Paralogue Annotation for SCN5A residue 166

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 166
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 166

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	G163E	Dravet syndrome	Medium	7	18076640

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	CVFMAQH------D-PPPWT--KYVEYTFT>A<-IYTFESLVKILARGFCLHAFTFLRDPWNW	195
SCN1A	CVFMTMS------N-PPDWT--KNVEYTFT>G<-IYTFESLIKIIARGFCLEDFTFLRDPWNW	192
SCN2A	CVFMTMS------N-PPDWT--KNVEYTFT>G<-IYTFESLIKILARGFCLEDFTFLRDPWNW	193
SCN3A	CVFMTLS------N-PPDWT--KNVEYTFT>G<-IYTFESLIKILARGFCLEDFTFLRDPWNW	192
SCN4A	CVFMTMS------D-PPPWS--KNVEYTFT>G<-IYTFESLIKILARGFCVDDFTFLRDPWNW	195
SCN7A	CVFMSLT------N-LPKWR--PVLENTLL>G<-IYTFEILVKLFARGVWAGSFSFLGDPWNW	182
SCN8A	CVFMTFS------N-PPDWS--KNVEYTFT>G<-IYTFESLVKIIARGFCIDGFTFLRDPWNW	196
SCN9A	CIFMTMN------N-PPDWT--KNVEYTFT>G<-IYTFESLVKILARGFCVGEFTFLRDPWNW	190
SCN10A	CVCMTRT------D-LPE-----KIEYVFT>V<-IYTFEALIKILARGFCLNEFTYLRDPWNW	191
SCN11A	CVFMATGPA-K--NSNSNNT--DIAECVFT>G<-IYIFEALIKILARGFILDEFSFLRDPWNW	197
CACNA1A	CIVLALEQHLPDDDKTPMSERLDDTEPYFI>G<-IFCFEAGIKIIALGFAFHKGSYLRNGWNV	171
CACNA1B	CIVLALEQHLPDGDKTPMSERLDDTEPYFI>G<-IFCFEAGIKIIALGFVFHKGSYLRNGWNV	168
CACNA1C	CVALAIYIPFPEDDSNATNSNLERVEYLFL>I<-IFTVEAFLKVIAYGLLFHPNAYLRNGWNL	197
CACNA1D	CVALAIYIPFPEDDSNSTNHNLEKVEYAFL>I<-IFTVETFLKIIAYGLLLHPNAYVRNGWNL	199
CACNA1E	CIVLALEQHLPEDDKTPMSRRLEKTEPYFI>G<-IFCFEAGIKIVALGFIFHKGSYLRNGWNV	162
CACNA1F	CVALGVYIPFPEDDSNTANHNLEQVEYVFL>V<-IFTVETVLKIVAYGLVLHPSAYIRNGWNL	165
CACNA1G	CVTLGMFRPCEDIACDSQRCRILQAFDDFI>F<AFFAVEMVVKMVALGI-FGKKCYLGDTWNR	154
CACNA1H	CVTLGMFRPCEDVECGSERCNILEAFDAFI>F<AFFAVEMVIKMVALGL-FGQKCYLGDTWNR	173
CACNA1I	CVTLGMYQPCDDMDCLSDRCKILQVFDDFI>F<IFFAMEMVLKMVALGI-FGKKCYLGDTWNR	152
CACNA1S	CVALAVYLPMPEDDNNSLNLGLEKLEYFFL>I<-VFSIEAAMKIIAYGFLFHQDAYLRSGWNV	124
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A166T	c.496G>A	Putative Benign		rs201232332	SIFT: deleterious Polyphen: probably damaging
Reports		Unknown		Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510