Paralogue Annotation for SCN5A residue 292

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 292
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 292

No paralogue variants have been mapped to residue 292 for SCN5A.



SCN5A----NFTALN---G-TN------------->G<S---------VEADGLVWESLDLYLSD-PE312
SCN1A-EKNITVNYN---G-TL------------->I<N---------ETVFEF---DWKSYIQD-SR322
SCN2ASFFNNSLDGN---G-TT------------->F<N---------RTVSIF---NWDEYIED-KS324
SCN3ASYFNGTMDSN---G-TF------------->V<N---------VTMSTF---NWKDYIGD-DS323
SCN4AWYSNDTWYGN---D-TWYGNEMWYGNDSWY>A<NDTWNSHASWATNDTF---DWDAYISD-EG346
SCN7A---------N---E-TLH------------>-<N---------RTG-------NPYYIRE-TE293
SCN8A------INFN---E-SY------------->L<E---------NGTKGF---DWEEYINN-KT310
SCN9A------LENN---E-TL------------->E<S---------IMNTLE---SEEDF----RK301
SCN10A-----DMAVN---E-TTN------------>-<--------------Y------S-SHRK-PD296
SCN11A-----DCK-N---I-SN------------->-<--------------------PE---AY-DH299
CACNA1A--DI-----Q---G---------------->-<------------------------------266
CACNA1B--A------E---P---------------->-<------------------------------262
CACNA1C---V----PA---E---------------->-<------------------------------310
CACNA1D---I----VA---E---------------->-<------------------------------311
CACNA1E--IL----EG---F---------------->-<------------------------------262
CACNA1F---M----EA---E---------------->-<------------------------------277
CACNA1G-RYYQT-ENE---DESPFICSQPRENG--->-<---MRSCRSVPTLRGD---GGGGPPCG-LD301
CACNA1H-PYYQT-EEG---EENPFICSSRRDNG--->-<---MQKCSHIPGRRE------LRMPCT-LG318
CACNA1I-PYYQP-EED---DEMPFICSLSGDNG--->-<---IMGCHEIPPLKE------QGRECCLSK297
CACNA1S---I----VATVEN---------------->-<------------------------------239
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G292Sc.874G>A Inherited ArrhythmiaBrSSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaBrS Genetic analysis of Brugada syndrome in Western Japan: two novel mutations. Circ J. 2004 68(8):740-6. 15277732