Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 145 | 658;659;660 | chr2:178800545;178800544;178800543 | chr2:179665272;179665271;179665270 |
| N2AB | 145 | 658;659;660 | chr2:178800545;178800544;178800543 | chr2:179665272;179665271;179665270 |
| N2A | 145 | 658;659;660 | chr2:178800545;178800544;178800543 | chr2:179665272;179665271;179665270 |
| N2B | 145 | 658;659;660 | chr2:178800545;178800544;178800543 | chr2:179665272;179665271;179665270 |
| Novex-1 | 145 | 658;659;660 | chr2:178800545;178800544;178800543 | chr2:179665272;179665271;179665270 |
| Novex-2 | 145 | 658;659;660 | chr2:178800545;178800544;178800543 | chr2:179665272;179665271;179665270 |
| Novex-3 | 145 | 658;659;660 | chr2:178800545;178800544;178800543 | chr2:179665272;179665271;179665270 |
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/K | None | None | 0.001 | N | 0.239 | 0.23 | 0.167679373172 | gnomAD-4.0.0 | 1.59047E-06 | None | None | None | -0.216(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85649E-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 | 0.3312 | likely_benign | 0.3589 | ambiguous | -0.068 | Destabilizing | 0.252 | N | 0.381 | neutral | None | None | None | -0.052(TCAP) | N |
| Q/C | 0.9461 | likely_pathogenic | 0.9556 | pathogenic | -0.192 | Destabilizing | 0.953 | D | 0.349 | neutral | None | None | None | 0.348(TCAP) | N |
| Q/D | 0.6542 | likely_pathogenic | 0.7612 | pathogenic | -0.174 | Destabilizing | 0.197 | N | 0.325 | neutral | None | None | None | 0.211(TCAP) | N |
| Q/E | 0.1267 | likely_benign | 0.1583 | benign | -0.228 | Destabilizing | 0.05 | N | 0.349 | neutral | N | 0.474219744 | None | 0.191(TCAP) | N |
| Q/F | 0.8856 | likely_pathogenic | 0.9165 | pathogenic | -0.506 | Destabilizing | 0.615 | D | 0.357 | neutral | None | None | None | -0.087(TCAP) | N |
| Q/G | 0.5285 | ambiguous | 0.5951 | pathogenic | -0.159 | Destabilizing | 0.45 | N | 0.392 | neutral | None | None | None | -0.088(TCAP) | N |
| Q/H | 0.5017 | ambiguous | 0.5726 | pathogenic | 0.041 | Stabilizing | 0.001 | N | 0.27 | neutral | N | 0.500419745 | None | 0.177(TCAP) | N |
| Q/I | 0.6173 | likely_pathogenic | 0.6697 | pathogenic | 0.073 | Stabilizing | 0.698 | D | 0.366 | neutral | None | None | None | 0.05(TCAP) | N |
| Q/K | 0.1731 | likely_benign | 0.2178 | benign | -0.032 | Destabilizing | 0.001 | N | 0.239 | neutral | N | 0.412426662 | None | -0.216(TCAP) | N |
| Q/L | 0.2873 | likely_benign | 0.3316 | benign | 0.073 | Stabilizing | 0.197 | N | 0.386 | neutral | N | 0.449861219 | None | 0.05(TCAP) | N |
| Q/M | 0.6167 | likely_pathogenic | 0.6375 | pathogenic | 0.021 | Stabilizing | 0.876 | D | 0.353 | neutral | None | None | None | 0.811(TCAP) | N |
| Q/N | 0.5189 | ambiguous | 0.5798 | pathogenic | -0.358 | Destabilizing | 0.11 | N | 0.329 | neutral | None | None | None | -0.492(TCAP) | N |
| Q/P | 0.2404 | likely_benign | 0.308 | benign | 0.049 | Stabilizing | 0.569 | D | 0.344 | neutral | N | 0.47039049 | None | 0.018(TCAP) | N |
| Q/R | 0.185 | likely_benign | 0.2396 | benign | 0.149 | Stabilizing | 0.001 | N | 0.293 | neutral | N | 0.481148813 | None | -0.306(TCAP) | N |
| Q/S | 0.3614 | ambiguous | 0.3943 | ambiguous | -0.307 | Destabilizing | 0.45 | N | 0.313 | neutral | None | None | None | -0.541(TCAP) | N |
| Q/T | 0.3078 | likely_benign | 0.3391 | benign | -0.242 | Destabilizing | 0.031 | N | 0.406 | neutral | None | None | None | -0.477(TCAP) | N |
| Q/V | 0.4335 | ambiguous | 0.4796 | ambiguous | 0.049 | Stabilizing | 0.166 | N | 0.359 | neutral | None | None | None | 0.018(TCAP) | N |
| Q/W | 0.8842 | likely_pathogenic | 0.9337 | pathogenic | -0.6 | Destabilizing | 0.99 | D | 0.369 | neutral | None | None | None | -0.087(TCAP) | N |
| Q/Y | 0.8083 | likely_pathogenic | 0.8685 | pathogenic | -0.297 | Destabilizing | 0.444 | N | 0.347 | neutral | None | None | None | 0.027(TCAP) | 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.