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

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	A98P	Dravet syndrome C ?	Medium	6	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.

SCN5A	QELIGEPLEDLDPFYSTQK-TFI-VLNKGK>T<IFRFSATNALYVLSPFHPIRRAAVKILVHS	131
SCN1A	PEMVSEPLEDLDPYYINKK-TFI-VLNKGK>A<IFRFSATSALYILTPFNPLRKIAIKILVHS	128
SCN2A	PEMVSVPLEDLDPYYINKK-TFI-VLNKGK>A<ISRFSATPALYILTPFNPIRKLAIKILVHS	129
SCN3A	PEMVSEPLEDLDPYYINKK-TFI-VMNKGK>A<IFRFSATSALYILTPLNPVRKIAIKILVHS	128
SCN4A	PEVIGIPLEDLDPYYSNKK-TFI-VLNKGK>A<IFRFSATPALYLLSPFSVVRRGAIKVLIHA	131
SCN7A	QGMVSEPLEDVDPYYYKKKNTFI-VLNKNR>T<IFRFNAASILCTLSPFNCIRRTTIKVLVHP	118
SCN8A	QGLVAVPLEDFDPYYLTQK-TFV-VLNRGK>T<LFRFSATPALYILSPFNLIRRIAIKILIHS	132
SCN9A	PGMVSEPLEDLDPYYADKK-TFI-VLNKGK>T<IFRFNATPALYMLSPFSPLRRISIKILVHS	126
SCN10A	AELIGEPLEDLDPFYSTHR-TFM-VLNKGR>T<ISRFSATRALWLFSPFNLIRRTAIKVSVHS	130
SCN11A	RELIGKPLEDLDPFYRNHK-TFM-VLNRKR>T<IYRFSAKHALFIFGPFNSIRSLAIRVSVHS	129
CACNA1A	------QRMYKQSMAQRARTMAL-YNPIPV>R<QNCLTVNRSLFLFSEDNVVRKYAKKITEWP	98
CACNA1B	------RVLYKQSIAQRARTMAL-YNPIPV>K<QNCFTVNRSLFVFSEDNVVRKYAKRITEWP	95
CACNA1C	GSAGNATISTVSST-QRKRQQYG-KPKKQG>S<TTATRPPRALLCLTLKNPIRRACISIVEWK	124
CACNA1D	QTMSTSAPPPVGSLSQRKRQQYA-KSKKQG>N<SSNSRPARALFCLSLNNPIRRACISIVEWK	126
CACNA1E	------AAAYKQTKAQRARTMAL-YNPIPV>R<QNCFTVNRSLFIFGEDNIVRKYAKKLIDWP	89
CACNA1F	---EGESSGASGLGTPKRRNQHS-KHKTVA>V<ASAQRSPRALFCLTLANPLRRSCISIVEWK	92
CACNA1G	-----PGSA-------EKDPG-SADSEAEG>L<PYPALAPVVFFYLSQDSRPRSWCLRTVCNP	81
CACNA1H	-----P-AA-------ERGAELG-ADEEQR>V<PYPALAATVFFCLGQTTRPRSWCLRLVCNP	100
CACNA1I	-----SPPG-------LEEPL-D-G-ADPH>V<PHPDLAPIAFFCLRQTTSPRNWCIKMVCNP	79
CACNA1S	------------SSPQDEGLRKK-QPKKPV>P<EILPRPPRALFCLTLENPLRKACISIVEWK	51
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T101I	c.302C>T	Putative Benign			SIFT: Polyphen: