Paralogue Annotation for SCN5A residue 175

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 175
Reference Amino Acid: K - Lysine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 175

No paralogue variants have been mapped to residue 175 for SCN5A.



SCN5A---D-PPPWT--KYVEYTFTA-IYTFESLV>K<ILARGFCLHAFTFLRDPWNWLDFSVIIMAY205
SCN1A---N-PPDWT--KNVEYTFTG-IYTFESLI>K<IIARGFCLEDFTFLRDPWNWLDFTVITFAY202
SCN2A---N-PPDWT--KNVEYTFTG-IYTFESLI>K<ILARGFCLEDFTFLRDPWNWLDFTVITFAY203
SCN3A---N-PPDWT--KNVEYTFTG-IYTFESLI>K<ILARGFCLEDFTFLRDPWNWLDFSVIVMAY202
SCN4A---D-PPPWS--KNVEYTFTG-IYTFESLI>K<ILARGFCVDDFTFLRDPWNWLDFSVIMMAY205
SCN7A---N-LPKWR--PVLENTLLG-IYTFEILV>K<LFARGVWAGSFSFLGDPWNWLDFSVTVFEV192
SCN8A---N-PPDWS--KNVEYTFTG-IYTFESLV>K<IIARGFCIDGFTFLRDPWNWLDFSVIMMAY206
SCN9A---N-PPDWT--KNVEYTFTG-IYTFESLV>K<ILARGFCVGEFTFLRDPWNWLDFVVIVFAY200
SCN10A---D-LPE-----KIEYVFTV-IYTFEALI>K<ILARGFCLNEFTYLRDPWNWLDFSVITLAY201
SCN11AK--NSNSNNT--DIAECVFTG-IYIFEALI>K<ILARGFILDEFSFLRDPWNWLDSIVIGIAI207
CACNA1APDDDKTPMSERLDDTEPYFIG-IFCFEAGI>K<IIALGFAFHKGSYLRNGWNVMDFVVVLTGI181
CACNA1BPDGDKTPMSERLDDTEPYFIG-IFCFEAGI>K<IIALGFVFHKGSYLRNGWNVMDFVVVLTGI178
CACNA1CPEDDSNATNSNLERVEYLFLI-IFTVEAFL>K<VIAYGLLFHPNAYLRNGWNLLDFIIVVVGL207
CACNA1DPEDDSNSTNHNLEKVEYAFLI-IFTVETFL>K<IIAYGLLLHPNAYVRNGWNLLDFVIVIVGL209
CACNA1EPEDDKTPMSRRLEKTEPYFIG-IFCFEAGI>K<IVALGFIFHKGSYLRNGWNVMDFIVVLSGI172
CACNA1FPEDDSNTANHNLEQVEYVFLV-IFTVETVL>K<IVAYGLVLHPSAYIRNGWNLLDFIIVVVGL175
CACNA1GEDIACDSQRCRILQAFDDFIFAFFAVEMVV>K<MVALGI-FGKKCYLGDTWNRLDFFIVIAGM164
CACNA1HEDVECGSERCNILEAFDAFIFAFFAVEMVI>K<MVALGL-FGQKCYLGDTWNRLDFFIVVAGM183
CACNA1IDDMDCLSDRCKILQVFDDFIFIFFAMEMVL>K<MVALGI-FGKKCYLGDTWNRLDFFIVMAGM162
CACNA1SPEDDNNSLNLGLEKLEYFFLI-VFSIEAAM>K<IIAYGFLFHQDAYLRSGWNVLDFTIVFLGV134
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K175Nc.525G>C Inherited ArrhythmiaBrSrs199473063SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283