Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24740 | 74443;74444;74445 | chr2:178571914;178571913;178571912 | chr2:179436641;179436640;179436639 |
| N2AB | 23099 | 69520;69521;69522 | chr2:178571914;178571913;178571912 | chr2:179436641;179436640;179436639 |
| N2A | 22172 | 66739;66740;66741 | chr2:178571914;178571913;178571912 | chr2:179436641;179436640;179436639 |
| N2B | 15675 | 47248;47249;47250 | chr2:178571914;178571913;178571912 | chr2:179436641;179436640;179436639 |
| Novex-1 | 15800 | 47623;47624;47625 | chr2:178571914;178571913;178571912 | chr2:179436641;179436640;179436639 |
| Novex-2 | 15867 | 47824;47825;47826 | chr2:178571914;178571913;178571912 | chr2:179436641;179436640;179436639 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs773198304  |
-1.314 | None | N | 0.171 | 0.107 | 0.453772157364 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 5.61E-05 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs773198304 |
-1.314 | None | N | 0.171 | 0.107 | 0.453772157364 | gnomAD-4.0.0 | 3.18458E-06 | None | None | None | None | N | None | 0 | 2.28749E-05 | None | 0 | 2.78118E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1255 | likely_benign | 0.1251 | benign | -1.135 | Destabilizing | None | N | 0.149 | neutral | None | None | None | None | N |
| I/C | 0.5053 | ambiguous | 0.5149 | ambiguous | -0.851 | Destabilizing | 0.356 | N | 0.317 | neutral | None | None | None | None | N |
| I/D | 0.507 | ambiguous | 0.5448 | ambiguous | -0.329 | Destabilizing | 0.072 | N | 0.377 | neutral | None | None | None | None | N |
| I/E | 0.3696 | ambiguous | 0.4178 | ambiguous | -0.318 | Destabilizing | 0.072 | N | 0.333 | neutral | None | None | None | None | N |
| I/F | 0.1281 | likely_benign | 0.1171 | benign | -0.63 | Destabilizing | 0.055 | N | 0.316 | neutral | N | 0.472837805 | None | None | N |
| I/G | 0.4422 | ambiguous | 0.427 | ambiguous | -1.429 | Destabilizing | 0.031 | N | 0.299 | neutral | None | None | None | None | N |
| I/H | 0.2922 | likely_benign | 0.3124 | benign | -0.458 | Destabilizing | 0.356 | N | 0.35 | neutral | None | None | None | None | N |
| I/K | 0.2275 | likely_benign | 0.2571 | benign | -0.72 | Destabilizing | 0.016 | N | 0.333 | neutral | None | None | None | None | N |
| I/L | 0.0872 | likely_benign | 0.0837 | benign | -0.416 | Destabilizing | 0.002 | N | 0.185 | neutral | N | 0.48137993 | None | None | N |
| I/M | 0.0872 | likely_benign | 0.0853 | benign | -0.543 | Destabilizing | 0.171 | N | 0.347 | neutral | D | 0.531923394 | None | None | N |
| I/N | 0.1868 | likely_benign | 0.2009 | benign | -0.65 | Destabilizing | 0.055 | N | 0.405 | neutral | N | 0.472144371 | None | None | N |
| I/P | 0.7538 | likely_pathogenic | 0.7152 | pathogenic | -0.624 | Destabilizing | 0.136 | N | 0.399 | neutral | None | None | None | None | N |
| I/Q | 0.2499 | likely_benign | 0.2738 | benign | -0.75 | Destabilizing | 0.214 | N | 0.445 | neutral | None | None | None | None | N |
| I/R | 0.1476 | likely_benign | 0.1691 | benign | -0.21 | Destabilizing | None | N | 0.383 | neutral | None | None | None | None | N |
| I/S | 0.1138 | likely_benign | 0.1222 | benign | -1.264 | Destabilizing | 0.012 | N | 0.288 | neutral | N | 0.410439765 | None | None | N |
| I/T | 0.0646 | likely_benign | 0.0665 | benign | -1.127 | Destabilizing | None | N | 0.171 | neutral | N | 0.42991096 | None | None | N |
| I/V | 0.0609 | likely_benign | 0.0624 | benign | -0.624 | Destabilizing | None | N | 0.073 | neutral | N | 0.420062112 | None | None | N |
| I/W | 0.653 | likely_pathogenic | 0.6167 | pathogenic | -0.678 | Destabilizing | 0.864 | D | 0.36 | neutral | None | None | None | None | N |
| I/Y | 0.3701 | ambiguous | 0.3846 | ambiguous | -0.447 | Destabilizing | 0.356 | N | 0.425 | 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.