Paralogue Annotation for SCN5A residue 1896

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1896
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1896

No paralogue variants have been mapped to residue 1896 for SCN5A.



SCN5AALKIQMEEKFMA---ANP-SKISYEPITTT>L<RRKHEEVS----AMVIQRAF-RRHLLQRS-1920
SCN1AALRIQMEERFMA---SNP-SKVSYQPITTT>L<KRKQEEVS----AVIIQRAY-RRHLLKRT-1934
SCN2AALRIQMEERFMA---SNP-SKVSYEPITTT>L<KRKQEEVS----AIIIQRAY-RRYLLKQK-1924
SCN3AALRIQMEDRFMA---SNP-SKVSYEPITTT>L<KRKQEEVS----AAIIQRNF-RCYLLKQR-1919
SCN4AALKQTMEEKFMA---ANP-SKVSYEPITTT>L<KRKHEEVC----AIKIQRAY-RRHLLQRS-1746
SCN7AKVVSEIESGFLL---ANP-FKITCEPITTT>L<KRKQEAVS----ATIIQRAY-KNYRLRRN-1644
SCN8AILRQQMEERFVA---SNP-SKVSYEPITTT>L<RRKQEEVS----AVVLQRAY-RGHLARRG-1914
SCN9ASLRSQMEERFMS---ANP-SKVSYEPITTT>L<KRKQEDVS----ATVIQRAY-RRYRLRQN-1897
SCN10ASLKANMEEKFMA---TNL-SKSSYEPIATT>L<RWKQEDIS----ATVIQKAY-RSYVLHRS-1870
SCN11ASMKAMMEEKFME---ANP-LKKLYEPIVTT>T<KRKEEERG----AAIIQKAF-RKYMMKVT-1752
CACNA1AQMDAELRKEMMAIW-PNL-SQKTLDLLVTP>H<KSTDLTVGKIYAAMMIMEYY-RQSKAKK--1973
CACNA1BQCDAELRKEISVVW-ANL-PQKTLDLLVPP>H<KPDEMTVGKVYAALMIFDFY-KQNKTTRDQ1874
CACNA1CQANEELRAIIKKIW-KRT-SMKLLDQVVPP>A<GDDEVTVGKFYATFLIQEYF-RKFKKRKE-1636
CACNA1DQANEELRAVIKKIW-KKT-SMKLLDQVVPP>A<GDDEVTVGKFYATFLIQDYF-RKFKKRKE-1644
CACNA1EQLDSELQKETLAIW-PHL-SQKMLDLLVPM>P<KASDLTVGKIYAAMMIMDYY-KQSKVKKQ-1886
CACNA1FQANQELRIVIKKIW-KRM-KQKLLDEVIPP>P<DEEEVTVGKFYATFLIQDYF-RKFRRRKE-1601
CACNA1GQGSLEWELKLMDEL-AGPGGQPSAFPSAPS>L<GGSDP-----QIPLAEMEAL-SLTSEIVS-1992
CACNA1H----SVSRML-SLPNDSYM----FRPVVPA>S<APHPR-----PLQEVEMETYGAGTPLGSV-1965
CACNA1I----EGELTIIDNL-SGSI----FHHYSSP>A<GCKKCHHDKQEVQLAETEAF-SLNSDRSS-1864
CACNA1SQANEELRAIIKKIW-KRT-SMKLLDQVIPP>I<GDDEVTVGKFYATFLIQEHF-RKFMKRQE-1541
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L1896Ic.5686C>A Putative BenignSIFT: deleterious
Polyphen: probably damaging
p.L1896Vc.5686C>G Other Disease PhenotypeSIFT:
Polyphen:
ReportsOther 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.L1896Pc.5687T>C Putative BenignSIFT:
Polyphen: