Paralogue Annotation for SCN5A residue 1520

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1520
Reference Amino Acid: F - Phenylalanine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to SCN5A residue 1520

No paralogue variants have been mapped to residue 1520 for SCN5A.



SCN5A---G-SKKP--------QKPIPRPLNKYQG>F<IFDIVTKQAFDVTIMFLICLNMVTMMVETD1550
SCN1A---G-SKKP--------QKPIPRPGNKFQG>M<VFDFVTRQVFDISIMILICLNMVTMMVETD1563
SCN2A---G-SKKP--------QKPIPRPANKFQG>M<VFDFVTKQVFDISIMILICLNMVTMMVETD1553
SCN3A---G-SKKP--------QKPIPRPANKFQG>M<VFDFVTRQVFDISIMILICLNMVTMMVETD1548
SCN4A---G-SKKP--------QKPIPRPQNKIQG>M<VYDLVTKQAFDITIMILICLNMVTMMVETD1375
SCN7A---M-YEDS--------QRPVPRPLNKLQG>F<IFDVVTSQAFNVIVMVLICFQAIAMMIDTD1273
SCN8A---G-SKKP--------QKPIPRPLNKIQG>I<VFDFVTQQAFDIVIMMLICLNMVTMMVETD1544
SCN9A---G-SKKP--------QKPIPRPGNKIQG>C<IFDLVTNQAFDISIMVLICLNMVTMMVEKE1526
SCN10A---G-SKKP--------QKPIPRPLNKFQG>F<VFDIVTRQAFDITIMVLICLNMITMMVETD1498
SCN11A---G-SKKP--------QKPIPRPLNKCQG>L<VFDIVTSQIFDIIIISLIILNMISMMAESY1388
CACNA1A-----SAKP-------LTRHMPQNKQSFQY>R<MWQFVVSPPFEYTIMAMIALNTIVLMMKFY1588
CACNA1B-----SAKP-------LTRYMPQNRQSFQY>K<TWTFVVSPPFEYFIMAMIALNTVVLMMKFY1494
CACNA1C-----KARP-------LRRYIPK--NQHQY>K<VWYVVNSTYFEYLMFVLILLNTICLAMQHY1241
CACNA1D-----KARP-------LRRYIPK--NPYQY>K<FWYVVNSSPFEYMMFVLIMLNTLCLAMQHY1247
CACNA1E-----SAKP-------LTRYMPQNRHTFQY>R<VWHFVVSPSFEYTIMAMIALNTVVLMMKYY1500
CACNA1F-----KAQP-------LRRYIPK--NPHQY>R<VWATVNSAAFEYLMFLLILLNTVALAMQHY1212
CACNA1G----ASGSSASAASEAQCKPYYSDYSRFRL>L<VHHLCTSHYLDLFITGVIGLNVVTMAMEHY1633
CACNA1HTFPSPEAQ---------RRPYYADYSPTRR>S<IHSLCTSHYLDLFITFIICVNVITMSMEHY1639
CACNA1I-----KAQ---------RLPYYATYCHTRL>L<IHSMCTSHYLDIFITFIICLNVVTMSLEHY1509
CACNA1S-----KARP-------LRCYIPK--NPYQY>Q<VWYIVTSSYFEYLMFALIMLNTICLGMQHY1140
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F1520Lc.4560C>G CardiomyopathyDCMrs199473642SIFT: tolerated
Polyphen: benign
ReportsCardiomyopathyDCM SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism. J Am Coll Cardiol. 2011 57(21):2160-8. 21596231