Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34191 | 102796;102797;102798 | chr2:178534044;178534043;178534042 | chr2:179398771;179398770;179398769 |
| N2AB | 32550 | 97873;97874;97875 | chr2:178534044;178534043;178534042 | chr2:179398771;179398770;179398769 |
| N2A | 31623 | 95092;95093;95094 | chr2:178534044;178534043;178534042 | chr2:179398771;179398770;179398769 |
| N2B | 25126 | 75601;75602;75603 | chr2:178534044;178534043;178534042 | chr2:179398771;179398770;179398769 |
| Novex-1 | 25251 | 75976;75977;75978 | chr2:178534044;178534043;178534042 | chr2:179398771;179398770;179398769 |
| Novex-2 | 25318 | 76177;76178;76179 | chr2:178534044;178534043;178534042 | chr2:179398771;179398770;179398769 |
| 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/G | None | None | 0.055 | N | 0.617 | 0.292 | 0.623427226985 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-06 | 0 | 0 |
| V/M | None | None | 0.005 | N | 0.244 | 0.073 | 0.29527378943 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.226 | likely_benign | 0.2365 | benign | -1.73 | Destabilizing | 0.012 | N | 0.399 | neutral | N | 0.48986334 | None | None | N |
| V/C | 0.7393 | likely_pathogenic | 0.7779 | pathogenic | -1.009 | Destabilizing | 0.864 | D | 0.561 | neutral | None | None | None | None | N |
| V/D | 0.3658 | ambiguous | 0.3812 | ambiguous | -1.923 | Destabilizing | 0.214 | N | 0.615 | neutral | None | None | None | None | N |
| V/E | 0.2323 | likely_benign | 0.2389 | benign | -1.821 | Destabilizing | 0.029 | N | 0.607 | neutral | N | 0.475085889 | None | None | N |
| V/F | 0.168 | likely_benign | 0.1792 | benign | -1.153 | Destabilizing | None | N | 0.208 | neutral | None | None | None | None | N |
| V/G | 0.3833 | ambiguous | 0.3967 | ambiguous | -2.153 | Highly Destabilizing | 0.055 | N | 0.617 | neutral | N | 0.490556774 | None | None | N |
| V/H | 0.4781 | ambiguous | 0.487 | ambiguous | -1.884 | Destabilizing | 0.507 | D | 0.597 | neutral | None | None | None | None | N |
| V/I | 0.0823 | likely_benign | 0.0866 | benign | -0.612 | Destabilizing | 0.016 | N | 0.397 | neutral | None | None | None | None | N |
| V/K | 0.2512 | likely_benign | 0.2531 | benign | -1.479 | Destabilizing | 0.038 | N | 0.605 | neutral | None | None | None | None | N |
| V/L | 0.2234 | likely_benign | 0.2399 | benign | -0.612 | Destabilizing | None | N | 0.117 | neutral | N | 0.4518651 | None | None | N |
| V/M | 0.126 | likely_benign | 0.1387 | benign | -0.393 | Destabilizing | 0.005 | N | 0.244 | neutral | N | 0.483265442 | None | None | N |
| V/N | 0.222 | likely_benign | 0.2257 | benign | -1.445 | Destabilizing | 0.214 | N | 0.617 | neutral | None | None | None | None | N |
| V/P | 0.9681 | likely_pathogenic | 0.9678 | pathogenic | -0.953 | Destabilizing | 0.356 | N | 0.598 | neutral | None | None | None | None | N |
| V/Q | 0.2781 | likely_benign | 0.2903 | benign | -1.465 | Destabilizing | 0.001 | N | 0.397 | neutral | None | None | None | None | N |
| V/R | 0.2487 | likely_benign | 0.2481 | benign | -1.107 | Destabilizing | 0.12 | N | 0.615 | neutral | None | None | None | None | N |
| V/S | 0.2307 | likely_benign | 0.2362 | benign | -1.998 | Destabilizing | 0.038 | N | 0.566 | neutral | None | None | None | None | N |
| V/T | 0.158 | likely_benign | 0.1625 | benign | -1.78 | Destabilizing | 0.072 | N | 0.389 | neutral | None | None | None | None | N |
| V/W | 0.8137 | likely_pathogenic | 0.8348 | pathogenic | -1.579 | Destabilizing | 0.864 | D | 0.605 | neutral | None | None | None | None | N |
| V/Y | 0.4648 | ambiguous | 0.4654 | ambiguous | -1.218 | Destabilizing | 0.038 | N | 0.591 | 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.