Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14419 | 43480;43481;43482 | chr2:178632751;178632750;178632749 | chr2:179497478;179497477;179497476 |
| N2AB | 12778 | 38557;38558;38559 | chr2:178632751;178632750;178632749 | chr2:179497478;179497477;179497476 |
| N2A | 11851 | 35776;35777;35778 | chr2:178632751;178632750;178632749 | chr2:179497478;179497477;179497476 |
| N2B | 5354 | 16285;16286;16287 | chr2:178632751;178632750;178632749 | chr2:179497478;179497477;179497476 |
| Novex-1 | 5479 | 16660;16661;16662 | chr2:178632751;178632750;178632749 | chr2:179497478;179497477;179497476 |
| Novex-2 | 5546 | 16861;16862;16863 | chr2:178632751;178632750;178632749 | chr2:179497478;179497477;179497476 |
| 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 | 0.999 | N | 0.494 | 0.606 | 0.652303537738 | gnomAD-4.0.0 | 1.59267E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43312E-05 | 0 |
| V/I | rs529018517  |
-0.576 | 0.997 | D | 0.505 | 0.407 | 0.812223674915 | gnomAD-2.1.1 | 1.79211E-04 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.56965E-03 | None | 0 | 0 | 2.8177E-04 |
| V/I | rs529018517 |
-0.576 | 0.997 | D | 0.505 | 0.407 | 0.812223674915 | gnomAD-3.1.2 | 9.21E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.90216E-03 | 0 |
| V/I | rs529018517 |
-0.576 | 0.997 | D | 0.505 | 0.407 | 0.812223674915 | 1000 genomes | 5.99042E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 3.1E-03 | None |
| V/I | rs529018517 |
-0.576 | 0.997 | D | 0.505 | 0.407 | 0.812223674915 | gnomAD-4.0.0 | 1.04764E-04 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.80105E-03 | 8.00512E-05 |
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 | 0.4574 | ambiguous | 0.551 | ambiguous | -1.325 | Destabilizing | 0.999 | D | 0.494 | neutral | N | 0.514133588 | None | None | I |
| V/C | 0.91 | likely_pathogenic | 0.9181 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| V/D | 0.939 | likely_pathogenic | 0.9583 | pathogenic | -0.756 | Destabilizing | 1.0 | D | 0.748 | deleterious | D | 0.728148713 | None | None | I |
| V/E | 0.8958 | likely_pathogenic | 0.9313 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| V/F | 0.6622 | likely_pathogenic | 0.7524 | pathogenic | -0.807 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.726607082 | None | None | I |
| V/G | 0.5829 | likely_pathogenic | 0.6446 | pathogenic | -1.716 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.667064187 | None | None | I |
| V/H | 0.9727 | likely_pathogenic | 0.9791 | pathogenic | -1.29 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| V/I | 0.1287 | likely_benign | 0.1365 | benign | -0.328 | Destabilizing | 0.997 | D | 0.505 | neutral | D | 0.551101936 | None | None | I |
| V/K | 0.931 | likely_pathogenic | 0.9435 | pathogenic | -0.91 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| V/L | 0.6301 | likely_pathogenic | 0.6842 | pathogenic | -0.328 | Destabilizing | 0.997 | D | 0.513 | neutral | D | 0.661874022 | None | None | I |
| V/M | 0.5577 | ambiguous | 0.6036 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| V/N | 0.8726 | likely_pathogenic | 0.8966 | pathogenic | -0.79 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | I |
| V/P | 0.9855 | likely_pathogenic | 0.9903 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| V/Q | 0.9142 | likely_pathogenic | 0.9326 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| V/R | 0.891 | likely_pathogenic | 0.9073 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| V/S | 0.7046 | likely_pathogenic | 0.7581 | pathogenic | -1.442 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| V/T | 0.5162 | ambiguous | 0.5661 | pathogenic | -1.243 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | I |
| V/W | 0.9905 | likely_pathogenic | 0.9936 | pathogenic | -1.076 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | I |
| V/Y | 0.9399 | likely_pathogenic | 0.9602 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
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.