Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5957 | 18094;18095;18096 | chr2:178730664;178730663;178730662 | chr2:179595391;179595390;179595389 |
| N2AB | 5640 | 17143;17144;17145 | chr2:178730664;178730663;178730662 | chr2:179595391;179595390;179595389 |
| N2A | 4713 | 14362;14363;14364 | chr2:178730664;178730663;178730662 | chr2:179595391;179595390;179595389 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs201672969  |
0.438 | 0.101 | N | 0.295 | 0.092 | 0.243972157842 | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.14E-05 | 0 |
| Q/E | rs201672969 |
0.438 | 0.101 | N | 0.295 | 0.092 | 0.243972157842 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 1.44921E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| Q/E | rs201672969 |
0.438 | 0.101 | N | 0.295 | 0.092 | 0.243972157842 | gnomAD-4.0.0 | 5.76398E-05 | None | None | None | None | N | None | 1.20228E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 6.95092E-05 | 0 | 3.20318E-05 |
| Q/H | rs181067357 |
-0.337 | 0.794 | N | 0.307 | 0.333 | 0.290590437066 | gnomAD-2.1.1 | 2.25512E-04 | None | None | None | None | N | None | 0 | 0 | None | 1.54949E-03 | 0 | None | 9.81E-05 | None | 0 | 3.06382E-04 | 7.02642E-04 |
| Q/H | rs181067357 |
-0.337 | 0.794 | N | 0.307 | 0.333 | 0.290590437066 | gnomAD-3.1.2 | 1.97202E-04 | None | None | None | None | N | None | 0 | 0 | 0 | 1.44009E-03 | 0 | None | 1.88537E-04 | 0 | 3.38215E-04 | 0 | 0 |
| Q/H | rs181067357 |
-0.337 | 0.794 | N | 0.307 | 0.333 | 0.290590437066 | gnomAD-4.0.0 | 1.87767E-04 | None | None | None | None | N | None | 1.33273E-05 | 0 | None | 1.31775E-03 | 0 | None | 1.87494E-04 | 0 | 1.97508E-04 | 4.39155E-05 | 2.241E-04 |
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 | 0.1963 | likely_benign | 0.1857 | benign | -0.222 | Destabilizing | 0.129 | N | 0.343 | neutral | None | None | None | None | N |
| Q/C | 0.4711 | ambiguous | 0.4161 | ambiguous | 0.11 | Stabilizing | 0.983 | D | 0.294 | neutral | None | None | None | None | N |
| Q/D | 0.2992 | likely_benign | 0.2824 | benign | 0.011 | Stabilizing | 0.418 | N | 0.261 | neutral | None | None | None | None | N |
| Q/E | 0.0771 | likely_benign | 0.0784 | benign | -0.002 | Destabilizing | 0.101 | N | 0.295 | neutral | N | 0.464967683 | None | None | N |
| Q/F | 0.5188 | ambiguous | 0.4899 | ambiguous | -0.364 | Destabilizing | 0.836 | D | 0.313 | neutral | None | None | None | None | N |
| Q/G | 0.2716 | likely_benign | 0.258 | benign | -0.429 | Destabilizing | 0.418 | N | 0.343 | neutral | None | None | None | None | N |
| Q/H | 0.1362 | likely_benign | 0.1267 | benign | -0.252 | Destabilizing | 0.794 | D | 0.307 | neutral | N | 0.476822259 | None | None | N |
| Q/I | 0.2116 | likely_benign | 0.216 | benign | 0.239 | Stabilizing | 0.264 | N | 0.354 | neutral | None | None | None | None | N |
| Q/K | 0.0609 | likely_benign | 0.0644 | benign | -0.036 | Destabilizing | None | N | 0.188 | neutral | N | 0.402841789 | None | None | N |
| Q/L | 0.1118 | likely_benign | 0.108 | benign | 0.239 | Stabilizing | 0.101 | N | 0.341 | neutral | N | 0.499275044 | None | None | N |
| Q/M | 0.2412 | likely_benign | 0.2327 | benign | 0.358 | Stabilizing | 0.836 | D | 0.301 | neutral | None | None | None | None | N |
| Q/N | 0.2183 | likely_benign | 0.2082 | benign | -0.373 | Destabilizing | 0.418 | N | 0.247 | neutral | None | None | None | None | N |
| Q/P | 0.7424 | likely_pathogenic | 0.7552 | pathogenic | 0.114 | Stabilizing | 0.523 | D | 0.341 | neutral | N | 0.503320193 | None | None | N |
| Q/R | 0.0759 | likely_benign | 0.074 | benign | 0.131 | Stabilizing | 0.101 | N | 0.303 | neutral | N | 0.478110338 | None | None | N |
| Q/S | 0.2285 | likely_benign | 0.2146 | benign | -0.36 | Destabilizing | 0.129 | N | 0.286 | neutral | None | None | None | None | N |
| Q/T | 0.1442 | likely_benign | 0.1391 | benign | -0.216 | Destabilizing | 0.418 | N | 0.331 | neutral | None | None | None | None | N |
| Q/V | 0.1533 | likely_benign | 0.1533 | benign | 0.114 | Stabilizing | 0.01 | N | 0.239 | neutral | None | None | None | None | N |
| Q/W | 0.421 | ambiguous | 0.3928 | ambiguous | -0.362 | Destabilizing | 0.983 | D | 0.308 | neutral | None | None | None | None | N |
| Q/Y | 0.3458 | ambiguous | 0.325 | benign | -0.11 | Destabilizing | 0.94 | D | 0.318 | 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.