No paralogue variants have been mapped to residue 1861 for SCN5A.
SCN5A | --SLINMDLPMVSGD-RIHCMDILFAFTKR>V<LGES--G---EMDALKIQMEEKFMA---AN | 1883 |
SCN1A | --QLIAMDLPMVSGD-RIHCLDILFAFTKR>V<LGES--G---EMDALRIQMEERFMA---SN | 1897 |
SCN2A | --QLIAMDLPMVSGD-RIHCLDILFAFTKR>V<LGES--G---EMDALRIQMEERFMA---SN | 1887 |
SCN3A | --QLIAMDLPMVSGD-RIHCLDILFAFTKR>V<LGES--G---EMDALRIQMEDRFMA---SN | 1882 |
SCN4A | --KLITLDLPMVPGD-KIHCLDILFALTKE>V<LGDS--G---EMDALKQTMEEKFMA---AN | 1709 |
SCN7A | --QLIALDLPMAVGD-RIHCLDILLAFTKR>V<MGQD--V---RMEKVVSEIESGFLL---AN | 1607 |
SCN8A | --ELIAMDLPMVSGD-RIHCLDILFAFTKR>V<LGDS--G---ELDILRQQMEERFVA---SN | 1877 |
SCN9A | --QLIAMDLPMVSGD-RIHCLDILFAFTKR>V<LGES--G---EMDSLRSQMEERFMS---AN | 1860 |
SCN10A | --ILIQMDLPLVPGD-KIHCLDILFAFTKN>V<LGES--G---ELDSLKANMEEKFMA---TN | 1833 |
SCN11A | --QFLVMDLPMVSED-RLHCMDILFAFTAR>V<LGGS--D---GLDSMKAMMEEKFME---AN | 1715 |
CACNA1A | CKRLLRMDLPVADD-NTVHFNSTLMALIRT>A<LDIKIAKGGADKQQMDAELRKEMMAIW-PN | 1933 |
CACNA1B | YKRLVRMNMPISNEDMTVHFTSTLMALIRT>A<LEIKLAPAGTKQHQCDAELRKEISVVW-AN | 1832 |
CACNA1C | CKRLVSMNMPLNSDG-TVMFNATLFALVRT>A<LRIKTEG---NLEQANEELRAIIKKIW-KR | 1595 |
CACNA1D | CKRLVAMNMPLNSDG-TVMFNATLFALVRT>A<LKIKTEG---NLEQANEELRAVIKKIW-KK | 1603 |
CACNA1E | YKRLVLMNMPVAED-MTVHFTSTLMALIRT>A<LDIKIAKGGADRQQLDSELQKETLAIW-PH | 1845 |
CACNA1F | CKRLVAMNMPLNSDG-TVTFNATLFALVRT>S<LKIKTEG---NLEQANQELRIVIKKIW-KR | 1560 |
CACNA1G | --------HPAAHA-RSASHFSLEHPTDRQ>L<FDTI---S--LLIQGSLEWELKLMDEL-AG | 1955 |
CACNA1H | -------DAPN---------------LVAR>K<V----------------SVSRML-SLPNDS | 1931 |
CACNA1I | --GLCRRCYSPAQE-N--LWLDSVSLIIKD>S<L----------------EGELTIIDNL-SG | 1826 |
CACNA1S | CKRLVGMNMPLNSDG-TVTFNATLFALVRT>A<LKIKTEG---NFEQANEELRAIIKKIW-KR | 1500 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1861I | c.5581G>A | Inherited Arrhythmia | BrS | rs199473636 | SIFT: deleterious Polyphen: possibly damaging |
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 |