No paralogue variants have been mapped to residue 1870 for SCN5A.
| SCN5A | D-RIHCMDILFAFTKRVLGES--G---EMD>A<LKIQMEEKFMA---ANP-SKISYEPITTTL | 1896 |
| SCN1A | D-RIHCLDILFAFTKRVLGES--G---EMD>A<LRIQMEERFMA---SNP-SKVSYQPITTTL | 1910 |
| SCN2A | D-RIHCLDILFAFTKRVLGES--G---EMD>A<LRIQMEERFMA---SNP-SKVSYEPITTTL | 1900 |
| SCN3A | D-RIHCLDILFAFTKRVLGES--G---EMD>A<LRIQMEDRFMA---SNP-SKVSYEPITTTL | 1895 |
| SCN4A | D-KIHCLDILFALTKEVLGDS--G---EMD>A<LKQTMEEKFMA---ANP-SKVSYEPITTTL | 1722 |
| SCN7A | D-RIHCLDILLAFTKRVMGQD--V---RME>K<VVSEIESGFLL---ANP-FKITCEPITTTL | 1620 |
| SCN8A | D-RIHCLDILFAFTKRVLGDS--G---ELD>I<LRQQMEERFVA---SNP-SKVSYEPITTTL | 1890 |
| SCN9A | D-RIHCLDILFAFTKRVLGES--G---EMD>S<LRSQMEERFMS---ANP-SKVSYEPITTTL | 1873 |
| SCN10A | D-KIHCLDILFAFTKNVLGES--G---ELD>S<LKANMEEKFMA---TNL-SKSSYEPIATTL | 1846 |
| SCN11A | D-RLHCMDILFAFTARVLGGS--D---GLD>S<MKAMMEEKFME---ANP-LKKLYEPIVTTT | 1728 |
| CACNA1A | -NTVHFNSTLMALIRTALDIKIAKGGADKQ>Q<MDAELRKEMMAIW-PNL-SQKTLDLLVTPH | 1946 |
| CACNA1B | DMTVHFTSTLMALIRTALEIKLAPAGTKQH>Q<CDAELRKEISVVW-ANL-PQKTLDLLVPPH | 1845 |
| CACNA1C | G-TVMFNATLFALVRTALRIKTEG---NLE>Q<ANEELRAIIKKIW-KRT-SMKLLDQVVPPA | 1608 |
| CACNA1D | G-TVMFNATLFALVRTALKIKTEG---NLE>Q<ANEELRAVIKKIW-KKT-SMKLLDQVVPPA | 1616 |
| CACNA1E | -MTVHFTSTLMALIRTALDIKIAKGGADRQ>Q<LDSELQKETLAIW-PHL-SQKMLDLLVPMP | 1858 |
| CACNA1F | G-TVTFNATLFALVRTSLKIKTEG---NLE>Q<ANQELRIVIKKIW-KRM-KQKLLDEVIPPP | 1573 |
| CACNA1G | -RSASHFSLEHPTDRQLFDTI---S--LLI>Q<GSLEWELKLMDEL-AGPGGQPSAFPSAPSL | 1969 |
| CACNA1H | ------------LVARKV------------>-<---SVSRML-SLPNDSYM----FRPVVPAS | 1941 |
| CACNA1I | -N--LWLDSVSLIIKDSL------------>-<---EGELTIIDNL-SGSI----FHHYSSPA | 1836 |
| CACNA1S | G-TVTFNATLFALVRTALKIKTEG---NFE>Q<ANEELRAIIKKIW-KRT-SMKLLDQVIPPI | 1513 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A1870T | c.5608G>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | ||
| p.A1870D | c.5609C>A | Unknown | SIFT: deleterious Polyphen: probably damaging | ||
| p.Ala1870Asp | c.5609C>A | Unknown | SIFT: Polyphen: | ||