Paralogue Annotation for SCN5A residue 49

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 49
Reference Amino Acid: E - Glutamate
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 49

No paralogue variants have been mapped to residue 49 for SCN5A.



SCN5ALAAIEKRMAEK-QARGSTTLQESRE-GLPE>E<--EAPRPQLDLQASKKLPDLYGNPPQELIG77
SCN1ALAAIERRIAEE-KAKNPKPD----K-KDDD>E<--NGPKPNSDLEAGKNLPFIYGDIPPEMVS74
SCN2ALAAIEQRIAEE-KAKRPKQE----RKDEDD>E<--NGPKPNSDLEAGKSLPFIYGDIPPEMVS75
SCN3ALAAIEKRAAEE-KAKKPKKE----Q-DNDD>E<--NKPKPNSDLEAGKNLPFIYGDIPPEMVS74
SCN4ALAAIEQRAVEE-EARLQRNK----Q-MEIE>E<--PERKPRSDLEAGKNLPMIYGDPPPEVIG77
SCN7AFELIKQHIAKT--------H----N-EDHE>E<--EDLKPTPDLEVGKKLPFIYGNLSQGMVS63
SCN8ALANIERRIAES-KLKKPPKADGSHR-EDDE>D<--SKPKPNSDLEAGKSLPFIYGDIPQGLVA78
SCN9ALALIEQRIAER-KSKEPKEE----K-KDDD>E<--EAPKPSSDLEAGKQLPFIYGDIPPGMVS72
SCN10ALVEIEKQIAAKQGT-KKARE-KHRE-QKDQ>E<--EKPRPQLDLKACNQLPKFYGELPAELIG76
SCN11ALAAIEKRIAIQ-KEKKKSK-----D-QTGE>V<--PQPRPQLDLKASRKLPKLYGDIPRELIG75
CACNA1AGAAAGV-------------VVGSG-GGRGA>G<--GSRQGGQ--------PGA----------44
CACNA1BGERA-----------------RGG-GAGGA>G<--GPGPGGLQ-------PGQ----------41
CACNA1CPAHANMN--------A-NAAAGLA----PE>H<--IPTPGAALSWQAAIDAARQAKLMGSAGN70
CACNA1DANYARGT--------R-LPLSGEG----PT>S<QPNSSKQTVLSWQAAIDAARQAKAAQTMST71
CACNA1EGDGD----------------SD-Q-SRNRQ>G<--TPVPA----------SGQ----------35
CACNA1FPSPAN--------------GAGPG----PE>W<GLCPGP----P-------AV--------EG37
CACNA1G------F--------M--RLND------LS>G<--AGGRP-----------G-----------33
CACNA1HPGAPGRE--------A--ERGS------EL>G<--VSPSE-----------S-----------53
CACNA1I---------------E--PGVTTE----QP>G<--P--RS--P-------PS-----------33
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E49Kc.145G>A Putative BenignSIFT:
Polyphen: