Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35666 | 107221;107222;107223 | chr2:178528755;178528754;178528753 | chr2:179393482;179393481;179393480 |
| N2AB | 34025 | 102298;102299;102300 | chr2:178528755;178528754;178528753 | chr2:179393482;179393481;179393480 |
| N2A | 33098 | 99517;99518;99519 | chr2:178528755;178528754;178528753 | chr2:179393482;179393481;179393480 |
| N2B | 26601 | 80026;80027;80028 | chr2:178528755;178528754;178528753 | chr2:179393482;179393481;179393480 |
| Novex-1 | 26726 | 80401;80402;80403 | chr2:178528755;178528754;178528753 | chr2:179393482;179393481;179393480 |
| Novex-2 | 26793 | 80602;80603;80604 | chr2:178528755;178528754;178528753 | chr2:179393482;179393481;179393480 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs750660824  |
-1.935 | 0.019 | N | 0.382 | 0.054 | 0.0920862733494 | gnomAD-2.1.1 | 1.44E-05 | None | None | None | None | N | None | 4.19E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.36E-05 | 0 |
| Q/E | rs750660824 |
-1.935 | 0.019 | N | 0.382 | 0.054 | 0.0920862733494 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| Q/E | rs750660824 |
-1.935 | 0.019 | N | 0.382 | 0.054 | 0.0920862733494 | gnomAD-4.0.0 | 1.30299E-05 | None | None | None | None | N | None | 4.00662E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.35703E-05 | 0 | 3.20883E-05 |
| Q/K | None | -0.457 | None | N | 0.107 | 0.069 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 2.82859E-04 | 0 | 1.47E-05 | 0 | 0 |
| Q/K | None | -0.457 | None | N | 0.107 | 0.069 | None | gnomAD-4.0.0 | 2.35783E-05 | None | None | None | None | N | None | 1.33554E-05 | 3.35132E-05 | None | 0 | 6.70901E-05 | None | 2.04608E-04 | 0 | 1.27222E-05 | 0 | 6.41787E-05 |
| Q/R | None | None | 0.042 | N | 0.447 | 0.054 | 0.0846915920261 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2135 | likely_benign | 0.2034 | benign | -0.305 | Destabilizing | 0.025 | N | 0.46 | neutral | None | None | None | None | N |
| Q/C | 0.6744 | likely_pathogenic | 0.7846 | pathogenic | 0.248 | Stabilizing | 0.958 | D | 0.641 | neutral | None | None | None | None | N |
| Q/D | 0.2845 | likely_benign | 0.2916 | benign | -0.074 | Destabilizing | 0.104 | N | 0.442 | neutral | None | None | None | None | N |
| Q/E | 0.0812 | likely_benign | 0.0771 | benign | -0.089 | Destabilizing | 0.019 | N | 0.382 | neutral | N | 0.437235924 | None | None | N |
| Q/F | 0.6414 | likely_pathogenic | 0.6797 | pathogenic | -0.434 | Destabilizing | 0.859 | D | 0.66 | neutral | None | None | None | None | N |
| Q/G | 0.2383 | likely_benign | 0.2542 | benign | -0.526 | Destabilizing | 0.104 | N | 0.553 | neutral | None | None | None | None | N |
| Q/H | 0.1833 | likely_benign | 0.1951 | benign | -0.523 | Destabilizing | 0.602 | D | 0.581 | neutral | N | 0.438622791 | None | None | N |
| Q/I | 0.4224 | ambiguous | 0.4232 | ambiguous | 0.195 | Stabilizing | 0.364 | N | 0.687 | prob.neutral | None | None | None | None | N |
| Q/K | 0.0763 | likely_benign | 0.0764 | benign | 0.033 | Stabilizing | None | N | 0.107 | neutral | N | 0.406913017 | None | None | N |
| Q/L | 0.1655 | likely_benign | 0.1702 | benign | 0.195 | Stabilizing | 0.081 | N | 0.568 | neutral | N | 0.438969507 | None | None | N |
| Q/M | 0.359 | ambiguous | 0.3564 | ambiguous | 0.602 | Stabilizing | 0.859 | D | 0.581 | neutral | None | None | None | None | N |
| Q/N | 0.2021 | likely_benign | 0.2081 | benign | -0.279 | Destabilizing | 0.104 | N | 0.433 | neutral | None | None | None | None | N |
| Q/P | 0.3377 | likely_benign | 0.3379 | benign | 0.058 | Stabilizing | 0.301 | N | 0.573 | neutral | N | 0.438276074 | None | None | N |
| Q/R | 0.0979 | likely_benign | 0.1061 | benign | 0.164 | Stabilizing | 0.042 | N | 0.447 | neutral | N | 0.437929357 | None | None | N |
| Q/S | 0.2483 | likely_benign | 0.231 | benign | -0.306 | Destabilizing | 0.002 | N | 0.113 | neutral | None | None | None | None | N |
| Q/T | 0.1919 | likely_benign | 0.1862 | benign | -0.159 | Destabilizing | 0.055 | N | 0.553 | neutral | None | None | None | None | N |
| Q/V | 0.2989 | likely_benign | 0.2737 | benign | 0.058 | Stabilizing | 0.22 | N | 0.581 | neutral | None | None | None | None | N |
| Q/W | 0.4825 | ambiguous | 0.5608 | ambiguous | -0.372 | Destabilizing | 0.958 | D | 0.623 | neutral | None | None | None | None | N |
| Q/Y | 0.3961 | ambiguous | 0.4218 | ambiguous | -0.131 | Destabilizing | 0.859 | D | 0.637 | 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.