Paralogue Annotation for SCN5A residue 1887

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1887
Reference Amino Acid: I - Isoleucine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1887

No paralogue variants have been mapped to residue 1887 for SCN5A.



SCN5A--G---EMDALKIQMEEKFMA---ANP-SK>I<SYEPITTTLRRKHEEVS----AMVIQRAF-1912
SCN1A--G---EMDALRIQMEERFMA---SNP-SK>V<SYQPITTTLKRKQEEVS----AVIIQRAY-1926
SCN2A--G---EMDALRIQMEERFMA---SNP-SK>V<SYEPITTTLKRKQEEVS----AIIIQRAY-1916
SCN3A--G---EMDALRIQMEDRFMA---SNP-SK>V<SYEPITTTLKRKQEEVS----AAIIQRNF-1911
SCN4A--G---EMDALKQTMEEKFMA---ANP-SK>V<SYEPITTTLKRKHEEVC----AIKIQRAY-1738
SCN7A--V---RMEKVVSEIESGFLL---ANP-FK>I<TCEPITTTLKRKQEAVS----ATIIQRAY-1636
SCN8A--G---ELDILRQQMEERFVA---SNP-SK>V<SYEPITTTLRRKQEEVS----AVVLQRAY-1906
SCN9A--G---EMDSLRSQMEERFMS---ANP-SK>V<SYEPITTTLKRKQEDVS----ATVIQRAY-1889
SCN10A--G---ELDSLKANMEEKFMA---TNL-SK>S<SYEPIATTLRWKQEDIS----ATVIQKAY-1862
SCN11A--D---GLDSMKAMMEEKFME---ANP-LK>K<LYEPIVTTTKRKEEERG----AAIIQKAF-1744
CACNA1AIAKGGADKQQMDAELRKEMMAIW-PNL-SQ>K<TLDLLVTPHKSTDLTVGKIYAAMMIMEYY-1966
CACNA1BLAPAGTKQHQCDAELRKEISVVW-ANL-PQ>K<TLDLLVPPHKPDEMTVGKVYAALMIFDFY-1865
CACNA1CTEG---NLEQANEELRAIIKKIW-KRT-SM>K<LLDQVVPPAGDDEVTVGKFYATFLIQEYF-1628
CACNA1DTEG---NLEQANEELRAVIKKIW-KKT-SM>K<LLDQVVPPAGDDEVTVGKFYATFLIQDYF-1636
CACNA1EIAKGGADRQQLDSELQKETLAIW-PHL-SQ>K<MLDLLVPMPKASDLTVGKIYAAMMIMDYY-1878
CACNA1FTEG---NLEQANQELRIVIKKIW-KRM-KQ>K<LLDEVIPPPDEEEVTVGKFYATFLIQDYF-1593
CACNA1G---S--LLIQGSLEWELKLMDEL-AGPGGQ>P<SAFPSAPSLGGSDP-----QIPLAEMEAL-1984
CACNA1H-------------SVSRML-SLPNDSYM-->-<-FRPVVPASAPHPR-----PLQEVEMETYG1957
CACNA1I-------------EGELTIIDNL-SGSI-->-<-FHHYSSPAGCKKCHHDKQEVQLAETEAF-1856
CACNA1STEG---NFEQANEELRAIIKKIW-KRT-SM>K<LLDQVIPPIGDDEVTVGKFYATFLIQEHF-1533
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I1887Fc.5659A>T CardiomyopathyHCMSIFT:
Polyphen:
ReportsCardiomyopathyHCM Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. Gene. 2016 577(2):227-35. doi: 10.1016/j.gene.2015.11.048. 26656175