Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26872 | 80839;80840;80841 | chr2:178565518;178565517;178565516 | chr2:179430245;179430244;179430243 |
| N2AB | 25231 | 75916;75917;75918 | chr2:178565518;178565517;178565516 | chr2:179430245;179430244;179430243 |
| N2A | 24304 | 73135;73136;73137 | chr2:178565518;178565517;178565516 | chr2:179430245;179430244;179430243 |
| N2B | 17807 | 53644;53645;53646 | chr2:178565518;178565517;178565516 | chr2:179430245;179430244;179430243 |
| Novex-1 | 17932 | 54019;54020;54021 | chr2:178565518;178565517;178565516 | chr2:179430245;179430244;179430243 |
| Novex-2 | 17999 | 54220;54221;54222 | chr2:178565518;178565517;178565516 | chr2:179430245;179430244;179430243 |
| 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 | rs1167097128  |
-0.997 | 0.027 | N | 0.224 | 0.168 | 0.483670899158 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| I/T | rs1167097128 |
-0.997 | 0.027 | N | 0.224 | 0.168 | 0.483670899158 | gnomAD-4.0.0 | 6.36752E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.14379E-05 | 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 | 0.3181 | likely_benign | 0.2889 | benign | -1.248 | Destabilizing | 0.898 | D | 0.478 | neutral | None | None | None | None | N |
| I/C | 0.7689 | likely_pathogenic | 0.7789 | pathogenic | -0.858 | Destabilizing | 0.999 | D | 0.389 | neutral | None | None | None | None | N |
| I/D | 0.823 | likely_pathogenic | 0.8196 | pathogenic | -0.637 | Destabilizing | 0.993 | D | 0.535 | neutral | None | None | None | None | N |
| I/E | 0.5915 | likely_pathogenic | 0.5946 | pathogenic | -0.663 | Destabilizing | 0.991 | D | 0.531 | neutral | None | None | None | None | N |
| I/F | 0.2081 | likely_benign | 0.1985 | benign | -0.85 | Destabilizing | 0.995 | D | 0.377 | neutral | None | None | None | None | N |
| I/G | 0.7884 | likely_pathogenic | 0.7706 | pathogenic | -1.523 | Destabilizing | 0.977 | D | 0.527 | neutral | None | None | None | None | N |
| I/H | 0.5758 | likely_pathogenic | 0.6037 | pathogenic | -0.648 | Destabilizing | 0.999 | D | 0.543 | neutral | None | None | None | None | N |
| I/K | 0.4057 | ambiguous | 0.4143 | ambiguous | -0.873 | Destabilizing | 0.771 | D | 0.536 | neutral | N | 0.516833724 | None | None | N |
| I/L | 0.1303 | likely_benign | 0.1294 | benign | -0.597 | Destabilizing | 0.079 | N | 0.357 | neutral | N | 0.48364387 | None | None | N |
| I/M | 0.1034 | likely_benign | 0.1001 | benign | -0.543 | Destabilizing | 0.977 | D | 0.416 | neutral | N | 0.484964632 | None | None | N |
| I/N | 0.3919 | ambiguous | 0.4015 | ambiguous | -0.725 | Destabilizing | 0.993 | D | 0.537 | neutral | None | None | None | None | N |
| I/P | 0.8312 | likely_pathogenic | 0.8129 | pathogenic | -0.781 | Destabilizing | 0.998 | D | 0.561 | neutral | None | None | None | None | N |
| I/Q | 0.4373 | ambiguous | 0.462 | ambiguous | -0.908 | Destabilizing | 0.995 | D | 0.566 | neutral | None | None | None | None | N |
| I/R | 0.3244 | likely_benign | 0.3345 | benign | -0.258 | Destabilizing | 0.979 | D | 0.565 | neutral | N | 0.517180441 | None | None | N |
| I/S | 0.3365 | likely_benign | 0.3406 | ambiguous | -1.288 | Destabilizing | 0.914 | D | 0.415 | neutral | None | None | None | None | N |
| I/T | 0.1197 | likely_benign | 0.1108 | benign | -1.198 | Destabilizing | 0.027 | N | 0.224 | neutral | N | 0.436561999 | None | None | N |
| I/V | 0.0779 | likely_benign | 0.0717 | benign | -0.781 | Destabilizing | 0.101 | N | 0.292 | neutral | N | 0.438122224 | None | None | N |
| I/W | 0.8228 | likely_pathogenic | 0.8295 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| I/Y | 0.595 | likely_pathogenic | 0.6252 | pathogenic | -0.668 | Destabilizing | 0.956 | D | 0.467 | 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.