Paralogue Annotation for SCN5A residue 1612

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1612
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1612

No paralogue variants have been mapped to residue 1612 for SCN5A.



SCN5AR-HYYFTNSWNIFDFVVVILSIVGTVLSDI>I<Q----------------------KYFFSPT1620
SCN1AR-HYYFTIGWNIFDFVVVILSIVGMFLAEL>I<E----------------------KYFVSPT1633
SCN2AR-YYYFTIGWNIFDFVVVILSIVGMFLAEL>I<E----------------------KYFVSPT1623
SCN3AR-HYYFTIGWNIFDFVVVILSIVGMFLAEM>I<E----------------------KYFVSPT1618
SCN4AR-QYYFTVGWNIFDFVVVILSIVGLALSDL>I<Q----------------------KYFVSPT1445
SCN7AR-CFYFTIAWNIFDFMVVIFSITGLCLPMT>V<G----------------------SYLVPPS1343
SCN8AR-HYYFTIGWNIFDFVVVILSIVGMFLADI>I<E----------------------KYFVSPT1614
SCN9AR-HYYFTVGWNIFDFVVVIISIVGMFLADL>I<E----------------------TYFVSPT1596
SCN10AR-QYYFTNGWNVFDFIVVVLSIASLIFSAI>L<KS--------------------LQSYFSPT1570
SCN11AR-QYYFTNGWNLFDCVVVLLSIVSTMISTL>E<NQ--------------------EHIPFPPT1460
CACNA1AGILNYFRDAWNIFDFVTVLGSITDILVTEF>G<NN-----------------------FINLS1658
CACNA1BGVLNYFRDAWNVFDFVTVLGSITDILVTEI>A<ET---------------------NNFINLS1566
CACNA1CKPKHYFCDAWNTFDALIVVGSIVDIAITEV>N<PAE----HTQ----CSPSMNAEENSRISIT1326
CACNA1DKPKGYFSDAWNTFDSLIVIGSIIDVALSEA>D<PTE----SENVPVPTATPGNSEESNRISIT1336
CACNA1EGFLNYFRDTWNIFDFITVIGSITEIILTDS>K<LV--------------------NTSGFNMS1573
CACNA1FKPKHYFTDAWNTFDALIVVGSIVDIAVTEV>N<NGG----HLG----E----SSEDSSRISIT1293
CACNA1GGFRRFFQDRWNQLDLAIVLLSIMGITLEEI>E<VN--------------------ASLPINPT1706
CACNA1HGFRRFFKDRWNQLDLAIVLLSLMGITLEEI>E<MS--------------------AALPINPT1712
CACNA1IGLRRFFKDRWNQLDLAIVLLSVMGITLEEI>E<IN--------------------AALPINPT1582
CACNA1SKARGYFGDPWNVFDFLIVIGSIIDVILSEI>D<TFLASSGGLYCLGGGCGNVDPDESARISSA1233
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I1612Nc.4835T>A Putative BenignSIFT: deleterious
Polyphen: possibly damaging