Paralogue Annotation for SCN5A residue 154

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 154
Reference Amino Acid: P - Proline
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 154

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AP149QFebrile seizuresHigh5 19763161, 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.



SCN5ASLFNMLIMCTILTNCVFMAQH------D-P>P<PWT--KYVEYTFTA-IYTFESLVKILARGF181
SCN1ASLFSMLIMCTILTNCVFMTMS------N-P>P<DWT--KNVEYTFTG-IYTFESLIKIIARGF178
SCN2ASLFNMLIMCTILTNCVFMTMS------N-P>P<DWT--KNVEYTFTG-IYTFESLIKILARGF179
SCN3ASLFSMLIMCTILTNCVFMTLS------N-P>P<DWT--KNVEYTFTG-IYTFESLIKILARGF178
SCN4AALFSMFIMITILTNCVFMTMS------D-P>P<PWS--KNVEYTFTG-IYTFESLIKILARGF181
SCN7APFFQLFILISVLIDCVFMSLT------N-L>P<KWR--PVLENTLLG-IYTFEILVKLFARGV168
SCN8ASVFSMIIMCTILTNCVFMTFS------N-P>P<DWS--KNVEYTFTG-IYTFESLVKIIARGF182
SCN9ASLFSMLIMCTILTNCIFMTMN------N-P>P<DWT--KNVEYTFTG-IYTFESLVKILARGF176
SCN10ASWFSLFITVTILVNCVCMTRT------D-L>P<E-----KIEYVFTV-IYTFEALIKILARGF177
SCN11ASLFSMFIIGTVIINCVFMATGPA-K--NSN>S<NNT--DIAECVFTG-IYIFEALIKILARGF183
CACNA1APPFEYMILATIIANCIVLALEQHLPDDDKT>P<MSERLDDTEPYFIG-IFCFEAGIKIIALGF157
CACNA1BPPFEYMILATIIANCIVLALEQHLPDGDKT>P<MSERLDDTEPYFIG-IFCFEAGIKIIALGF154
CACNA1CKPFEIIILLTIFANCVALAIYIPFPEDDSN>A<TNSNLERVEYLFLI-IFTVEAFLKVIAYGL183
CACNA1DKPFDIFILLAIFANCVALAIYIPFPEDDSN>S<TNHNLEKVEYAFLI-IFTVETFLKIIAYGL185
CACNA1EPPFEYMILATIIANCIVLALEQHLPEDDKT>P<MSRRLEKTEPYFIG-IFCFEAGIKIVALGF148
CACNA1FKPFDILILLTIFANCVALGVYIPFPEDDSN>T<ANHNLEQVEYVFLV-IFTVETVLKIVAYGL151
CACNA1GPWFERISMLVILLNCVTLGMFRPCEDIACD>S<QRCRILQAFDDFIFAFFAVEMVVKMVALGI141
CACNA1HPWFEHVSMLVIMLNCVTLGMFRPCEDVECG>S<ERCNILEAFDAFIFAFFAVEMVIKMVALGL160
CACNA1IPWFECVSMLVILLNCVTLGMYQPCDDMDCL>S<DRCKILQVFDDFIFIFFAMEMVLKMVALGI139
CACNA1SKPFETIILLTIFANCVALAVYLPMPEDDNN>S<LNLGLEKLEYFFLI-VFSIEAAMKIIAYGF110
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 154 for SCN5A.