Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34271 | 103036;103037;103038 | chr2:178533804;178533803;178533802 | chr2:179398531;179398530;179398529 |
| N2AB | 32630 | 98113;98114;98115 | chr2:178533804;178533803;178533802 | chr2:179398531;179398530;179398529 |
| N2A | 31703 | 95332;95333;95334 | chr2:178533804;178533803;178533802 | chr2:179398531;179398530;179398529 |
| N2B | 25206 | 75841;75842;75843 | chr2:178533804;178533803;178533802 | chr2:179398531;179398530;179398529 |
| Novex-1 | 25331 | 76216;76217;76218 | chr2:178533804;178533803;178533802 | chr2:179398531;179398530;179398529 |
| Novex-2 | 25398 | 76417;76418;76419 | chr2:178533804;178533803;178533802 | chr2:179398531;179398530;179398529 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.09 | N | 0.306 | 0.147 | 0.278143212241 | gnomAD-4.0.0 | 1.59095E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| V/I | rs794727542  |
-0.102 | None | N | 0.095 | 0.06 | 0.104622674875 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs794727542 |
-0.102 | None | N | 0.095 | 0.06 | 0.104622674875 | gnomAD-4.0.0 | 2.73664E-06 | None | None | None | None | N | None | 0 | 2.23614E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.96952E-05 |
| V/L | rs794727542 |
-0.079 | 0.015 | N | 0.244 | 0.049 | 0.112648838833 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| V/L | rs794727542 |
-0.079 | 0.015 | N | 0.244 | 0.049 | 0.112648838833 | gnomAD-4.0.0 | 2.05248E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69824E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1094 | likely_benign | 0.1219 | benign | -0.813 | Destabilizing | 0.09 | N | 0.306 | neutral | N | 0.41710022 | None | None | N |
| V/C | 0.6521 | likely_pathogenic | 0.7464 | pathogenic | -0.696 | Destabilizing | 0.981 | D | 0.271 | neutral | None | None | None | None | N |
| V/D | 0.3335 | likely_benign | 0.427 | ambiguous | -0.129 | Destabilizing | 0.69 | D | 0.377 | neutral | None | None | None | None | N |
| V/E | 0.2012 | likely_benign | 0.219 | benign | -0.203 | Destabilizing | 0.627 | D | 0.353 | neutral | N | 0.374402662 | None | None | N |
| V/F | 0.1616 | likely_benign | 0.2349 | benign | -0.791 | Destabilizing | 0.69 | D | 0.304 | neutral | None | None | None | None | N |
| V/G | 0.2637 | likely_benign | 0.3419 | ambiguous | -1.019 | Destabilizing | 0.324 | N | 0.383 | neutral | N | 0.460588461 | None | None | N |
| V/H | 0.4718 | ambiguous | 0.5854 | pathogenic | -0.542 | Destabilizing | 0.981 | D | 0.355 | neutral | None | None | None | None | N |
| V/I | 0.0643 | likely_benign | 0.0685 | benign | -0.398 | Destabilizing | None | N | 0.095 | neutral | N | 0.415716141 | None | None | N |
| V/K | 0.2453 | likely_benign | 0.2902 | benign | -0.561 | Destabilizing | 0.69 | D | 0.354 | neutral | None | None | None | None | N |
| V/L | 0.1347 | likely_benign | 0.1751 | benign | -0.398 | Destabilizing | 0.015 | N | 0.244 | neutral | N | 0.423506118 | None | None | N |
| V/M | 0.1128 | likely_benign | 0.1442 | benign | -0.358 | Destabilizing | 0.69 | D | 0.302 | neutral | None | None | None | None | N |
| V/N | 0.2524 | likely_benign | 0.3542 | ambiguous | -0.296 | Destabilizing | 0.69 | D | 0.389 | neutral | None | None | None | None | N |
| V/P | 0.3433 | ambiguous | 0.3859 | ambiguous | -0.499 | Destabilizing | 0.818 | D | 0.373 | neutral | None | None | None | None | N |
| V/Q | 0.2483 | likely_benign | 0.2844 | benign | -0.505 | Destabilizing | 0.818 | D | 0.355 | neutral | None | None | None | None | N |
| V/R | 0.2031 | likely_benign | 0.2619 | benign | -0.092 | Destabilizing | 0.69 | D | 0.389 | neutral | None | None | None | None | N |
| V/S | 0.1791 | likely_benign | 0.2231 | benign | -0.805 | Destabilizing | 0.241 | N | 0.338 | neutral | None | None | None | None | N |
| V/T | 0.1253 | likely_benign | 0.1462 | benign | -0.77 | Destabilizing | 0.008 | N | 0.121 | neutral | None | None | None | None | N |
| V/W | 0.7176 | likely_pathogenic | 0.8328 | pathogenic | -0.874 | Destabilizing | 0.981 | D | 0.434 | neutral | None | None | None | None | N |
| V/Y | 0.4905 | ambiguous | 0.6067 | pathogenic | -0.573 | Destabilizing | 0.818 | D | 0.293 | neutral | 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.