Paralogue Annotation for SCN5A residue 974

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 974
Reference Amino Acid: K - Lysine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 974

No paralogue variants have been mapped to residue 974 for SCN5A.



SCN5ALTAP-DEDREM-NNLQL-ALARIQRGLRFV>K<------------------------------974
SCN1ALAAT-DDDNEM-NNLQI-AVDRMHKGVAYV>K<------------------------------1027
SCN2ALAAT-DDDNEM-NNLQI-AVGRMQKGIDFV>K<------------------------------1018
SCN3ALAAT-DDDNEM-NNLQI-AVGRMQKGIDYV>K<------------------------------1019
SCN4ALAAS-DEDGEM-NNLQI-AIGRIKLGIGFA>K<------------------------------837
SCN7ADVTA-EENNEA-KNLQL-AVARIKKGINYV>L<------------------------------763
SCN8ALAAT-DDDGEM-NNLQI-SVIRIKKGVAWT>K<------------------------------1012
SCN9ALTAI-EEDPDA-NNLQI-AVTRIKKGINYV>K<------------------------------992
SCN10ALTAP-EDDGEV-NNLQV-ALARIQV---FG>H<------------------------------922
SCN11ARNGNLEGEARK-TKVQL-ALDRFRRAFCFV>R<------------------------------847
CACNA1ALTKDEQEEEEA-ANQKL-ALQKAKEVAEVS>P<LSAANMS--------------IAVKEQQKN767
CACNA1BLTKDEEEMEEA-ANQKL-ALQKAKEVAEVS>P<MSAANIS--------------IAA--RQQN761
CACNA1CLTSAQKEEEEE-KERKK-LART---AS--->-<-----------------------------P784
CACNA1DLNTAQKEEAEE-KERKK-IARK---ES--->-<-----------------------------L803
CACNA1ELTKDEQEEEEA-FNQKH-ALQKAKEVSPMS>A<PNMPSIERDRRRRHHMSMWEPRSSHLRERR770
CACNA1F-GTAKDKGGEK-SNEKDLPQEN---EG--->-<-----------------------------L789
CACNA1GISKREDASGQL-SCIQL-PVDSQGGDANKS>-<-----------ESE---------------P1003
CACNA1HDANRSDTDEDKTSVHFEEDFHKL------->-<------------------------------1045
CACNA1IAN-RSYSDEDQSSSNIE-EFDKLQE----->-<------------------------------893
CACNA1SLTSAQKAKAEE-KKRRK-MSKGLPDKS--->-<-----------------------------E695
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K974Nc.2922G>T Inherited ArrhythmiaBrSSIFT:
Polyphen:
ReportsInherited ArrhythmiaBrS Genetic diversity of SCN5A gene and its possible association with the concealed form of Brugada syndrome development in Polish group of patients. Biomed Res Int. 2014 2014:462609. doi: 10.1155/2014/462609. 25401102