Paralogue Annotation for SCN5A residue 165

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 165
Reference Amino Acid: T - Threonine
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 165

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	T162P	Myoclonic epilepsy of infancy	High	7	17054684, 25525159

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	NCVFMAQH------D-PPPWT--KYVEYTF>T<A-IYTFESLVKILARGFCLHAFTFLRDPWN	194
SCN1A	NCVFMTMS------N-PPDWT--KNVEYTF>T<G-IYTFESLIKIIARGFCLEDFTFLRDPWN	191
SCN2A	NCVFMTMS------N-PPDWT--KNVEYTF>T<G-IYTFESLIKILARGFCLEDFTFLRDPWN	192
SCN3A	NCVFMTLS------N-PPDWT--KNVEYTF>T<G-IYTFESLIKILARGFCLEDFTFLRDPWN	191
SCN4A	NCVFMTMS------D-PPPWS--KNVEYTF>T<G-IYTFESLIKILARGFCVDDFTFLRDPWN	194
SCN7A	DCVFMSLT------N-LPKWR--PVLENTL>L<G-IYTFEILVKLFARGVWAGSFSFLGDPWN	181
SCN8A	NCVFMTFS------N-PPDWS--KNVEYTF>T<G-IYTFESLVKIIARGFCIDGFTFLRDPWN	195
SCN9A	NCIFMTMN------N-PPDWT--KNVEYTF>T<G-IYTFESLVKILARGFCVGEFTFLRDPWN	189
SCN10A	NCVCMTRT------D-LPE-----KIEYVF>T<V-IYTFEALIKILARGFCLNEFTYLRDPWN	190
SCN11A	NCVFMATGPA-K--NSNSNNT--DIAECVF>T<G-IYIFEALIKILARGFILDEFSFLRDPWN	196
CACNA1A	NCIVLALEQHLPDDDKTPMSERLDDTEPYF>I<G-IFCFEAGIKIIALGFAFHKGSYLRNGWN	170
CACNA1B	NCIVLALEQHLPDGDKTPMSERLDDTEPYF>I<G-IFCFEAGIKIIALGFVFHKGSYLRNGWN	167
CACNA1C	NCVALAIYIPFPEDDSNATNSNLERVEYLF>L<I-IFTVEAFLKVIAYGLLFHPNAYLRNGWN	196
CACNA1D	NCVALAIYIPFPEDDSNSTNHNLEKVEYAF>L<I-IFTVETFLKIIAYGLLLHPNAYVRNGWN	198
CACNA1E	NCIVLALEQHLPEDDKTPMSRRLEKTEPYF>I<G-IFCFEAGIKIVALGFIFHKGSYLRNGWN	161
CACNA1F	NCVALGVYIPFPEDDSNTANHNLEQVEYVF>L<V-IFTVETVLKIVAYGLVLHPSAYIRNGWN	164
CACNA1G	NCVTLGMFRPCEDIACDSQRCRILQAFDDF>I<FAFFAVEMVVKMVALGI-FGKKCYLGDTWN	153
CACNA1H	NCVTLGMFRPCEDVECGSERCNILEAFDAF>I<FAFFAVEMVIKMVALGL-FGQKCYLGDTWN	172
CACNA1I	NCVTLGMYQPCDDMDCLSDRCKILQVFDDF>I<FIFFAMEMVLKMVALGI-FGKKCYLGDTWN	151
CACNA1S	NCVALAVYLPMPEDDNNSLNLGLEKLEYFF>L<I-VFSIEAAMKIIAYGFLFHQDAYLRSGWN	123
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 165 for SCN5A.