Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7048 | 21367;21368;21369 | chr2:178724117;178724116;178724115 | chr2:179588844;179588843;179588842 |
| N2AB | 6731 | 20416;20417;20418 | chr2:178724117;178724116;178724115 | chr2:179588844;179588843;179588842 |
| N2A | 5804 | 17635;17636;17637 | chr2:178724117;178724116;178724115 | chr2:179588844;179588843;179588842 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/L | rs148072021  |
0.466 | 0.975 | N | 0.54 | 0.433 | 0.587992605178 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9E-06 | 0 |
| R/L | rs148072021 |
0.466 | 0.975 | N | 0.54 | 0.433 | 0.587992605178 | gnomAD-4.0.0 | 2.73973E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60091E-06 | 0 | 0 |
| R/Q | rs148072021 |
0.156 | 0.997 | N | 0.573 | 0.272 | None | gnomAD-2.1.1 | 2.03E-05 | None | None | None | None | N | None | 6.48E-05 | 2.91E-05 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 1.8E-05 | 0 |
| R/Q | rs148072021 |
0.156 | 0.997 | N | 0.573 | 0.272 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/Q | rs148072021 |
0.156 | 0.997 | N | 0.573 | 0.272 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| R/Q | rs148072021 |
0.156 | 0.997 | N | 0.573 | 0.272 | None | gnomAD-4.0.0 | 6.20282E-06 | None | None | None | None | N | None | 4.00203E-05 | 1.66923E-05 | None | 0 | 0 | None | 0 | 1.65344E-04 | 2.54492E-06 | 1.10009E-05 | 1.60272E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.4258 | ambiguous | 0.4281 | ambiguous | -0.12 | Destabilizing | 0.953 | D | 0.551 | neutral | None | None | None | None | N |
| R/C | 0.248 | likely_benign | 0.2059 | benign | -0.212 | Destabilizing | 0.999 | D | 0.655 | neutral | None | None | None | None | N |
| R/D | 0.7175 | likely_pathogenic | 0.7544 | pathogenic | -0.061 | Destabilizing | 0.986 | D | 0.651 | neutral | None | None | None | None | N |
| R/E | 0.364 | ambiguous | 0.3694 | ambiguous | 0.021 | Stabilizing | 0.91 | D | 0.518 | neutral | None | None | None | None | N |
| R/F | 0.6175 | likely_pathogenic | 0.6315 | pathogenic | -0.204 | Destabilizing | 0.998 | D | 0.657 | neutral | None | None | None | None | N |
| R/G | 0.2547 | likely_benign | 0.2762 | benign | -0.356 | Destabilizing | 0.975 | D | 0.54 | neutral | D | 0.52514375 | None | None | N |
| R/H | 0.14 | likely_benign | 0.1283 | benign | -0.796 | Destabilizing | 0.998 | D | 0.599 | neutral | None | None | None | None | N |
| R/I | 0.3034 | likely_benign | 0.3273 | benign | 0.477 | Stabilizing | 0.993 | D | 0.675 | prob.neutral | None | None | None | None | N |
| R/K | 0.1202 | likely_benign | 0.1213 | benign | -0.194 | Destabilizing | 0.06 | N | 0.183 | neutral | None | None | None | None | N |
| R/L | 0.2894 | likely_benign | 0.2811 | benign | 0.477 | Stabilizing | 0.975 | D | 0.54 | neutral | N | 0.48918873 | None | None | N |
| R/M | 0.3029 | likely_benign | 0.3326 | benign | 0.033 | Stabilizing | 0.999 | D | 0.625 | neutral | None | None | None | None | N |
| R/N | 0.6193 | likely_pathogenic | 0.6505 | pathogenic | 0.11 | Stabilizing | 0.986 | D | 0.559 | neutral | None | None | None | None | N |
| R/P | 0.8455 | likely_pathogenic | 0.8784 | pathogenic | 0.3 | Stabilizing | 0.996 | D | 0.665 | neutral | N | 0.511180552 | None | None | N |
| R/Q | 0.1066 | likely_benign | 0.0974 | benign | -0.005 | Destabilizing | 0.997 | D | 0.573 | neutral | N | 0.497018599 | None | None | N |
| R/S | 0.4746 | ambiguous | 0.4869 | ambiguous | -0.324 | Destabilizing | 0.953 | D | 0.59 | neutral | None | None | None | None | N |
| R/T | 0.2698 | likely_benign | 0.2807 | benign | -0.093 | Destabilizing | 0.986 | D | 0.593 | neutral | None | None | None | None | N |
| R/V | 0.38 | ambiguous | 0.3844 | ambiguous | 0.3 | Stabilizing | 0.993 | D | 0.684 | prob.neutral | None | None | None | None | N |
| R/W | 0.186 | likely_benign | 0.1787 | benign | -0.155 | Destabilizing | 0.999 | D | 0.659 | neutral | None | None | None | None | N |
| R/Y | 0.4579 | ambiguous | 0.4404 | ambiguous | 0.223 | Stabilizing | 0.998 | D | 0.648 | 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.