Paralogue Annotation for SCN5A residue 858

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 858
Reference Amino Acid: M - Methionine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 858

No paralogue variants have been mapped to residue 858 for SCN5A.



SCN5ALIKIIGNSVGALGNLTLVLAIIVFIFAVVG>M<QLFGKNYSEL-RDS----D-SG---LLPRW879
SCN1ALIKIIGNSVGALGNLTLVLAIIVFIFAVVG>M<QLFGKSYKDC-VCK----I-AS-DCQLPRW932
SCN2ALIKIIGNSVGALGNLTLVLAIIVFIFAVVG>M<QLFGKSYKEC-VCK----I-SN-DCELPRW923
SCN3ALIKIIGNSVGALGNLTLVLAIIVFIFAVVG>M<QLFGKSYKEC-VCK----I-ND-DCTLPRW924
SCN4ALIKIIGNSVGALGNLTLVLAIIVFIFAVVG>M<QLFGKSYKEC-VCK----I-AL-DCNLPRW742
SCN7ALMWSLSNSWVALKDLVLLLFTFIFFSAAFG>M<KLFGKNYEEF-VCH----I-DK-DCQLPRW669
SCN8ALIKIIGNSVGALGNLTLVLAIIVFIFAVVG>M<QLFGKSYKEC-VCK----I-NQ-DCELPRW917
SCN9ALIKIIGNSVGALGNLTLVLAIIVFIFAVVG>M<QLFGKSYKEC-VCK----I-ND-DCTLPRW897
SCN10ALIKIIGNSVGALGNLTIILAIIVFVFALVG>K<QLLGENYRNN-RKN----I-SAPHEDWPRW830
SCN11ALIKIIGNSVGALGSLTVVLVIVIFIFSVVG>M<QLFGRSFNSQ-KSPKLCNPTGPTVSCLRHW749
CACNA1ALVVSLLNSMKSIISLLFLLFLFIVVFALLG>M<QLFGGQFNFD-E------------G-TPPT649
CACNA1BLVVSLLNSMKSIISLLFLLFLFIVVFALLG>M<QLFGGQFNFQ-D------------E-TPTT645
CACNA1CLVASLLNSVRSIASLLLLLFLFIIIFSLLG>M<QLFGGKFNFD-E------------MQTRRS687
CACNA1DLVASLLNSMKSIASLLLLLFLFIIIFSLLG>M<QLFGGKFNFD-E------------TQTKRS706
CACNA1ELVVSLMSSMKSIISLLFLLFLFIVVFALLG>M<QLFGGRFNFN-D------------G-TPSA638
CACNA1FLVASLLNSMKSIASLLLLLFLFIIIFSLLG>M<QLFGGKFNFD-Q------------THTKRS692
CACNA1GQLVVLMKTMDNVATFCMLLMLFIFIFSILG>M<HLFGCKFASER---------DG-DTLPDRK904
CACNA1HQLVVLVKTMDNVATFCTLLMLFIFIFSILG>M<HLFGCKFSLKTD--------TG-DTVPDRK955
CACNA1IQLVVLMKTMDNVATFCMLLMLFIFIFSILG>M<HIFGCKFSLRTD--------TG-DTVPDRK802
CACNA1SLVASLLNSIRSIASLLLLLFLFIVIFALLG>M<QLFGGRYDFE-D------------TEVRRS595
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M858Lc.2572A>C Other Disease PhenotypeSIFT:
Polyphen:
ReportsOther Disease Phenotype Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature. Indian Pacing Electrophysiol J. 2014 14(3):133-49. eCollection 2014. 24948852
p.M858Lc.2572A>T Putative BenignSIFT:
Polyphen: