Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7092 | 21499;21500;21501 | chr2:178723985;178723984;178723983 | chr2:179588712;179588711;179588710 |
| N2AB | 6775 | 20548;20549;20550 | chr2:178723985;178723984;178723983 | chr2:179588712;179588711;179588710 |
| N2A | 5848 | 17767;17768;17769 | chr2:178723985;178723984;178723983 | chr2:179588712;179588711;179588710 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | None | None | None | N | 0.165 | 0.227 | 0.20549828249 | gnomAD-4.0.0 | 1.59188E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43295E-05 | 0 |
| T/S | rs1376550364  |
-0.928 | 0.003 | N | 0.136 | 0.053 | 0.144782658237 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| T/S | rs1376550364 |
-0.928 | 0.003 | N | 0.136 | 0.053 | 0.144782658237 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/S | rs1376550364 |
-0.928 | 0.003 | N | 0.136 | 0.053 | 0.144782658237 | gnomAD-4.0.0 | 2.02992E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40989E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0704 | likely_benign | 0.0746 | benign | -1.267 | Destabilizing | None | N | 0.055 | neutral | N | 0.470373503 | None | None | I |
| T/C | 0.389 | ambiguous | 0.4105 | ambiguous | -0.744 | Destabilizing | None | N | 0.194 | neutral | None | None | None | None | I |
| T/D | 0.3712 | ambiguous | 0.3751 | ambiguous | -0.44 | Destabilizing | 0.22 | N | 0.473 | neutral | None | None | None | None | I |
| T/E | 0.2717 | likely_benign | 0.2707 | benign | -0.397 | Destabilizing | 0.22 | N | 0.473 | neutral | None | None | None | None | I |
| T/F | 0.2308 | likely_benign | 0.214 | benign | -1.38 | Destabilizing | 0.22 | N | 0.627 | neutral | None | None | None | None | I |
| T/G | 0.2531 | likely_benign | 0.2611 | benign | -1.554 | Destabilizing | 0.055 | N | 0.369 | neutral | None | None | None | None | I |
| T/H | 0.2684 | likely_benign | 0.2552 | benign | -1.818 | Destabilizing | 0.859 | D | 0.567 | neutral | None | None | None | None | I |
| T/I | 0.149 | likely_benign | 0.1343 | benign | -0.573 | Destabilizing | None | N | 0.165 | neutral | N | 0.376999195 | None | None | I |
| T/K | 0.2315 | likely_benign | 0.2309 | benign | -0.726 | Destabilizing | 0.22 | N | 0.464 | neutral | None | None | None | None | I |
| T/L | 0.0882 | likely_benign | 0.0881 | benign | -0.573 | Destabilizing | 0.009 | N | 0.282 | neutral | None | None | None | None | I |
| T/M | 0.0784 | likely_benign | 0.0737 | benign | -0.151 | Destabilizing | 0.011 | N | 0.289 | neutral | None | None | None | None | I |
| T/N | 0.1289 | likely_benign | 0.128 | benign | -0.816 | Destabilizing | 0.175 | N | 0.379 | neutral | N | 0.487947736 | None | None | I |
| T/P | 0.1392 | likely_benign | 0.1564 | benign | -0.774 | Destabilizing | 0.001 | N | 0.219 | neutral | N | 0.484150876 | None | None | I |
| T/Q | 0.2284 | likely_benign | 0.2257 | benign | -0.939 | Destabilizing | 0.364 | N | 0.585 | neutral | None | None | None | None | I |
| T/R | 0.1828 | likely_benign | 0.1815 | benign | -0.577 | Destabilizing | 0.22 | N | 0.569 | neutral | None | None | None | None | I |
| T/S | 0.1148 | likely_benign | 0.1144 | benign | -1.169 | Destabilizing | 0.003 | N | 0.136 | neutral | N | 0.4698935 | None | None | I |
| T/V | 0.1234 | likely_benign | 0.118 | benign | -0.774 | Destabilizing | 0.025 | N | 0.252 | neutral | None | None | None | None | I |
| T/W | 0.5491 | ambiguous | 0.5247 | ambiguous | -1.264 | Destabilizing | 0.958 | D | 0.575 | neutral | None | None | None | None | I |
| T/Y | 0.2187 | likely_benign | 0.2172 | benign | -1.027 | Destabilizing | 0.667 | D | 0.633 | neutral | None | None | None | None | I |
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.