Paralogue Annotation for SCN5A residue 101

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 101
Reference Amino Acid: T - Threonine
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 101

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AA98PDravet syndrome C ?Medium6 21248271

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.



SCN5AQELIGEPLEDLDPFYSTQK-TFI-VLNKGK>T<IFRFSATNALYVLSPFHPIRRAAVKILVHS131
SCN1APEMVSEPLEDLDPYYINKK-TFI-VLNKGK>A<IFRFSATSALYILTPFNPLRKIAIKILVHS128
SCN2APEMVSVPLEDLDPYYINKK-TFI-VLNKGK>A<ISRFSATPALYILTPFNPIRKLAIKILVHS129
SCN3APEMVSEPLEDLDPYYINKK-TFI-VMNKGK>A<IFRFSATSALYILTPLNPVRKIAIKILVHS128
SCN4APEVIGIPLEDLDPYYSNKK-TFI-VLNKGK>A<IFRFSATPALYLLSPFSVVRRGAIKVLIHA131
SCN7AQGMVSEPLEDVDPYYYKKKNTFI-VLNKNR>T<IFRFNAASILCTLSPFNCIRRTTIKVLVHP118
SCN8AQGLVAVPLEDFDPYYLTQK-TFV-VLNRGK>T<LFRFSATPALYILSPFNLIRRIAIKILIHS132
SCN9APGMVSEPLEDLDPYYADKK-TFI-VLNKGK>T<IFRFNATPALYMLSPFSPLRRISIKILVHS126
SCN10AAELIGEPLEDLDPFYSTHR-TFM-VLNKGR>T<ISRFSATRALWLFSPFNLIRRTAIKVSVHS130
SCN11ARELIGKPLEDLDPFYRNHK-TFM-VLNRKR>T<IYRFSAKHALFIFGPFNSIRSLAIRVSVHS129
CACNA1A------QRMYKQSMAQRARTMAL-YNPIPV>R<QNCLTVNRSLFLFSEDNVVRKYAKKITEWP98
CACNA1B------RVLYKQSIAQRARTMAL-YNPIPV>K<QNCFTVNRSLFVFSEDNVVRKYAKRITEWP95
CACNA1CGSAGNATISTVSST-QRKRQQYG-KPKKQG>S<TTATRPPRALLCLTLKNPIRRACISIVEWK124
CACNA1DQTMSTSAPPPVGSLSQRKRQQYA-KSKKQG>N<SSNSRPARALFCLSLNNPIRRACISIVEWK126
CACNA1E------AAAYKQTKAQRARTMAL-YNPIPV>R<QNCFTVNRSLFIFGEDNIVRKYAKKLIDWP89
CACNA1F---EGESSGASGLGTPKRRNQHS-KHKTVA>V<ASAQRSPRALFCLTLANPLRRSCISIVEWK92
CACNA1G-----PGSA-------EKDPG-SADSEAEG>L<PYPALAPVVFFYLSQDSRPRSWCLRTVCNP81
CACNA1H-----P-AA-------ERGAELG-ADEEQR>V<PYPALAATVFFCLGQTTRPRSWCLRLVCNP100
CACNA1I-----SPPG-------LEEPL-D-G-ADPH>V<PHPDLAPIAFFCLRQTTSPRNWCIKMVCNP79
CACNA1S------------SSPQDEGLRKK-QPKKPV>P<EILPRPPRALFCLTLENPLRKACISIVEWK51
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T101Ic.302C>T Putative BenignSIFT:
Polyphen: