No paralogue variants have been mapped to residue 1860 for SCN5A.
| SCN5A | ---SLINMDLPMVSGD-RIHCMDILFAFTK>R<VLGES--G---EMDALKIQMEEKFMA---A | 1882 |
| SCN1A | ---QLIAMDLPMVSGD-RIHCLDILFAFTK>R<VLGES--G---EMDALRIQMEERFMA---S | 1896 |
| SCN2A | ---QLIAMDLPMVSGD-RIHCLDILFAFTK>R<VLGES--G---EMDALRIQMEERFMA---S | 1886 |
| SCN3A | ---QLIAMDLPMVSGD-RIHCLDILFAFTK>R<VLGES--G---EMDALRIQMEDRFMA---S | 1881 |
| SCN4A | ---KLITLDLPMVPGD-KIHCLDILFALTK>E<VLGDS--G---EMDALKQTMEEKFMA---A | 1708 |
| SCN7A | ---QLIALDLPMAVGD-RIHCLDILLAFTK>R<VMGQD--V---RMEKVVSEIESGFLL---A | 1606 |
| SCN8A | ---ELIAMDLPMVSGD-RIHCLDILFAFTK>R<VLGDS--G---ELDILRQQMEERFVA---S | 1876 |
| SCN9A | ---QLIAMDLPMVSGD-RIHCLDILFAFTK>R<VLGES--G---EMDSLRSQMEERFMS---A | 1859 |
| SCN10A | ---ILIQMDLPLVPGD-KIHCLDILFAFTK>N<VLGES--G---ELDSLKANMEEKFMA---T | 1832 |
| SCN11A | ---QFLVMDLPMVSED-RLHCMDILFAFTA>R<VLGGS--D---GLDSMKAMMEEKFME---A | 1714 |
| CACNA1A | ACKRLLRMDLPVADD-NTVHFNSTLMALIR>T<ALDIKIAKGGADKQQMDAELRKEMMAIW-P | 1932 |
| CACNA1B | AYKRLVRMNMPISNEDMTVHFTSTLMALIR>T<ALEIKLAPAGTKQHQCDAELRKEISVVW-A | 1831 |
| CACNA1C | ACKRLVSMNMPLNSDG-TVMFNATLFALVR>T<ALRIKTEG---NLEQANEELRAIIKKIW-K | 1594 |
| CACNA1D | ACKRLVAMNMPLNSDG-TVMFNATLFALVR>T<ALKIKTEG---NLEQANEELRAVIKKIW-K | 1602 |
| CACNA1E | AYKRLVLMNMPVAED-MTVHFTSTLMALIR>T<ALDIKIAKGGADRQQLDSELQKETLAIW-P | 1844 |
| CACNA1F | ACKRLVAMNMPLNSDG-TVTFNATLFALVR>T<SLKIKTEG---NLEQANQELRIVIKKIW-K | 1559 |
| CACNA1G | ---------HPAAHA-RSASHFSLEHPTDR>Q<LFDTI---S--LLIQGSLEWELKLMDEL-A | 1954 |
| CACNA1H | --------DAPN---------------LVA>R<KV----------------SVSRML-SLPND | 1930 |
| CACNA1I | ---GLCRRCYSPAQE-N--LWLDSVSLIIK>D<SL----------------EGELTIIDNL-S | 1825 |
| CACNA1S | ACKRLVGMNMPLNSDG-TVTFNATLFALVR>T<ALKIKTEG---NFEQANEELRAIIKKIW-K | 1499 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R1860S | c.5580G>T | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders. Clin Genet. 2014 85(4):365-70. doi: 10.1111/cge.12168. 23590259 | ||