Paralogue Annotation for SCN5A residue 176

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 176
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 176

No paralogue variants have been mapped to residue 176 for SCN5A.



SCN5A--D-PPPWT--KYVEYTFTA-IYTFESLVK>I<LARGFCLHAFTFLRDPWNWLDFSVIIMAYV206
SCN1A--N-PPDWT--KNVEYTFTG-IYTFESLIK>I<IARGFCLEDFTFLRDPWNWLDFTVITFAYV203
SCN2A--N-PPDWT--KNVEYTFTG-IYTFESLIK>I<LARGFCLEDFTFLRDPWNWLDFTVITFAYV204
SCN3A--N-PPDWT--KNVEYTFTG-IYTFESLIK>I<LARGFCLEDFTFLRDPWNWLDFSVIVMAYV203
SCN4A--D-PPPWS--KNVEYTFTG-IYTFESLIK>I<LARGFCVDDFTFLRDPWNWLDFSVIMMAYL206
SCN7A--N-LPKWR--PVLENTLLG-IYTFEILVK>L<FARGVWAGSFSFLGDPWNWLDFSVTVFEVI193
SCN8A--N-PPDWS--KNVEYTFTG-IYTFESLVK>I<IARGFCIDGFTFLRDPWNWLDFSVIMMAYI207
SCN9A--N-PPDWT--KNVEYTFTG-IYTFESLVK>I<LARGFCVGEFTFLRDPWNWLDFVVIVFAYL201
SCN10A--D-LPE-----KIEYVFTV-IYTFEALIK>I<LARGFCLNEFTYLRDPWNWLDFSVITLAYV202
SCN11A--NSNSNNT--DIAECVFTG-IYIFEALIK>I<LARGFILDEFSFLRDPWNWLDSIVIGIAIV208
CACNA1ADDDKTPMSERLDDTEPYFIG-IFCFEAGIK>I<IALGFAFHKGSYLRNGWNVMDFVVVLTGIL182
CACNA1BDGDKTPMSERLDDTEPYFIG-IFCFEAGIK>I<IALGFVFHKGSYLRNGWNVMDFVVVLTGIL179
CACNA1CEDDSNATNSNLERVEYLFLI-IFTVEAFLK>V<IAYGLLFHPNAYLRNGWNLLDFIIVVVGLF208
CACNA1DEDDSNSTNHNLEKVEYAFLI-IFTVETFLK>I<IAYGLLLHPNAYVRNGWNLLDFVIVIVGLF210
CACNA1EEDDKTPMSRRLEKTEPYFIG-IFCFEAGIK>I<VALGFIFHKGSYLRNGWNVMDFIVVLSGIL173
CACNA1FEDDSNTANHNLEQVEYVFLV-IFTVETVLK>I<VAYGLVLHPSAYIRNGWNLLDFIIVVVGLF176
CACNA1GDIACDSQRCRILQAFDDFIFAFFAVEMVVK>M<VALGI-FGKKCYLGDTWNRLDFFIVIAGML165
CACNA1HDVECGSERCNILEAFDAFIFAFFAVEMVIK>M<VALGL-FGQKCYLGDTWNRLDFFIVVAGMM184
CACNA1IDMDCLSDRCKILQVFDDFIFIFFAMEMVLK>M<VALGI-FGKKCYLGDTWNRLDFFIVMAGMV163
CACNA1SEDDNNSLNLGLEKLEYFFLI-VFSIEAAMK>I<IAYGFLFHQDAYLRSGWNVLDFTIVFLGVF135
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I176Mc.528T>G Inherited ArrhythmiaLQTSrs199473064SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life: a nationwide questionnaire survey in Japan. Circ Arrhythm Electrophysiol. 2010 3(1):10-7. 19996378