No paralogue variants have been mapped to residue 1897 for SCN5A.
SCN5A | LKIQMEEKFMA---ANP-SKISYEPITTTL>R<RKHEEVS----AMVIQRAF-RRHLLQRS-- | 1920 |
SCN1A | LRIQMEERFMA---SNP-SKVSYQPITTTL>K<RKQEEVS----AVIIQRAY-RRHLLKRT-- | 1934 |
SCN2A | LRIQMEERFMA---SNP-SKVSYEPITTTL>K<RKQEEVS----AIIIQRAY-RRYLLKQK-- | 1924 |
SCN3A | LRIQMEDRFMA---SNP-SKVSYEPITTTL>K<RKQEEVS----AAIIQRNF-RCYLLKQR-- | 1919 |
SCN4A | LKQTMEEKFMA---ANP-SKVSYEPITTTL>K<RKHEEVC----AIKIQRAY-RRHLLQRS-- | 1746 |
SCN7A | VVSEIESGFLL---ANP-FKITCEPITTTL>K<RKQEAVS----ATIIQRAY-KNYRLRRN-- | 1644 |
SCN8A | LRQQMEERFVA---SNP-SKVSYEPITTTL>R<RKQEEVS----AVVLQRAY-RGHLARRG-- | 1914 |
SCN9A | LRSQMEERFMS---ANP-SKVSYEPITTTL>K<RKQEDVS----ATVIQRAY-RRYRLRQN-- | 1897 |
SCN10A | LKANMEEKFMA---TNL-SKSSYEPIATTL>R<WKQEDIS----ATVIQKAY-RSYVLHRS-- | 1870 |
SCN11A | MKAMMEEKFME---ANP-LKKLYEPIVTTT>K<RKEEERG----AAIIQKAF-RKYMMKVT-- | 1752 |
CACNA1A | MDAELRKEMMAIW-PNL-SQKTLDLLVTPH>K<STDLTVGKIYAAMMIMEYY-RQSKAKK--L | 1974 |
CACNA1B | CDAELRKEISVVW-ANL-PQKTLDLLVPPH>K<PDEMTVGKVYAALMIFDFY-KQNKTTRDQM | 1875 |
CACNA1C | ANEELRAIIKKIW-KRT-SMKLLDQVVPPA>G<DDEVTVGKFYATFLIQEYF-RKFKKRKE-- | 1636 |
CACNA1D | ANEELRAVIKKIW-KKT-SMKLLDQVVPPA>G<DDEVTVGKFYATFLIQDYF-RKFKKRKE-- | 1644 |
CACNA1E | LDSELQKETLAIW-PHL-SQKMLDLLVPMP>K<ASDLTVGKIYAAMMIMDYY-KQSKVKKQ-- | 1886 |
CACNA1F | ANQELRIVIKKIW-KRM-KQKLLDEVIPPP>D<EEEVTVGKFYATFLIQDYF-RKFRRRKE-- | 1601 |
CACNA1G | GSLEWELKLMDEL-AGPGGQPSAFPSAPSL>G<GSDP-----QIPLAEMEAL-SLTSEIVS-- | 1992 |
CACNA1H | ---SVSRML-SLPNDSYM----FRPVVPAS>A<PHPR-----PLQEVEMETYGAGTPLGSV-- | 1965 |
CACNA1I | ---EGELTIIDNL-SGSI----FHHYSSPA>G<CKKCHHDKQEVQLAETEAF-SLNSDRSS-- | 1864 |
CACNA1S | ANEELRAIIKKIW-KRT-SMKLLDQVIPPI>G<DDEVTVGKFYATFLIQEHF-RKFMKRQE-- | 1541 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1897W | c.5689C>T | Inherited Arrhythmia | LQTS,AF | rs45465995 | SIFT: tolerated Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
Inherited Arrhythmia | LQTS | A map of human genome variation from population-scale sequencing. Nature. 2010 467(7319):1061-73. 20981092 | |||
Inherited Arrhythmia | AF | High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation. Circ Cardiovasc Genet. 2012 5(4):450-9. doi: 10.1161/CIRCGENETICS.111.962597. 22685113 | |||
Inherited Arrhythmia | LQTS | An informatics approach to analyzing the incidentalome. Genet Med. 2013 15(1):36-44. doi: 10.1038/gim.2012.112. 22995991 | |||
Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
Inherited Arrhythmia | LQTS | Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. Eur Heart J. 2015 36(37):2523-9. doi: 10.1093/eurheartj/ehv297. 26159999 | |||
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.R1897Q | c.5690G>A | Putative Benign | SIFT: Polyphen: |