<------LEM------------PTEE-----939
SCN7A----------------PSVSETVPIASGES>D<------IEN------------LDNK-----851
SCN8A----------------PNLTVRVPIAVGES>D<------FEN------------LNTE-----1111
SCN9A----------------PSLTVTVPIAPGES>D<------LEN------------MNAE-----1093
SCN10A----------------PTVWVSVPIAEGES>D<------LDD------------LEDDGGEDA1017
SCN11A-------------------TWLAPLAEEED>D<------VEF------------SGED-----932
CACNA1AAERGKAGDPHRRHVHRQGGSRESRSGSPRT>G<------ADGEHRRHRAHRR--PGEEGP-ED972
CACNA1BSERGR-------GPGPEGGRRHHRRGSPEE>A<------AEREPRRHRAHRH--QDPSKE-CA949
CACNA1C----------GESK---------------->-<---------------EEKIELKSIT-----810
CACNA1D------------------------------>-<---------------------NQIA-----817
CACNA1EVTFED-----------RARHRQSQRRSRHR>R<VRTEGKESSSASRSRSASQERSLDEAM-PT954
CACNA1F------------------------------>-<------------------------------
CACNA1G-----------------SLKRRSPSGERRS>L<------LSG------------EGQESQ-DE1142
CACNA1H-----------------SLKRRGQCGERES>L<------LSG------------EGKGST-DD1177
CACNA1I-----------------------PSAEHES>L<------LSA------------ERGGGARVC1018
CACNA1S------------------------------>-<---------------------EQKP-----709
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D1055Gc.3164A>G Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaBrS 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