Paralogue Annotation for SCN5A residue 1062

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1062
Reference Amino Acid: D - Aspartate
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1062

No paralogue variants have been mapped to residue 1062 for SCN5A.



SCN5AAVAESD------TDD------------QEE>D<------------------------------1062
SCN1AAVGESD------FEN------------LNT>E<------------------------------1130
SCN2AAVGESD------FEN------------LNT>E<------------------------------1120
SCN3AAVGESD------FEN------------LNT>E<------------------------------1118
SCN4AASEESD------LEM------------PTE>E<------------------------------939
SCN7AASGESD------IEN------------LDN>K<------------------------------851
SCN8AAVGESD------FEN------------LNT>E<------------------------------1111
SCN9AAPGESD------LEN------------MNA>E<------------------------------1093
SCN10AAEGESD------LDD------------LED>D<GGEDAQ----SFQQEVIPKGQQE-QLQQ--1035
SCN11AAEEEDD------VEF------------SGE>D<------------------------------932
CACNA1AGSPRTG------ADGEHRRHRAHRR--PGE>E<GP-EDKAE--RRARHREGSRPARGG-EGEG994
CACNA1BGSPEEA------AEREPRRHRAHRH--QDP>S<KE-CAGAKGERRARHRG-G--PR---AGPR968
CACNA1C---------------------EEKIELKSI>T<---------------------ADG------813
CACNA1D---------------------------NQI>A<---------------------NSD------820
CACNA1ERSRHRRVRTEGKESSSASRSRSASQERSLD>E<AM-PTEGE--KDHELRGNHG-A----KEPT972
CACNA1F------------------------------>-<------------------------------
CACNA1GGERRSL------LSG------------EGQ>E<SQ-DEEES--SEEERASPAG----SD----1157
CACNA1HGERESL------LSG------------EGK>G<ST-DDEAE--DGRAAPGPRA----TP----1192
CACNA1IAEHESL------LSA------------ERG>G<GARVCE----VAADEGPPRAAPL-HTPHAH1038
CACNA1S---------------------------EQK>P<---------------------KGE------712
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D1062Hc.3184G>C Putative BenignSIFT:
Polyphen: