No paralogue variants have been mapped to residue 1896 for SCN5A.
SCN5A | ALKIQMEEKFMA---ANP-SKISYEPITTT>L<RRKHEEVS----AMVIQRAF-RRHLLQRS- | 1920 |
SCN1A | ALRIQMEERFMA---SNP-SKVSYQPITTT>L<KRKQEEVS----AVIIQRAY-RRHLLKRT- | 1934 |
SCN2A | ALRIQMEERFMA---SNP-SKVSYEPITTT>L<KRKQEEVS----AIIIQRAY-RRYLLKQK- | 1924 |
SCN3A | ALRIQMEDRFMA---SNP-SKVSYEPITTT>L<KRKQEEVS----AAIIQRNF-RCYLLKQR- | 1919 |
SCN4A | ALKQTMEEKFMA---ANP-SKVSYEPITTT>L<KRKHEEVC----AIKIQRAY-RRHLLQRS- | 1746 |
SCN7A | KVVSEIESGFLL---ANP-FKITCEPITTT>L<KRKQEAVS----ATIIQRAY-KNYRLRRN- | 1644 |
SCN8A | ILRQQMEERFVA---SNP-SKVSYEPITTT>L<RRKQEEVS----AVVLQRAY-RGHLARRG- | 1914 |
SCN9A | SLRSQMEERFMS---ANP-SKVSYEPITTT>L<KRKQEDVS----ATVIQRAY-RRYRLRQN- | 1897 |
SCN10A | SLKANMEEKFMA---TNL-SKSSYEPIATT>L<RWKQEDIS----ATVIQKAY-RSYVLHRS- | 1870 |
SCN11A | SMKAMMEEKFME---ANP-LKKLYEPIVTT>T<KRKEEERG----AAIIQKAF-RKYMMKVT- | 1752 |
CACNA1A | QMDAELRKEMMAIW-PNL-SQKTLDLLVTP>H<KSTDLTVGKIYAAMMIMEYY-RQSKAKK-- | 1973 |
CACNA1B | QCDAELRKEISVVW-ANL-PQKTLDLLVPP>H<KPDEMTVGKVYAALMIFDFY-KQNKTTRDQ | 1874 |
CACNA1C | QANEELRAIIKKIW-KRT-SMKLLDQVVPP>A<GDDEVTVGKFYATFLIQEYF-RKFKKRKE- | 1636 |
CACNA1D | QANEELRAVIKKIW-KKT-SMKLLDQVVPP>A<GDDEVTVGKFYATFLIQDYF-RKFKKRKE- | 1644 |
CACNA1E | QLDSELQKETLAIW-PHL-SQKMLDLLVPM>P<KASDLTVGKIYAAMMIMDYY-KQSKVKKQ- | 1886 |
CACNA1F | QANQELRIVIKKIW-KRM-KQKLLDEVIPP>P<DEEEVTVGKFYATFLIQDYF-RKFRRRKE- | 1601 |
CACNA1G | QGSLEWELKLMDEL-AGPGGQPSAFPSAPS>L<GGSDP-----QIPLAEMEAL-SLTSEIVS- | 1992 |
CACNA1H | ----SVSRML-SLPNDSYM----FRPVVPA>S<APHPR-----PLQEVEMETYGAGTPLGSV- | 1965 |
CACNA1I | ----EGELTIIDNL-SGSI----FHHYSSP>A<GCKKCHHDKQEVQLAETEAF-SLNSDRSS- | 1864 |
CACNA1S | QANEELRAIIKKIW-KRT-SMKLLDQVIPP>I<GDDEVTVGKFYATFLIQEHF-RKFMKRQE- | 1541 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1896I | c.5686C>A | Putative Benign | rs61324450 | SIFT: deleterious Polyphen: probably damaging | |
p.L1896V | c.5686C>G | Other Disease Phenotype | SIFT: Polyphen: | ||
Reports | Other Disease Phenotype | Loss-of-function of the voltage-gated sodium channel NaV1.5 (channelopathies) in patients with irritable bowel syndrome. Gastroenterology. 2014 146(7):1659-68. doi: 10.1053/j.gastro.2014.02.054. 24613995 | |||
p.L1896P | c.5687T>C | Putative Benign | SIFT: Polyphen: |