Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23621 | 71086;71087;71088 | chr2:178575271;178575270;178575269 | chr2:179439998;179439997;179439996 |
| N2AB | 21980 | 66163;66164;66165 | chr2:178575271;178575270;178575269 | chr2:179439998;179439997;179439996 |
| N2A | 21053 | 63382;63383;63384 | chr2:178575271;178575270;178575269 | chr2:179439998;179439997;179439996 |
| N2B | 14556 | 43891;43892;43893 | chr2:178575271;178575270;178575269 | chr2:179439998;179439997;179439996 |
| Novex-1 | 14681 | 44266;44267;44268 | chr2:178575271;178575270;178575269 | chr2:179439998;179439997;179439996 |
| Novex-2 | 14748 | 44467;44468;44469 | chr2:178575271;178575270;178575269 | chr2:179439998;179439997;179439996 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | None | None | 1.0 | N | 0.861 | 0.291 | 0.21279746466 | gnomAD-4.0.0 | 1.36881E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79922E-06 | 0 | 0 |
| P/T | None | None | 1.0 | N | 0.857 | 0.319 | 0.32714864917 | gnomAD-4.0.0 | 6.84406E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99609E-07 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1054 | likely_benign | 0.1019 | benign | -0.729 | Destabilizing | 0.998 | D | 0.837 | deleterious | N | 0.516531788 | None | None | N |
| P/C | 0.6977 | likely_pathogenic | 0.6693 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| P/D | 0.6859 | likely_pathogenic | 0.6432 | pathogenic | -0.433 | Destabilizing | 0.999 | D | 0.873 | deleterious | None | None | None | None | N |
| P/E | 0.4976 | ambiguous | 0.4675 | ambiguous | -0.518 | Destabilizing | 0.999 | D | 0.865 | deleterious | None | None | None | None | N |
| P/F | 0.7466 | likely_pathogenic | 0.6973 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| P/G | 0.4402 | ambiguous | 0.4291 | ambiguous | -0.916 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/H | 0.3517 | ambiguous | 0.3126 | benign | -0.393 | Destabilizing | 1.0 | D | 0.881 | deleterious | N | 0.470969802 | None | None | N |
| P/I | 0.5327 | ambiguous | 0.4689 | ambiguous | -0.369 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/K | 0.4968 | ambiguous | 0.4675 | ambiguous | -0.677 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| P/L | 0.236 | likely_benign | 0.2129 | benign | -0.369 | Destabilizing | 1.0 | D | 0.866 | deleterious | N | 0.46523213 | None | None | N |
| P/M | 0.4752 | ambiguous | 0.4291 | ambiguous | -0.401 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/N | 0.478 | ambiguous | 0.4581 | ambiguous | -0.418 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/Q | 0.2926 | likely_benign | 0.2762 | benign | -0.644 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| P/R | 0.3429 | ambiguous | 0.3136 | benign | -0.124 | Destabilizing | 1.0 | D | 0.903 | deleterious | N | 0.467006556 | None | None | N |
| P/S | 0.1953 | likely_benign | 0.1894 | benign | -0.837 | Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.485304804 | None | None | N |
| P/T | 0.1676 | likely_benign | 0.1531 | benign | -0.817 | Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.488825112 | None | None | N |
| P/V | 0.3503 | ambiguous | 0.3061 | benign | -0.453 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| P/W | 0.8514 | likely_pathogenic | 0.8176 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/Y | 0.7016 | likely_pathogenic | 0.6621 | pathogenic | -0.55 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.