Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32852 | 98779;98780;98781 | chr2:178539511;178539510;178539509 | chr2:179404238;179404237;179404236 |
| N2AB | 31211 | 93856;93857;93858 | chr2:178539511;178539510;178539509 | chr2:179404238;179404237;179404236 |
| N2A | 30284 | 91075;91076;91077 | chr2:178539511;178539510;178539509 | chr2:179404238;179404237;179404236 |
| N2B | 23787 | 71584;71585;71586 | chr2:178539511;178539510;178539509 | chr2:179404238;179404237;179404236 |
| Novex-1 | 23912 | 71959;71960;71961 | chr2:178539511;178539510;178539509 | chr2:179404238;179404237;179404236 |
| Novex-2 | 23979 | 72160;72161;72162 | chr2:178539511;178539510;178539509 | chr2:179404238;179404237;179404236 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | None | None | 0.001 | N | 0.221 | 0.187 | 0.128392430309 | gnomAD-4.0.0 | 1.59117E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85825E-06 | 0 | 0 |
| G/V | rs1693340480  |
None | 0.627 | N | 0.482 | 0.306 | 0.628842659243 | gnomAD-4.0.0 | 1.59121E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77254E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1964 | likely_benign | 0.1739 | benign | -0.287 | Destabilizing | 0.09 | N | 0.402 | neutral | N | 0.428955663 | None | None | N |
| G/C | 0.3567 | ambiguous | 0.3167 | benign | -0.597 | Destabilizing | 0.928 | D | 0.586 | neutral | N | 0.494353935 | None | None | N |
| G/D | 0.2154 | likely_benign | 0.2021 | benign | -0.158 | Destabilizing | 0.001 | N | 0.226 | neutral | N | 0.441730172 | None | None | N |
| G/E | 0.2383 | likely_benign | 0.2133 | benign | -0.182 | Destabilizing | 0.008 | N | 0.324 | neutral | None | None | None | None | N |
| G/F | 0.7625 | likely_pathogenic | 0.7317 | pathogenic | -0.593 | Destabilizing | 0.818 | D | 0.561 | neutral | None | None | None | None | N |
| G/H | 0.5313 | ambiguous | 0.5076 | ambiguous | -0.664 | Destabilizing | 0.944 | D | 0.513 | neutral | None | None | None | None | N |
| G/I | 0.5469 | ambiguous | 0.4963 | ambiguous | 0.085 | Stabilizing | 0.69 | D | 0.551 | neutral | None | None | None | None | N |
| G/K | 0.5725 | likely_pathogenic | 0.5451 | ambiguous | -0.612 | Destabilizing | 0.241 | N | 0.45 | neutral | None | None | None | None | N |
| G/L | 0.6242 | likely_pathogenic | 0.5777 | pathogenic | 0.085 | Stabilizing | 0.69 | D | 0.482 | neutral | None | None | None | None | N |
| G/M | 0.6419 | likely_pathogenic | 0.605 | pathogenic | -0.205 | Destabilizing | 0.981 | D | 0.553 | neutral | None | None | None | None | N |
| G/N | 0.2713 | likely_benign | 0.2523 | benign | -0.446 | Destabilizing | 0.241 | N | 0.403 | neutral | None | None | None | None | N |
| G/P | 0.9287 | likely_pathogenic | 0.9227 | pathogenic | 0.001 | Stabilizing | 0.818 | D | 0.49 | neutral | None | None | None | None | N |
| G/Q | 0.4161 | ambiguous | 0.3982 | ambiguous | -0.493 | Destabilizing | 0.69 | D | 0.45 | neutral | None | None | None | None | N |
| G/R | 0.5123 | ambiguous | 0.4831 | ambiguous | -0.464 | Destabilizing | 0.627 | D | 0.494 | neutral | N | 0.405945517 | None | None | N |
| G/S | 0.1383 | likely_benign | 0.1256 | benign | -0.765 | Destabilizing | 0.001 | N | 0.221 | neutral | N | 0.392821504 | None | None | N |
| G/T | 0.2268 | likely_benign | 0.2064 | benign | -0.676 | Destabilizing | 0.241 | N | 0.432 | neutral | None | None | None | None | N |
| G/V | 0.3582 | ambiguous | 0.3106 | benign | 0.001 | Stabilizing | 0.627 | D | 0.482 | neutral | N | 0.440538093 | None | None | N |
| G/W | 0.6294 | likely_pathogenic | 0.6016 | pathogenic | -0.963 | Destabilizing | 0.981 | D | 0.603 | neutral | None | None | None | None | N |
| G/Y | 0.606 | likely_pathogenic | 0.5629 | ambiguous | -0.467 | Destabilizing | 0.818 | D | 0.56 | 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.