Paralogue Annotation for SCN5A residue 2011

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 2011
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 2011

No paralogue variants have been mapped to residue 2011 for SCN5A.



SCN5A----------------------DFPPSPDR>D<RESIV2016
SCN1A--------------------------KG-->-<----K2009
SCN2A--------------------------KGKD>I<RESKK2005
SCN3A--------------------------KGKE>V<RENQK2000
SCN4A--------------------------VRPG>V<KESLV1836
SCN7A------------------------------>-<IQSQI1682
SCN8A--------------------------RQKE>V<RESKC1980
SCN9A--------------------------KGKD>S<KESKK1977
SCN10A--------------------------TSME>L<IAPGP1956
SCN11A------------------------------>-<----D1791
CACNA1A----------------------RSPSEGRE>H<MAHRQ2261
CACNA1BLS--------------SGGR--ARHSYHHP>D<QDHWC2340
CACNA1C-------GCV-----RARGRPSEEELQDSR>V<YVSSL2138
CACNA1D-------E-E-----PDPGR-DEEDLADEM>I<CITTL2181
CACNA1ERG-----GPG-----PGMMCGAVNNLLSDT>E<EDDKC2313
CACNA1F-------E-E-----SILSRFDEEDLGDEM>A<CVHAL1977
CACNA1G------------------------------>-<----P2377
CACNA1HGLYLTVPQ-CPLEKPGSPSA--TPA-PG-G>G<ADDPV2353
CACNA1I--------------PQPLPG--ELE-PGDA>A<SKRKR2223
CACNA1S---------G-----SSLGSLDQHQGSQET>L<IPPRL1873
cons                              > <     

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Asp2011Gluc.6033C>A UnknownSIFT:
Polyphen: