Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34381 | 103366;103367;103368 | chr2:178533474;178533473;178533472 | chr2:179398201;179398200;179398199 |
| N2AB | 32740 | 98443;98444;98445 | chr2:178533474;178533473;178533472 | chr2:179398201;179398200;179398199 |
| N2A | 31813 | 95662;95663;95664 | chr2:178533474;178533473;178533472 | chr2:179398201;179398200;179398199 |
| N2B | 25316 | 76171;76172;76173 | chr2:178533474;178533473;178533472 | chr2:179398201;179398200;179398199 |
| Novex-1 | 25441 | 76546;76547;76548 | chr2:178533474;178533473;178533472 | chr2:179398201;179398200;179398199 |
| Novex-2 | 25508 | 76747;76748;76749 | chr2:178533474;178533473;178533472 | chr2:179398201;179398200;179398199 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | rs1357763703  |
-1.428 | 0.882 | N | 0.558 | 0.334 | 0.757505148635 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| C/F | rs1357763703 |
-1.428 | 0.882 | N | 0.558 | 0.334 | 0.757505148635 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06782E-04 | 0 |
| C/F | rs1357763703 |
-1.428 | 0.882 | N | 0.558 | 0.334 | 0.757505148635 | gnomAD-4.0.0 | 2.56314E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.68032E-05 | 0 |
| C/S | rs1357763703 |
-1.799 | 0.006 | N | 0.25 | 0.338 | 0.50970329007 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| C/S | rs1357763703 |
-1.799 | 0.006 | N | 0.25 | 0.338 | 0.50970329007 | gnomAD-4.0.0 | 4.7764E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.2991E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5542 | ambiguous | 0.4711 | ambiguous | -1.736 | Destabilizing | 0.051 | N | 0.336 | neutral | None | None | None | None | N |
| C/D | 0.9241 | likely_pathogenic | 0.8848 | pathogenic | -0.142 | Destabilizing | 0.365 | N | 0.443 | neutral | None | None | None | None | N |
| C/E | 0.9479 | likely_pathogenic | 0.9153 | pathogenic | -0.062 | Destabilizing | 0.111 | N | 0.405 | neutral | None | None | None | None | N |
| C/F | 0.5671 | likely_pathogenic | 0.465 | ambiguous | -1.119 | Destabilizing | 0.882 | D | 0.558 | neutral | N | 0.424470642 | None | None | N |
| C/G | 0.4796 | ambiguous | 0.4091 | ambiguous | -2.019 | Highly Destabilizing | 0.178 | N | 0.407 | neutral | N | 0.489636841 | None | None | N |
| C/H | 0.7549 | likely_pathogenic | 0.6525 | pathogenic | -1.776 | Destabilizing | 0.908 | D | 0.518 | neutral | None | None | None | None | N |
| C/I | 0.6701 | likely_pathogenic | 0.5693 | pathogenic | -1.017 | Destabilizing | 0.738 | D | 0.488 | neutral | None | None | None | None | N |
| C/K | 0.9146 | likely_pathogenic | 0.8585 | pathogenic | -0.905 | Destabilizing | 0.111 | N | 0.407 | neutral | None | None | None | None | N |
| C/L | 0.6729 | likely_pathogenic | 0.594 | pathogenic | -1.017 | Destabilizing | 0.365 | N | 0.358 | neutral | None | None | None | None | N |
| C/M | 0.7871 | likely_pathogenic | 0.7164 | pathogenic | -0.069 | Destabilizing | 0.968 | D | 0.434 | neutral | None | None | None | None | N |
| C/N | 0.7412 | likely_pathogenic | 0.6441 | pathogenic | -0.816 | Destabilizing | 0.365 | N | 0.441 | neutral | None | None | None | None | N |
| C/P | 0.99 | likely_pathogenic | 0.9882 | pathogenic | -1.232 | Destabilizing | 0.738 | D | 0.533 | neutral | None | None | None | None | N |
| C/Q | 0.7884 | likely_pathogenic | 0.7052 | pathogenic | -0.759 | Destabilizing | 0.022 | N | 0.484 | neutral | None | None | None | None | N |
| C/R | 0.6071 | likely_pathogenic | 0.513 | ambiguous | -0.62 | Destabilizing | None | N | 0.429 | neutral | N | 0.313089363 | None | None | N |
| C/S | 0.4058 | ambiguous | 0.3272 | benign | -1.409 | Destabilizing | 0.006 | N | 0.25 | neutral | N | 0.366673132 | None | None | N |
| C/T | 0.529 | ambiguous | 0.4482 | ambiguous | -1.151 | Destabilizing | 0.223 | N | 0.381 | neutral | None | None | None | None | N |
| C/V | 0.5451 | ambiguous | 0.4636 | ambiguous | -1.232 | Destabilizing | 0.365 | N | 0.426 | neutral | None | None | None | None | N |
| C/W | 0.8715 | likely_pathogenic | 0.8043 | pathogenic | -1.029 | Destabilizing | 0.988 | D | 0.507 | neutral | N | 0.489810199 | None | None | N |
| C/Y | 0.6839 | likely_pathogenic | 0.5651 | pathogenic | -1.06 | Destabilizing | 0.866 | D | 0.562 | neutral | N | 0.430031177 | 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.