Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5945 | 18058;18059;18060 | chr2:178730700;178730699;178730698 | chr2:179595427;179595426;179595425 |
| N2AB | 5628 | 17107;17108;17109 | chr2:178730700;178730699;178730698 | chr2:179595427;179595426;179595425 |
| N2A | 4701 | 14326;14327;14328 | chr2:178730700;178730699;178730698 | chr2:179595427;179595426;179595425 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | rs776790387  |
0.03 | 0.973 | N | 0.485 | 0.358 | None | gnomAD-4.0.0 | 2.97189E-04 | None | None | None | None | I | None | 2.98972E-05 | 2.24095E-05 | None | 0 | 1.54149E-03 | None | 6.61336E-03 | 0 | 8.99638E-06 | 2.31927E-05 | 1.65926E-04 |
| S/P | rs776790387 |
0.071 | 0.999 | N | 0.631 | 0.517 | 0.524480850804 | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.36E-05 | 0 |
| S/P | rs776790387 |
0.071 | 0.999 | N | 0.631 | 0.517 | 0.524480850804 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.82E-05 | 0 | 0 |
| S/P | rs776790387 |
0.071 | 0.999 | N | 0.631 | 0.517 | 0.524480850804 | gnomAD-4.0.0 | 6.57329E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.73197E-05 | 0 | 4.8097E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.6128 | likely_pathogenic | 0.6867 | pathogenic | -0.244 | Destabilizing | 0.973 | D | 0.485 | neutral | N | 0.488819882 | None | None | I |
| S/C | 0.8415 | likely_pathogenic | 0.8864 | pathogenic | -0.172 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | I |
| S/D | 0.9699 | likely_pathogenic | 0.9698 | pathogenic | -0.023 | Destabilizing | 0.996 | D | 0.587 | neutral | None | None | None | None | I |
| S/E | 0.9822 | likely_pathogenic | 0.9838 | pathogenic | -0.096 | Destabilizing | 0.996 | D | 0.594 | neutral | None | None | None | None | I |
| S/F | 0.9573 | likely_pathogenic | 0.9676 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| S/G | 0.6703 | likely_pathogenic | 0.735 | pathogenic | -0.385 | Destabilizing | 0.996 | D | 0.514 | neutral | None | None | None | None | I |
| S/H | 0.9563 | likely_pathogenic | 0.9596 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | I |
| S/I | 0.948 | likely_pathogenic | 0.965 | pathogenic | 0.002 | Stabilizing | 0.998 | D | 0.692 | prob.neutral | None | None | None | None | I |
| S/K | 0.9959 | likely_pathogenic | 0.9966 | pathogenic | -0.548 | Destabilizing | 0.996 | D | 0.592 | neutral | None | None | None | None | I |
| S/L | 0.8589 | likely_pathogenic | 0.8987 | pathogenic | 0.002 | Stabilizing | 0.989 | D | 0.605 | neutral | N | 0.498076273 | None | None | I |
| S/M | 0.9103 | likely_pathogenic | 0.9264 | pathogenic | 0.038 | Stabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | I |
| S/N | 0.8461 | likely_pathogenic | 0.8732 | pathogenic | -0.165 | Destabilizing | 0.996 | D | 0.595 | neutral | None | None | None | None | I |
| S/P | 0.9801 | likely_pathogenic | 0.9879 | pathogenic | -0.05 | Destabilizing | 0.999 | D | 0.631 | neutral | N | 0.516940997 | None | None | I |
| S/Q | 0.9765 | likely_pathogenic | 0.98 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | I |
| S/R | 0.9923 | likely_pathogenic | 0.9944 | pathogenic | -0.322 | Destabilizing | 0.999 | D | 0.626 | neutral | None | None | None | None | I |
| S/T | 0.4332 | ambiguous | 0.4707 | ambiguous | -0.223 | Destabilizing | 0.543 | D | 0.327 | neutral | N | 0.520551607 | None | None | I |
| S/V | 0.943 | likely_pathogenic | 0.9608 | pathogenic | -0.05 | Destabilizing | 0.998 | D | 0.605 | neutral | None | None | None | None | I |
| S/W | 0.9574 | likely_pathogenic | 0.9655 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | I |
| S/Y | 0.926 | likely_pathogenic | 0.944 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | 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.