Table 1, SCN5A transcript variants.
Overview of the described splice variants in SCN5A. As different sources refer to the different variants with different numbers and letters, we here aim to provide an unambiguous link between the different annotations. Ensembl transcript number and ID refer to identifications of the Ensembl consortium (www.ensembl.org); CCDS refers to the consensus cDNA (http://www.ncbi.nlm.nih.gov/CCDS/CcdsBrowse.cgi) number. Uniprot ID refers to the reference protein ID (http://www.uniprot.org/); RefSeq ID and cDNA name refers to the reference transcript and protein IDs and the isoform names of NCBI respectively (http://www.ncbi.nlm.nih.gov). Characteristics provides a short summary of the essential differences between the isoforms.
| Ensembl transcript nr | Ensembl ID | length of cDNA | length of protein | CCDS | UniPROT ID | RefSeq IDs (transcript, protein) | NCBI names (transcript, protein) | cDNA name (Schroeter et al) | characteristics |
|---|---|---|---|---|---|---|---|---|---|
| SCN5A-014 | ENST00000333535 | 8456 | 2016 | CCDS46796 | Q14524 | NM_198056, NP_932173 | transcript variant 1, isoform a | NaV1.5c | “adult” exon 6b, inclusion of Q1077 |
| SCN5A-003 | ENST00000423572 | 8362 | 2015 | CCDS46797 | Q14524 | NM_000335, NP_000326 | transcript variant 2, isoform b | NaV1.5 | alternative 5’UTR, ΔQ1077, “adult” exon 6b |
| SCN5A-001 | ENST00000413689 | 8504 | 2016 | CCDS46799 | H9KVD2 | NM_001099404, NP_001092874 | transcript variant 3, isoform c | Nav1.5e | “neonatal” exon 6a, inclusion of Q1077 |
| SCN5A-002 | ENST00000455624 | 7170 | 1983 | CCDS54570 | E9PHB6 | NM_001160160, NP_001153632 | transcript variant 5, isoform e | Nav1.5e | alternative 5’UTR, ΔQ1077, “neonatal” exon 6a |
| SCN5A-004 | ENST00000414099 | 8303 | 1998 | CCDS46798 | E9PG18 | - | - | Nav1.5f | alternative 5’UTR, Q1077, lacking exon 24 |
| SCN5A-008 | ENST00000450102 | 6284 | 1962 | CCDS54569 | K4DIA1 | - | - | n.d. | “neonatal” exon 6a, lacking |
| exon 18, alternative 3’UTR | |||||||||
| SCN5A-010 | ENST00000449557 | 5898 | 1962 | - | A0A0A0MT39 | - | - | NaV1.5a | “adult” exon 6b, lacking exon 18, alternative 3’UTR |
| SCN5A-201 | ENST00000425664 | 8450 | 1998 | CCDS46798 | E9PG18 | NM_001099405, NP_001092875 | transcript variant 4, isoform d | Nav1.5f | predicted transcript, Q1077, lacking exon 24 |
| SCN5A-202 | ENST00000451551 | 8343 | 1962 | CCDS54569 | K4DIA1 | NM_001160161, | transcript variant 6, | n.d. | predicted transcript, lacking |
| NP_001153633 | isoform f | exon 18, “neonatal” exon 6a | |||||||
| SCN5A-203 | ENST00000612060 | 714 | 223 | - | Q86V90 | - | - | n.d. | incomplete |
| SCN5A-006 | ENST00000327956 | 335 | 65 | - | A3EY21 | - | - | n.d. | incomplete |
| SCN5A-005 | ENST00000491944 | 1382 | - | - | - | - | - | n.d. | non-coding |
| SCN5A-013 | ENST00000476683 | 774 | - | - | - | - | - | n.d. | non-coding |
| SCN5A-011 | ENST00000464652 | 591 | - | - | - | - | - | n.d. | non-coding |