No paralogue variants have been mapped to residue 185 for SCN5A.
SCN5A | --KYVEYTFTA-IYTFESLVKILARGFCLH>A<FTFLRDPWNWLDFSVIIMAYVSENIKLG-- | 213 |
SCN1A | --KNVEYTFTG-IYTFESLIKIIARGFCLE>D<FTFLRDPWNWLDFTVITFAYVTEFVDLG-- | 210 |
SCN2A | --KNVEYTFTG-IYTFESLIKILARGFCLE>D<FTFLRDPWNWLDFTVITFAYVTEFVDLG-- | 211 |
SCN3A | --KNVEYTFTG-IYTFESLIKILARGFCLE>D<FTFLRDPWNWLDFSVIVMAYVTEFVDLG-- | 210 |
SCN4A | --KNVEYTFTG-IYTFESLIKILARGFCVD>D<FTFLRDPWNWLDFSVIMMAYLTEFVDLG-- | 213 |
SCN7A | --PVLENTLLG-IYTFEILVKLFARGVWAG>S<FSFLGDPWNWLDFSVTVFEVIIRYSPLD-- | 200 |
SCN8A | --KNVEYTFTG-IYTFESLVKIIARGFCID>G<FTFLRDPWNWLDFSVIMMAYITEFVNLG-- | 214 |
SCN9A | --KNVEYTFTG-IYTFESLVKILARGFCVG>E<FTFLRDPWNWLDFVVIVFAYLTEFVNLG-- | 208 |
SCN10A | ---KIEYVFTV-IYTFEALIKILARGFCLN>E<FTYLRDPWNWLDFSVITLAYVGTAIDLR-- | 209 |
SCN11A | --DIAECVFTG-IYIFEALIKILARGFILD>E<FSFLRDPWNWLDSIVIGIAIVSYIPGIT-- | 215 |
CACNA1A | RLDDTEPYFIG-IFCFEAGIKIIALGFAFH>K<GSYLRNGWNVMDFVVVLTGILATVGTEF-- | 189 |
CACNA1B | RLDDTEPYFIG-IFCFEAGIKIIALGFVFH>K<GSYLRNGWNVMDFVVVLTGILATAGTDF-- | 186 |
CACNA1C | NLERVEYLFLI-IFTVEAFLKVIAYGLLFH>P<NAYLRNGWNLLDFIIVVVGLFSAILEQATK | 217 |
CACNA1D | NLEKVEYAFLI-IFTVETFLKIIAYGLLLH>P<NAYVRNGWNLLDFVIVIVGLFSVILEQLTK | 219 |
CACNA1E | RLEKTEPYFIG-IFCFEAGIKIVALGFIFH>K<GSYLRNGWNVMDFIVVLSGILATAGTHFN- | 181 |
CACNA1F | NLEQVEYVFLV-IFTVETVLKIVAYGLVLH>P<SAYIRNGWNLLDFIIVVVGLFSVLLEQGPG | 185 |
CACNA1G | RILQAFDDFIFAFFAVEMVVKMVALGI-FG>K<KCYLGDTWNRLDFFIVIAGMLEYSLDLQ-- | 172 |
CACNA1H | NILEAFDAFIFAFFAVEMVIKMVALGL-FG>Q<KCYLGDTWNRLDFFIVVAGMMEYSLDGH-- | 191 |
CACNA1I | KILQVFDDFIFIFFAMEMVLKMVALGI-FG>K<KCYLGDTWNRLDFFIVMAGMVEYSLDLQ-- | 170 |
CACNA1S | GLEKLEYFFLI-VFSIEAAMKIIAYGFLFH>Q<DAYLRSGWNVLDFTIVFLGVFTVILEQVNV | 144 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A185T | c.553G>A | Inherited Arrhythmia | LQTS | rs192113333 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | LQTS | Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland. Ann Med. 2004 36 Suppl 1:53-63. 15176425 | ||
Inherited Arrhythmia | LQTS | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 | |||
p.A185V | c.554C>T | Inherited Arrhythmia | BrS | rs199473067 | SIFT: deleterious Polyphen: benign |
Reports | Inherited Arrhythmia | BrS | 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 |