Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25019 | 75280;75281;75282 | chr2:178571077;178571076;178571075 | chr2:179435804;179435803;179435802 |
| N2AB | 23378 | 70357;70358;70359 | chr2:178571077;178571076;178571075 | chr2:179435804;179435803;179435802 |
| N2A | 22451 | 67576;67577;67578 | chr2:178571077;178571076;178571075 | chr2:179435804;179435803;179435802 |
| N2B | 15954 | 48085;48086;48087 | chr2:178571077;178571076;178571075 | chr2:179435804;179435803;179435802 |
| Novex-1 | 16079 | 48460;48461;48462 | chr2:178571077;178571076;178571075 | chr2:179435804;179435803;179435802 |
| Novex-2 | 16146 | 48661;48662;48663 | chr2:178571077;178571076;178571075 | chr2:179435804;179435803;179435802 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/K | None | None | 0.79 | N | 0.359 | 0.372 | 0.347659731818 | gnomAD-4.0.0 | 1.36908E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.04134E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/R | None | None | 0.995 | N | 0.685 | 0.4 | 0.411401001288 | gnomAD-4.0.0 | 4.10723E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39931E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2774 | likely_benign | 0.2434 | benign | -0.74 | Destabilizing | 0.992 | D | 0.43 | neutral | N | 0.46210135 | None | None | N |
| T/C | 0.742 | likely_pathogenic | 0.6724 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
| T/D | 0.6698 | likely_pathogenic | 0.6215 | pathogenic | -1.49 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| T/E | 0.7086 | likely_pathogenic | 0.6533 | pathogenic | -1.45 | Destabilizing | 0.994 | D | 0.641 | neutral | None | None | None | None | N |
| T/F | 0.7601 | likely_pathogenic | 0.7026 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| T/G | 0.3328 | likely_benign | 0.2808 | benign | -1.01 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| T/H | 0.4689 | ambiguous | 0.415 | ambiguous | -1.384 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| T/I | 0.8474 | likely_pathogenic | 0.8083 | pathogenic | -0.105 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.495956456 | None | None | N |
| T/K | 0.2939 | likely_benign | 0.2522 | benign | -0.87 | Destabilizing | 0.79 | D | 0.359 | neutral | N | 0.50381042 | None | None | N |
| T/L | 0.3829 | ambiguous | 0.3384 | benign | -0.105 | Destabilizing | 0.997 | D | 0.598 | neutral | None | None | None | None | N |
| T/M | 0.2546 | likely_benign | 0.231 | benign | 0.185 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| T/N | 0.2078 | likely_benign | 0.1795 | benign | -1.155 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | N |
| T/P | 0.817 | likely_pathogenic | 0.7795 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.518073183 | None | None | N |
| T/Q | 0.4059 | ambiguous | 0.358 | ambiguous | -1.352 | Destabilizing | 0.998 | D | 0.733 | prob.delet. | None | None | None | None | N |
| T/R | 0.3092 | likely_benign | 0.2591 | benign | -0.637 | Destabilizing | 0.995 | D | 0.685 | prob.neutral | N | 0.511256467 | None | None | N |
| T/S | 0.1472 | likely_benign | 0.1372 | benign | -1.241 | Destabilizing | 0.992 | D | 0.442 | neutral | N | 0.45643776 | None | None | N |
| T/V | 0.6999 | likely_pathogenic | 0.6523 | pathogenic | -0.285 | Destabilizing | 0.997 | D | 0.524 | neutral | None | None | None | None | N |
| T/W | 0.9246 | likely_pathogenic | 0.8911 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| T/Y | 0.7182 | likely_pathogenic | 0.6463 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.761 | deleterious | 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.