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 |
CACNA1A | DVEDEDSDEDEFQITEHNNFRTFFQALMLL>F<RSATGEAWHNIMLSCLSG--KPCDKNSGIL | 1778 |
CACNA1B | DD---DTS-----INRHNNFRTFLQALMLL>F<RSATGEAWHEIMLSCLSN--QACDE---Q- | 1674 |
CACNA1C | ND---TTE-----INRNNNFQTFPQAVLLL>F<RCATGEAWQDIMLACMPG--KKCAPESEP- | 1437 |
CACNA1D | RD---NNQ-----INRNNNFQTFPQAVLLL>F<RCATGEAWQEIMLACLPG--KLCDPESDY- | 1447 |
CACNA1E | DE---ESH-----INRHNNFRSFFGSLMLL>F<RSATGEAWQEIMLSCLGE--KGCEPDTTAP | 1685 |
CACNA1F | QD---GTQ-----INRNNNFQTFPQAVLLL>F<RCATGEAWQEIMLASLPG--NRCDPESDF- | 1404 |
CACNA1G | DET---HP--CEGLGRHATFRNFGMAFLTL>F<RVSTGDNWNGIMKDTLRD----CDQEST-- | 1820 |
CACNA1H | SED---NP--CEGLSRHATFSNFGMAFLTL>F<RVSTGDNWNGIMKDTLRE----CSREDKH- | 1827 |
CACNA1I | NDE---NP--CEGMSRHATFENFGMAFLTL>F<QVSTGDNWNGIMKDTLRD----CTHDERS- | 1697 |
CACNA1S | VD---GTQ-----INRNNNFQTFPQAVLLL>F<RCATGEAWQEILLACSYG--KLCDPESDY- | 1344 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F1705S | c.5114T>C | Other Cardiac Phenotype | rs199473627 | SIFT: deleterious Polyphen: probably damaging | |
Reports | Other Cardiac Phenotype | Cardiac ion channel gene mutations in sudden infant death syndrome. Pediatr Res. 2008 64(5):482-7. 18596570 |