Paralogue Annotation for SCN5A residue 1134

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1134
Reference Amino Acid: D - Aspartate
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1134

No paralogue variants have been mapped to residue 1134 for SCN5A.



SCN5APG----CGETPE------------------>D<SCSEGSTADMTNTAELLEQIPDLGQDVKDP1164
SCN1A-------KLNES------------------>S<SSSEGSTVDIGAPVE--EQPVVEPEETLEP1177
SCN2A-------KLN-A------------------>T<SSSEGSTVDIGAPAEG-EQPEVEPEESLEP1167
SCN3A-------KLN-A------------------>T<SSSEGSTVDVVLPREG-EQAETEPEEDLKP1165
SCN4A-------PLY-D------------------>G<NSSVCSTADYKPPEEDPEEQAEENPEGEQP990
SCN7A-------KIK-Q------------------>S<SSSECSTVDIAISEEE--EM----FYGGER893
SCN8A-------KLD-D------------------>T<SSSEGSTIDIKPEVE--EVPVEQPEEYLDP1157
SCN9A-------RLN-R------------------>S<SSSECSTVDNPLPGEG-EEAEAEPMNSDEP1140
SCN10A-------GVD-D------------------>T<SSSEGSTVDCLDPEEILRKIPELADDLEEP1111
SCN11ATIQDPRKKSD-V-----------------T>S<ILSECSTIDLQDGFG--WLP--EMVPKKQP1015
CACNA1ANPGPP--KTP-ENSLIVTNPSGTQTNSAKT>A<RKPDHTTVDIPPACPPPL---------NHT1182
CACNA1BLPSTC--LQK-VEEQPEDADNQRNVTRMGS>Q<PPDPNTIVHIPVMLTGPL---------GEA1092
CACNA1C------------------------------>-<---------------RPL---------SEL865
CACNA1D------------------------------>-<---------------RRI---------SEL871
CACNA1E--TDK--ATT-ESTSVTVAIPDVDP----->-<-LVDSTVVHISNKTDG------------EA1096
CACNA1F------------------------------>-<---------------ELL---------QEV836
CACNA1G------------------------------>-<---------------RAW---------IRA1242
CACNA1H------------------------------>-<---------------HKV---------LEP1260
CACNA1I------------------------------>-<---------------RKM---------IDV1136
CACNA1S------------------------------>-<---------------RPL---------AEL764
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D1134Nc.3400G>A Putative BenignSIFT:
Polyphen: