Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28321 | 85186;85187;85188 | chr2:178561171;178561170;178561169 | chr2:179425898;179425897;179425896 |
| N2AB | 26680 | 80263;80264;80265 | chr2:178561171;178561170;178561169 | chr2:179425898;179425897;179425896 |
| N2A | 25753 | 77482;77483;77484 | chr2:178561171;178561170;178561169 | chr2:179425898;179425897;179425896 |
| N2B | 19256 | 57991;57992;57993 | chr2:178561171;178561170;178561169 | chr2:179425898;179425897;179425896 |
| Novex-1 | 19381 | 58366;58367;58368 | chr2:178561171;178561170;178561169 | chr2:179425898;179425897;179425896 |
| Novex-2 | 19448 | 58567;58568;58569 | chr2:178561171;178561170;178561169 | chr2:179425898;179425897;179425896 |
| 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/R | rs760149145  |
-0.548 | 0.961 | N | 0.412 | 0.133 | 0.143124449307 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11694E-04 | None | 0 | None | 0 | 0 | 0 |
| Q/R | rs760149145 |
-0.548 | 0.961 | N | 0.412 | 0.133 | 0.143124449307 | gnomAD-4.0.0 | 3.42139E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.2611E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2602 | likely_benign | 0.2491 | benign | -0.851 | Destabilizing | 0.525 | D | 0.333 | neutral | None | None | None | None | N |
| Q/C | 0.5269 | ambiguous | 0.5738 | pathogenic | -0.119 | Destabilizing | 0.998 | D | 0.443 | neutral | None | None | None | None | N |
| Q/D | 0.4641 | ambiguous | 0.4268 | ambiguous | -0.946 | Destabilizing | 0.971 | D | 0.293 | neutral | None | None | None | None | N |
| Q/E | 0.1037 | likely_benign | 0.0992 | benign | -0.791 | Destabilizing | 0.771 | D | 0.347 | neutral | N | 0.444386475 | None | None | N |
| Q/F | 0.7565 | likely_pathogenic | 0.7684 | pathogenic | -0.301 | Destabilizing | 0.974 | D | 0.466 | neutral | None | None | None | None | N |
| Q/G | 0.2915 | likely_benign | 0.278 | benign | -1.267 | Destabilizing | 0.915 | D | 0.363 | neutral | None | None | None | None | N |
| Q/H | 0.2639 | likely_benign | 0.2579 | benign | -0.987 | Destabilizing | 0.989 | D | 0.35 | neutral | N | 0.462396233 | None | None | N |
| Q/I | 0.5179 | ambiguous | 0.5335 | ambiguous | 0.247 | Stabilizing | 0.525 | D | 0.369 | neutral | None | None | None | None | N |
| Q/K | 0.1098 | likely_benign | 0.1122 | benign | -0.591 | Destabilizing | 0.891 | D | 0.309 | neutral | N | 0.453640676 | None | None | N |
| Q/L | 0.2024 | likely_benign | 0.2045 | benign | 0.247 | Stabilizing | 0.454 | N | 0.313 | neutral | N | 0.517441439 | None | None | N |
| Q/M | 0.3682 | ambiguous | 0.3951 | ambiguous | 0.681 | Stabilizing | 0.974 | D | 0.365 | neutral | None | None | None | None | N |
| Q/N | 0.3194 | likely_benign | 0.3059 | benign | -1.188 | Destabilizing | 0.971 | D | 0.365 | neutral | None | None | None | None | N |
| Q/P | 0.9155 | likely_pathogenic | 0.8743 | pathogenic | -0.089 | Destabilizing | 0.989 | D | 0.365 | neutral | N | 0.498044641 | None | None | N |
| Q/R | 0.1269 | likely_benign | 0.125 | benign | -0.573 | Destabilizing | 0.961 | D | 0.412 | neutral | N | 0.454120679 | None | None | N |
| Q/S | 0.264 | likely_benign | 0.256 | benign | -1.338 | Destabilizing | 0.915 | D | 0.258 | neutral | None | None | None | None | N |
| Q/T | 0.2609 | likely_benign | 0.2562 | benign | -0.985 | Destabilizing | 0.842 | D | 0.315 | neutral | None | None | None | None | N |
| Q/V | 0.322 | likely_benign | 0.3285 | benign | -0.089 | Destabilizing | 0.002 | N | 0.159 | neutral | None | None | None | None | N |
| Q/W | 0.7138 | likely_pathogenic | 0.7101 | pathogenic | -0.207 | Destabilizing | 0.998 | D | 0.435 | neutral | None | None | None | None | N |
| Q/Y | 0.5368 | ambiguous | 0.5419 | ambiguous | 0.016 | Stabilizing | 0.991 | D | 0.387 | 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.