Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8472 | 25639;25640;25641 | chr2:178717320;178717319;178717318 | chr2:179582047;179582046;179582045 |
| N2AB | 8155 | 24688;24689;24690 | chr2:178717320;178717319;178717318 | chr2:179582047;179582046;179582045 |
| N2A | 7228 | 21907;21908;21909 | chr2:178717320;178717319;178717318 | chr2:179582047;179582046;179582045 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs2077634946  |
None | 0.424 | N | 0.277 | 0.266 | 0.110078149338 | gnomAD-4.0.0 | 6.84306E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99599E-07 | 0 | 0 |
| S/N | None | None | 0.314 | N | 0.273 | 0.14 | 0.0846915920261 | gnomAD-4.0.0 | 6.8431E-07 | None | None | None | None | N | None | 2.98936E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | None | None | 0.022 | N | 0.287 | 0.128 | 0.204665344411 | gnomAD-4.0.0 | 6.84306E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.5194E-05 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | rs374912661 |
-0.39 | 0.085 | N | 0.301 | 0.092 | None | gnomAD-2.1.1 | 4.42E-05 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 7.11E-05 | 0 |
| S/T | rs374912661 |
-0.39 | 0.085 | N | 0.301 | 0.092 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | rs374912661 |
-0.39 | 0.085 | N | 0.301 | 0.092 | None | gnomAD-4.0.0 | 2.23117E-05 | None | None | None | None | N | None | 0 | 5.001E-05 | None | 0 | 0 | None | 0 | 0 | 2.7975E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0705 | likely_benign | 0.0732 | benign | -0.349 | Destabilizing | None | N | 0.12 | neutral | None | None | None | None | N |
| S/C | 0.2721 | likely_benign | 0.2734 | benign | -0.313 | Destabilizing | 0.994 | D | 0.375 | neutral | N | 0.483105667 | None | None | N |
| S/D | 0.543 | ambiguous | 0.5386 | ambiguous | 0.454 | Stabilizing | 0.838 | D | 0.276 | neutral | None | None | None | None | N |
| S/E | 0.6121 | likely_pathogenic | 0.5957 | pathogenic | 0.381 | Stabilizing | 0.424 | N | 0.278 | neutral | None | None | None | None | N |
| S/F | 0.2273 | likely_benign | 0.2468 | benign | -0.837 | Destabilizing | 0.971 | D | 0.437 | neutral | None | None | None | None | N |
| S/G | 0.1143 | likely_benign | 0.1208 | benign | -0.491 | Destabilizing | 0.424 | N | 0.277 | neutral | N | 0.482091709 | None | None | N |
| S/H | 0.4655 | ambiguous | 0.4721 | ambiguous | -0.942 | Destabilizing | 0.985 | D | 0.392 | neutral | None | None | None | None | N |
| S/I | 0.202 | likely_benign | 0.231 | benign | -0.103 | Destabilizing | 0.783 | D | 0.438 | neutral | N | 0.477002828 | None | None | N |
| S/K | 0.7344 | likely_pathogenic | 0.7171 | pathogenic | -0.363 | Destabilizing | 0.663 | D | 0.276 | neutral | None | None | None | None | N |
| S/L | 0.1099 | likely_benign | 0.1234 | benign | -0.103 | Destabilizing | 0.663 | D | 0.399 | neutral | None | None | None | None | N |
| S/M | 0.2163 | likely_benign | 0.2366 | benign | 0.024 | Stabilizing | 0.462 | N | 0.325 | neutral | None | None | None | None | N |
| S/N | 0.167 | likely_benign | 0.1802 | benign | -0.137 | Destabilizing | 0.314 | N | 0.273 | neutral | N | 0.492630634 | None | None | N |
| S/P | 0.152 | likely_benign | 0.1412 | benign | -0.154 | Destabilizing | 0.008 | N | 0.236 | neutral | None | None | None | None | N |
| S/Q | 0.5663 | likely_pathogenic | 0.5643 | pathogenic | -0.34 | Destabilizing | 0.271 | N | 0.259 | neutral | None | None | None | None | N |
| S/R | 0.6723 | likely_pathogenic | 0.665 | pathogenic | -0.211 | Destabilizing | 0.022 | N | 0.287 | neutral | N | 0.50885088 | None | None | N |
| S/T | 0.0831 | likely_benign | 0.0841 | benign | -0.266 | Destabilizing | 0.085 | N | 0.301 | neutral | N | 0.435217126 | None | None | N |
| S/V | 0.1989 | likely_benign | 0.2179 | benign | -0.154 | Destabilizing | 0.641 | D | 0.415 | neutral | None | None | None | None | N |
| S/W | 0.4168 | ambiguous | 0.4441 | ambiguous | -0.831 | Destabilizing | 0.999 | D | 0.491 | neutral | None | None | None | None | N |
| S/Y | 0.2144 | likely_benign | 0.2334 | benign | -0.543 | Destabilizing | 0.995 | D | 0.441 | 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.