Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2529 | 7810;7811;7812 | chr2:178773471;178773470;178773469 | chr2:179638198;179638197;179638196 |
| N2AB | 2529 | 7810;7811;7812 | chr2:178773471;178773470;178773469 | chr2:179638198;179638197;179638196 |
| N2A | 2529 | 7810;7811;7812 | chr2:178773471;178773470;178773469 | chr2:179638198;179638197;179638196 |
| N2B | 2483 | 7672;7673;7674 | chr2:178773471;178773470;178773469 | chr2:179638198;179638197;179638196 |
| Novex-1 | 2483 | 7672;7673;7674 | chr2:178773471;178773470;178773469 | chr2:179638198;179638197;179638196 |
| Novex-2 | 2483 | 7672;7673;7674 | chr2:178773471;178773470;178773469 | chr2:179638198;179638197;179638196 |
| Novex-3 | 2529 | 7810;7811;7812 | chr2:178773471;178773470;178773469 | chr2:179638198;179638197;179638196 |
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/F | rs1474453684  |
-0.872 | 0.773 | N | 0.401 | 0.257 | 0.43923137753 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.45E-05 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/F | rs1474453684 |
-0.872 | 0.773 | N | 0.401 | 0.257 | 0.43923137753 | gnomAD-4.0.0 | 4.77266E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77516E-05 | None | 0 | 0 | 0 | 2.86558E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0831 | likely_benign | 0.0759 | benign | -0.586 | Destabilizing | 0.041 | N | 0.191 | neutral | N | 0.44354285 | None | None | N |
| S/C | 0.1172 | likely_benign | 0.1071 | benign | -0.449 | Destabilizing | 0.928 | D | 0.333 | neutral | N | 0.452767565 | None | None | N |
| S/D | 0.3359 | likely_benign | 0.3161 | benign | -0.336 | Destabilizing | 0.388 | N | 0.306 | neutral | None | None | None | None | N |
| S/E | 0.3704 | ambiguous | 0.3398 | benign | -0.379 | Destabilizing | 0.388 | N | 0.305 | neutral | None | None | None | None | N |
| S/F | 0.1456 | likely_benign | 0.1365 | benign | -0.891 | Destabilizing | 0.773 | D | 0.401 | neutral | N | 0.446690779 | None | None | N |
| S/G | 0.146 | likely_benign | 0.1387 | benign | -0.791 | Destabilizing | 0.207 | N | 0.297 | neutral | None | None | None | None | N |
| S/H | 0.1852 | likely_benign | 0.1775 | benign | -1.336 | Destabilizing | 0.932 | D | 0.333 | neutral | None | None | None | None | N |
| S/I | 0.128 | likely_benign | 0.1095 | benign | -0.16 | Destabilizing | 0.241 | N | 0.319 | neutral | None | None | None | None | N |
| S/K | 0.3333 | likely_benign | 0.3079 | benign | -0.777 | Destabilizing | 0.388 | N | 0.301 | neutral | None | None | None | None | N |
| S/L | 0.0878 | likely_benign | 0.0821 | benign | -0.16 | Destabilizing | 0.116 | N | 0.332 | neutral | None | None | None | None | N |
| S/M | 0.1569 | likely_benign | 0.1372 | benign | 0.168 | Stabilizing | 0.818 | D | 0.337 | neutral | None | None | None | None | N |
| S/N | 0.1208 | likely_benign | 0.1126 | benign | -0.624 | Destabilizing | 0.388 | N | 0.337 | neutral | None | None | None | None | N |
| S/P | 0.7677 | likely_pathogenic | 0.7674 | pathogenic | -0.269 | Destabilizing | 0.492 | N | 0.307 | neutral | N | 0.475236508 | None | None | N |
| S/Q | 0.3218 | likely_benign | 0.3023 | benign | -0.86 | Destabilizing | 0.818 | D | 0.349 | neutral | None | None | None | None | N |
| S/R | 0.2814 | likely_benign | 0.267 | benign | -0.58 | Destabilizing | 0.388 | N | 0.344 | neutral | None | None | None | None | N |
| S/T | 0.061 | likely_benign | 0.0542 | benign | -0.659 | Destabilizing | None | N | 0.104 | neutral | N | 0.358972105 | None | None | N |
| S/V | 0.1467 | likely_benign | 0.1281 | benign | -0.269 | Destabilizing | 0.116 | N | 0.342 | neutral | None | None | None | None | N |
| S/W | 0.2515 | likely_benign | 0.235 | benign | -0.866 | Destabilizing | 0.981 | D | 0.458 | neutral | None | None | None | None | N |
| S/Y | 0.1419 | likely_benign | 0.1322 | benign | -0.613 | Destabilizing | 0.773 | D | 0.395 | neutral | N | 0.449112464 | 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.