Paralogue Annotation for SCN5A residue 1044

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1044
Reference Amino Acid: P - Proline
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1044

No paralogue variants have been mapped to residue 1044 for SCN5A.



SCN5A------------------------------>P<VCVPIAVAESD------TDD----------1058
SCN1ASFINN----------------------PSL>T<VTVPIAVGESD------FEN----------1126
SCN2ASFINN----------------------PSL>T<VTVPIAVGESD------FEN----------1116
SCN3ASFINN----------------------PSL>T<VTVPIAVGESD------FEN----------1114
SCN4ANFINN----------------------PYL>T<IQVPIASEESD------LEM----------935
SCN7ASLIPS----------------------PSV>S<ETVPIASGESD------IEN----------847
SCN8ASFINN----------------------PNL>T<VRVPIAVGESD------FEN----------1107
SCN9ASFIHN----------------------PSL>T<VTVPIAPGESD------LEN----------1089
SCN10ADFIAN----------------------PTV>W<VSVPIAEGESD------LDD----------1008
SCN11A------------------------------>T<WLAPLAEEEDD------VEF----------928
CACNA1ASLEQPGFWEGEAERGKAGDPHRRHVHRQGG>S<RESRSGSPRTG------ADGEHRRHRAHRR964
CACNA1BSKEAAGPPEARSERGR-------GPGPEGG>R<RHHRRGSPEEA------AEREPRRHRAHRH941
CACNA1C---------------------GESK----->-<--------------------------EEKI804
CACNA1D------------------------------>-<------------------------------
CACNA1ETQQEAGGGEAVVTFED-----------RAR>H<RQSQRRSRHRRVRTEGKESSSASRSRSASQ944
CACNA1F------------------------------>-<------------------------------
CACNA1GSLGRA-----P-----------------SL>K<RRSPSGERRSL------LSG----------1134
CACNA1HSLGRA-----P-----------------SL>K<RRGQCGERESL------LSG----------1169
CACNA1ISLKHK-----P------------------->-<---PSAEHESL------LSA----------1009
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1044Lc.3131C>T Putative BenignSIFT: tolerated
Polyphen: possibly damaging