Paralogue Annotation for SCN5A residue 1705

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1705
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1705

No paralogue variants have been mapped to residue 1705 for SCN5A.



SCN5A-----EAG-----IDDMFNFQTFANSMLCL>F<QITTSAGWDGLLSPILNTGPPYCDPTLPN-1734
SCN1A-----EVG-----IDDMFNFETFGNSMICL>F<QITTSAGWDGLLAPILNSKPPDCDPNKVN-1747
SCN2A-----EVG-----IDDMFNFETFGNSMICL>F<QITTSAGWDGLLAPILNSGPPDCDPDKDH-1737
SCN3A-----EAG-----IDDMFNFETFGNSMICL>F<QITTSAGWDGLLAPILNSAPPDCDPDTIH-1732
SCN4A-----ESG-----IDDMFNFETFGNSIICL>F<EITTSAGWDGLLNPILNSGPPDCDPNLEN-1559
SCN7A-----EAG-----INDVSNFETFGNSMLCL>F<QVAIFAGWDGMLDAIFNSKWSDCDPDKIN-1457
SCN8A-----EAG-----IDDMFNFETFGNSMICL>F<QITTSAGWDGLLLPILN-RPPDCSLDKEH-1727
SCN9A-----EDG-----INDMFNFETFGNSMICL>F<QITTSAGWDGLLAPILNSKPPDCDPKKVH-1710
SCN10A-----EAG-----IDDMFNFQTFANSMLCL>F<QITTSAGWDGLLSPILNTGPPYCDPNLPN-1684
SCN11A-----ESG-----IDDIFNFKTFASSMLCL>F<QISTSAGWDSLLSPMLRSKES-CN------1568
CACNA1ADVEDEDSDEDEFQITEHNNFRTFFQALMLL>F<RSATGEAWHNIMLSCLSG--KPCDKNSGIL1778
CACNA1BDD---DTS-----INRHNNFRTFLQALMLL>F<RSATGEAWHEIMLSCLSN--QACDE---Q-1674
CACNA1CND---TTE-----INRNNNFQTFPQAVLLL>F<RCATGEAWQDIMLACMPG--KKCAPESEP-1437
CACNA1DRD---NNQ-----INRNNNFQTFPQAVLLL>F<RCATGEAWQEIMLACLPG--KLCDPESDY-1447
CACNA1EDE---ESH-----INRHNNFRSFFGSLMLL>F<RSATGEAWQEIMLSCLGE--KGCEPDTTAP1685
CACNA1FQD---GTQ-----INRNNNFQTFPQAVLLL>F<RCATGEAWQEIMLASLPG--NRCDPESDF-1404
CACNA1GDET---HP--CEGLGRHATFRNFGMAFLTL>F<RVSTGDNWNGIMKDTLRD----CDQEST--1820
CACNA1HSED---NP--CEGLSRHATFSNFGMAFLTL>F<RVSTGDNWNGIMKDTLRE----CSREDKH-1827
CACNA1INDE---NP--CEGMSRHATFENFGMAFLTL>F<QVSTGDNWNGIMKDTLRD----CTHDERS-1697
CACNA1SVD---GTQ-----INRNNNFQTFPQAVLLL>F<RCATGEAWQEILLACSYG--KLCDPESDY-1344
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F1705Sc.5114T>C Other Cardiac Phenotypers199473627SIFT: deleterious
Polyphen: probably damaging
ReportsOther Cardiac Phenotype Cardiac ion channel gene mutations in sudden infant death syndrome. Pediatr Res. 2008 64(5):482-7. 18596570