Paralogue Annotation for SCN5A residue 1027

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1027
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1027

No paralogue variants have been mapped to residue 1027 for SCN5A.



SCN5AQGQLPSCIATPYSPPP-PETEKVPPTRKET>R<FEEG--EQPGQG------------------1037
SCN1ANNKKDSCMSNHT--------AEIGKDLDYL>K<DVNG--TTSGIG------------------1087
SCN2ANNKKDSCISNHT-------TIEIGKDLNYL>K<DGNG--TTSGI-------------------1078
SCN3AGNKIDSCMSNNT-------GIEISKELNYL>R<DGNG--TTSGVG------------------1075
SCN4AGEAGEAGETAPE-------DEKKEPPEEDL>K<KDNH--ILNHMG------------------898
SCN7AYVKED--ISDHTL-------SELSNTQDFL>K<DKEK--S-S---------------------812
SCN8AYEKKANCIANHT-------GADIHRNGDFQ>K<NGNG--TTSGI-------------------1070
SCN9ANTKKENYISNHT-------LAEMSKGHNFL>K<EKD---KISGF-------------------1051
SCN10ASSKAENHIAANT------------------>-<-ARG--SSGGLQ------------------975
SCN11AKEVAGGCAAQ---------SKDIIPLVMEM>K<RGSE--TQEELG------------------898
CACNA1ADERWKAAYTR-HLRPDMKTHLDRPLVVDPQ>E<NRN-NNTNKSRAAEPTVDQRLGQQ-RAED-857
CACNA1BEERLRFATTR-HLRPDMKTHLDRPLVVELG>R<DGA-RGPVGGKARPEAAEAPEGVD-PP---849
CACNA1C------------------------------>-<------------------------EKKQEL790
CACNA1D------------------------------>-<------------------------ENKKN-808
CACNA1ETMNPLNPLNP-LSSL-------NPLNAHPS>L<YRR-PRAIEGLAL-----GLALEKFEEER-849
CACNA1F------------------------------>-<------------------------V-----790
CACNA1GLIIHTAATPM-SLPKSTSTGLGEALGPASR>R<TS-SSGSAEPGA------------------1079
CACNA1HLIMCTAATPM-PTPKS-SPFLDAAPSLPDS>R<RGSSSS-GDP-P------------------1114
CACNA1ILGPAGAAGPA-P--RL-SLQPDPMLVALGS>R<KSSVMS-LGR-M------------------960
CACNA1S------------------------------>-<------------------------EEKST-700
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1027Qc.3080G>A Putative BenignSIFT:
Polyphen:
p.R1027Wc.3079C>T CardiomyopathynsCMSIFT:
Polyphen:
ReportsCardiomyopathynsCM Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders. Electrophoresis. 2014 35(21-22):3111-6. doi: 10.1002/elps.201400148. 24981977