Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16143 | 48652;48653;48654 | chr2:178615674;178615673;178615672 | chr2:179480401;179480400;179480399 |
| N2AB | 14502 | 43729;43730;43731 | chr2:178615674;178615673;178615672 | chr2:179480401;179480400;179480399 |
| N2A | 13575 | 40948;40949;40950 | chr2:178615674;178615673;178615672 | chr2:179480401;179480400;179480399 |
| N2B | 7078 | 21457;21458;21459 | chr2:178615674;178615673;178615672 | chr2:179480401;179480400;179480399 |
| Novex-1 | 7203 | 21832;21833;21834 | chr2:178615674;178615673;178615672 | chr2:179480401;179480400;179480399 |
| Novex-2 | 7270 | 22033;22034;22035 | chr2:178615674;178615673;178615672 | chr2:179480401;179480400;179480399 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs2057207422  |
None | None | N | 0.147 | 0.096 | 0.134241683229 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | rs2057207422 |
None | None | N | 0.147 | 0.096 | 0.134241683229 | gnomAD-4.0.0 | 6.58241E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47258E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1372 | likely_benign | 0.1407 | benign | -1.056 | Destabilizing | 0.006 | N | 0.499 | neutral | N | 0.43956962 | None | None | N |
| V/C | 0.5539 | ambiguous | 0.5389 | ambiguous | -0.569 | Destabilizing | 0.204 | N | 0.594 | neutral | None | None | None | None | N |
| V/D | 0.4887 | ambiguous | 0.5047 | ambiguous | -0.803 | Destabilizing | 0.087 | N | 0.786 | deleterious | N | 0.500239404 | None | None | N |
| V/E | 0.4152 | ambiguous | 0.4423 | ambiguous | -0.7 | Destabilizing | 0.035 | N | 0.717 | prob.delet. | None | None | None | None | N |
| V/F | 0.1843 | likely_benign | 0.1823 | benign | -0.529 | Destabilizing | 0.013 | N | 0.718 | prob.delet. | N | 0.494764154 | None | None | N |
| V/G | 0.2247 | likely_benign | 0.2272 | benign | -1.442 | Destabilizing | 0.026 | N | 0.711 | prob.delet. | N | 0.498733803 | None | None | N |
| V/H | 0.6187 | likely_pathogenic | 0.6162 | pathogenic | -0.934 | Destabilizing | 0.747 | D | 0.717 | prob.delet. | None | None | None | None | N |
| V/I | 0.0751 | likely_benign | 0.0733 | benign | -0.064 | Destabilizing | None | N | 0.147 | neutral | N | 0.391673817 | None | None | N |
| V/K | 0.4326 | ambiguous | 0.4643 | ambiguous | -0.736 | Destabilizing | 0.035 | N | 0.701 | prob.delet. | None | None | None | None | N |
| V/L | 0.1417 | likely_benign | 0.1417 | benign | -0.064 | Destabilizing | None | N | 0.259 | neutral | N | 0.440864285 | None | None | N |
| V/M | 0.1186 | likely_benign | 0.1204 | benign | -0.165 | Destabilizing | 0.003 | N | 0.469 | neutral | None | None | None | None | N |
| V/N | 0.3483 | ambiguous | 0.3395 | benign | -0.777 | Destabilizing | 0.112 | N | 0.795 | deleterious | None | None | None | None | N |
| V/P | 0.6381 | likely_pathogenic | 0.6061 | pathogenic | -0.361 | Destabilizing | 0.204 | N | 0.741 | deleterious | None | None | None | None | N |
| V/Q | 0.4138 | ambiguous | 0.4249 | ambiguous | -0.753 | Destabilizing | 0.204 | N | 0.692 | prob.delet. | None | None | None | None | N |
| V/R | 0.3597 | ambiguous | 0.3868 | ambiguous | -0.507 | Destabilizing | 0.112 | N | 0.797 | deleterious | None | None | None | None | N |
| V/S | 0.1928 | likely_benign | 0.1935 | benign | -1.343 | Destabilizing | 0.018 | N | 0.626 | neutral | None | None | None | None | N |
| V/T | 0.1192 | likely_benign | 0.126 | benign | -1.109 | Destabilizing | None | N | 0.293 | neutral | None | None | None | None | N |
| V/W | 0.7569 | likely_pathogenic | 0.7488 | pathogenic | -0.843 | Destabilizing | 0.747 | D | 0.739 | deleterious | None | None | None | None | N |
| V/Y | 0.5979 | likely_pathogenic | 0.5763 | pathogenic | -0.438 | Destabilizing | 0.204 | N | 0.715 | prob.delet. | 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.