No paralogue variants have been mapped to residue 1616 for SCN5A.
SCN5A | LSDIIQ----------------------KY>F<FSPTLFRVIRLARIGRILRLIRGAKGIRTL | 1646 |
SCN1A | LAELIE----------------------KY>F<VSPTLFRVIRLARIGRILRLIKGAKGIRTL | 1659 |
SCN2A | LAELIE----------------------KY>F<VSPTLFRVIRLARIGRILRLIKGAKGIRTL | 1649 |
SCN3A | LAEMIE----------------------KY>F<VSPTLFRVIRLARIGRILRLIKGAKGIRTL | 1644 |
SCN4A | LSDLIQ----------------------KY>F<VSPTLFRVIRLARIGRVLRLIRGAKGIRTL | 1471 |
SCN7A | LPMTVG----------------------SY>L<VPPSLVQLILLSRIIHMLRLGKGPKVFHNL | 1369 |
SCN8A | LADIIE----------------------KY>F<VSPTLFRVIRLARIGRILRLIKGAKGIRTL | 1640 |
SCN9A | LADLIE----------------------TY>F<VSPTLFRVIRLARIGRILRLVKGAKGIRTL | 1622 |
SCN10A | FSAILKS--------------------LQS>Y<FSPTLFRVIRLARIGRILRLIRAAKGIRTL | 1596 |
SCN11A | ISTLENQ--------------------EHI>P<FPPTLFRIVRLARIGRILRLVRAARGIRTL | 1486 |
CACNA1A | VTEFGNN----------------------->F<INLSFLRLFRA---ARLIKLLRQGYTIRIL | 1681 |
CACNA1B | VTEIAET---------------------NN>F<INLSFLRLFRA---ARLIKLLRQGYTIRIL | 1589 |
CACNA1C | ITEVNPAE----HTQ----CSPSMNAEENS>R<ISITFFRLFRV---MRLVKLLSRGEGIRTL | 1349 |
CACNA1D | LSEADPTE----SENVPVPTATPGNSEESN>R<ISITFFRLFRV---MRLVKLLSRGEGIRTL | 1359 |
CACNA1E | LTDSKLV--------------------NTS>G<FNMSFLKLFRA---ARLIKLLRQGYTIRIL | 1596 |
CACNA1F | VTEVNNGG----HLG----E----SSEDSS>R<ISITFFRLFRV---MRLVKLLSKGEGIRTL | 1316 |
CACNA1G | LEEIEVN--------------------ASL>P<INPTIIRIMRVLRIARVLKLLKMAVGMRAL | 1732 |
CACNA1H | LEEIEMS--------------------AAL>P<INPTIIRIMRVLRIARVLKLLKMATGMRAL | 1738 |
CACNA1I | LEEIEIN--------------------AAL>P<INPTIIRIMRVLRIARVLKLLKMATGMRAL | 1608 |
CACNA1S | LSEIDTFLASSGGLYCLGGGCGNVDPDESA>R<ISSAFFRLFRV---MRLIKLLSRAEGVRTL | 1256 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F1616Y | c.4847T>A | Other Cardiac Phenotype | SIFT: Polyphen: | ||
Reports | Other 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 |