Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9657 | 29194;29195;29196 | chr2:178707598;178707597;178707596 | chr2:179572325;179572324;179572323 |
| N2AB | 9340 | 28243;28244;28245 | chr2:178707598;178707597;178707596 | chr2:179572325;179572324;179572323 |
| N2A | 8413 | 25462;25463;25464 | chr2:178707598;178707597;178707596 | chr2:179572325;179572324;179572323 |
| 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/L | rs200049911  |
-0.006 | 0.271 | None | 0.539 | 0.386 | None | gnomAD-2.1.1 | 3.06869E-04 | None | None | None | None | N | None | 2.97644E-03 | 1.13372E-04 | None | 0 | 0 | None | 2.94272E-04 | None | 0 | 7.8E-06 | 0 |
| S/L | rs200049911 |
-0.006 | 0.271 | None | 0.539 | 0.386 | None | gnomAD-3.1.2 | 7.4262E-04 | None | None | None | None | N | None | 2.60555E-03 | 1.96515E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 2.06868E-04 | 0 |
| S/L | rs200049911 |
-0.006 | 0.271 | None | 0.539 | 0.386 | None | 1000 genomes | 1.59744E-03 | None | None | None | None | N | None | 5.3E-03 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| S/L | rs200049911 |
-0.006 | 0.271 | None | 0.539 | 0.386 | None | gnomAD-4.0.0 | 1.49335E-04 | None | None | None | None | N | None | 2.61173E-03 | 1.33387E-04 | None | 0 | 0 | None | 0 | 0 | 2.54278E-06 | 3.07442E-04 | 9.6043E-05 |
| S/T | None | None | 0.027 | None | 0.483 | 0.106 | 0.143124449307 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| S/W | None | None | 0.965 | None | 0.66 | 0.54 | 0.819072979398 | gnomAD-4.0.0 | 6.84208E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51902E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0634 | likely_benign | 0.0557 | benign | -0.792 | Destabilizing | None | N | 0.115 | neutral | None | None | None | None | N |
| S/C | 0.1799 | likely_benign | 0.1305 | benign | -0.488 | Destabilizing | 0.824 | D | 0.523 | neutral | None | None | None | None | N |
| S/D | 0.5941 | likely_pathogenic | 0.5677 | pathogenic | -0.1 | Destabilizing | 0.149 | N | 0.464 | neutral | None | None | None | None | N |
| S/E | 0.6564 | likely_pathogenic | 0.5984 | pathogenic | -0.118 | Destabilizing | 0.149 | N | 0.454 | neutral | None | None | None | None | N |
| S/F | 0.308 | likely_benign | 0.235 | benign | -1.024 | Destabilizing | 0.555 | D | 0.591 | neutral | None | None | None | None | N |
| S/G | 0.098 | likely_benign | 0.0922 | benign | -1.021 | Destabilizing | 0.035 | N | 0.453 | neutral | None | None | None | None | N |
| S/H | 0.5531 | ambiguous | 0.4964 | ambiguous | -1.484 | Destabilizing | 0.935 | D | 0.535 | neutral | None | None | None | None | N |
| S/I | 0.2772 | likely_benign | 0.2148 | benign | -0.289 | Destabilizing | 0.38 | N | 0.589 | neutral | None | None | None | None | N |
| S/K | 0.8202 | likely_pathogenic | 0.7523 | pathogenic | -0.7 | Destabilizing | 0.002 | N | 0.18 | neutral | None | None | None | None | N |
| S/L | 0.1339 | likely_benign | 0.0865 | benign | -0.289 | Destabilizing | 0.271 | N | 0.539 | neutral | None | None | None | None | N |
| S/M | 0.2622 | likely_benign | 0.2226 | benign | 0.05 | Stabilizing | 0.555 | D | 0.537 | neutral | None | None | None | None | N |
| S/N | 0.2484 | likely_benign | 0.2369 | benign | -0.597 | Destabilizing | 0.262 | N | 0.477 | neutral | None | None | None | None | N |
| S/P | 0.7182 | likely_pathogenic | 0.6236 | pathogenic | -0.424 | Destabilizing | 0.317 | N | 0.55 | neutral | None | None | None | None | N |
| S/Q | 0.6342 | likely_pathogenic | 0.5885 | pathogenic | -0.78 | Destabilizing | 0.38 | N | 0.487 | neutral | None | None | None | None | N |
| S/R | 0.7458 | likely_pathogenic | 0.6373 | pathogenic | -0.57 | Destabilizing | 0.081 | N | 0.517 | neutral | None | None | None | None | N |
| S/T | 0.1055 | likely_benign | 0.0965 | benign | -0.674 | Destabilizing | 0.027 | N | 0.483 | neutral | None | None | None | None | N |
| S/V | 0.2426 | likely_benign | 0.1951 | benign | -0.424 | Destabilizing | 0.081 | N | 0.543 | neutral | None | None | None | None | N |
| S/W | 0.5299 | ambiguous | 0.451 | ambiguous | -0.967 | Destabilizing | 0.965 | D | 0.66 | neutral | None | None | None | None | N |
| S/Y | 0.3054 | likely_benign | 0.242 | benign | -0.721 | Destabilizing | 0.555 | D | 0.589 | 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.