Paralogue Annotation for SCN5A residue 1616

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1616
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1616

No paralogue variants have been mapped to residue 1616 for SCN5A.



SCN5ALSDIIQ----------------------KY>F<FSPTLFRVIRLARIGRILRLIRGAKGIRTL1646
SCN1ALAELIE----------------------KY>F<VSPTLFRVIRLARIGRILRLIKGAKGIRTL1659
SCN2ALAELIE----------------------KY>F<VSPTLFRVIRLARIGRILRLIKGAKGIRTL1649
SCN3ALAEMIE----------------------KY>F<VSPTLFRVIRLARIGRILRLIKGAKGIRTL1644
SCN4ALSDLIQ----------------------KY>F<VSPTLFRVIRLARIGRVLRLIRGAKGIRTL1471
SCN7ALPMTVG----------------------SY>L<VPPSLVQLILLSRIIHMLRLGKGPKVFHNL1369
SCN8ALADIIE----------------------KY>F<VSPTLFRVIRLARIGRILRLIKGAKGIRTL1640
SCN9ALADLIE----------------------TY>F<VSPTLFRVIRLARIGRILRLVKGAKGIRTL1622
SCN10AFSAILKS--------------------LQS>Y<FSPTLFRVIRLARIGRILRLIRAAKGIRTL1596
SCN11AISTLENQ--------------------EHI>P<FPPTLFRIVRLARIGRILRLVRAARGIRTL1486
CACNA1AVTEFGNN----------------------->F<INLSFLRLFRA---ARLIKLLRQGYTIRIL1681
CACNA1BVTEIAET---------------------NN>F<INLSFLRLFRA---ARLIKLLRQGYTIRIL1589
CACNA1CITEVNPAE----HTQ----CSPSMNAEENS>R<ISITFFRLFRV---MRLVKLLSRGEGIRTL1349
CACNA1DLSEADPTE----SENVPVPTATPGNSEESN>R<ISITFFRLFRV---MRLVKLLSRGEGIRTL1359
CACNA1ELTDSKLV--------------------NTS>G<FNMSFLKLFRA---ARLIKLLRQGYTIRIL1596
CACNA1FVTEVNNGG----HLG----E----SSEDSS>R<ISITFFRLFRV---MRLVKLLSKGEGIRTL1316
CACNA1GLEEIEVN--------------------ASL>P<INPTIIRIMRVLRIARVLKLLKMAVGMRAL1732
CACNA1HLEEIEMS--------------------AAL>P<INPTIIRIMRVLRIARVLKLLKMATGMRAL1738
CACNA1ILEEIEIN--------------------AAL>P<INPTIIRIMRVLRIARVLKLLKMATGMRAL1608
CACNA1SLSEIDTFLASSGGLYCLGGGCGNVDPDESA>R<ISSAFFRLFRV---MRLIKLLSRAEGVRTL1256
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F1616Yc.4847T>A Other Cardiac PhenotypeSIFT:
Polyphen:
ReportsOther Cardiac Phenotype Genetic Variation of SCN5A in Korean Patients with Sick Sinus Syndrome. Korean Circ J. 2016 46(1):63-71. doi: 10.4070/kcj.2016.46.1.63. 26798387