Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34379 | 103360;103361;103362 | chr2:178533480;178533479;178533478 | chr2:179398207;179398206;179398205 |
| N2AB | 32738 | 98437;98438;98439 | chr2:178533480;178533479;178533478 | chr2:179398207;179398206;179398205 |
| N2A | 31811 | 95656;95657;95658 | chr2:178533480;178533479;178533478 | chr2:179398207;179398206;179398205 |
| N2B | 25314 | 76165;76166;76167 | chr2:178533480;178533479;178533478 | chr2:179398207;179398206;179398205 |
| Novex-1 | 25439 | 76540;76541;76542 | chr2:178533480;178533479;178533478 | chr2:179398207;179398206;179398205 |
| Novex-2 | 25506 | 76741;76742;76743 | chr2:178533480;178533479;178533478 | chr2:179398207;179398206;179398205 |
| 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 | rs758051666  |
None | 0.811 | N | 0.427 | 0.352 | 0.263140351381 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/G | rs758051666 |
None | 0.811 | N | 0.427 | 0.352 | 0.263140351381 | gnomAD-4.0.0 | 6.56927E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46994E-05 | 0 | 0 |
| S/N | None | None | 0.026 | N | 0.23 | 0.158 | 0.159798565429 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/R | rs758051666 |
-0.141 | 0.968 | N | 0.525 | 0.513 | 0.297375071883 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 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 | 0.2177 | likely_benign | 0.2167 | benign | -0.436 | Destabilizing | 0.825 | D | 0.459 | neutral | None | None | None | None | N |
| S/C | 0.3678 | ambiguous | 0.3612 | ambiguous | -0.184 | Destabilizing | 0.999 | D | 0.545 | neutral | N | 0.497803693 | None | None | N |
| S/D | 0.6874 | likely_pathogenic | 0.6035 | pathogenic | -0.365 | Destabilizing | 0.851 | D | 0.421 | neutral | None | None | None | None | N |
| S/E | 0.8619 | likely_pathogenic | 0.853 | pathogenic | -0.416 | Destabilizing | 0.919 | D | 0.43 | neutral | None | None | None | None | N |
| S/F | 0.84 | likely_pathogenic | 0.8159 | pathogenic | -0.751 | Destabilizing | 0.996 | D | 0.644 | neutral | None | None | None | None | N |
| S/G | 0.2335 | likely_benign | 0.2047 | benign | -0.638 | Destabilizing | 0.811 | D | 0.427 | neutral | N | 0.493662636 | None | None | N |
| S/H | 0.7265 | likely_pathogenic | 0.7019 | pathogenic | -1.184 | Destabilizing | 0.997 | D | 0.529 | neutral | None | None | None | None | N |
| S/I | 0.708 | likely_pathogenic | 0.7051 | pathogenic | -0.019 | Destabilizing | 0.968 | D | 0.635 | neutral | D | 0.523981488 | None | None | N |
| S/K | 0.9581 | likely_pathogenic | 0.9571 | pathogenic | -0.744 | Destabilizing | 0.919 | D | 0.435 | neutral | None | None | None | None | N |
| S/L | 0.5886 | likely_pathogenic | 0.5764 | pathogenic | -0.019 | Destabilizing | 0.919 | D | 0.493 | neutral | None | None | None | None | N |
| S/M | 0.6334 | likely_pathogenic | 0.6273 | pathogenic | 0.35 | Stabilizing | 0.999 | D | 0.524 | neutral | None | None | None | None | N |
| S/N | 0.3159 | likely_benign | 0.2266 | benign | -0.507 | Destabilizing | 0.026 | N | 0.23 | neutral | N | 0.496621528 | None | None | N |
| S/P | 0.6738 | likely_pathogenic | 0.5987 | pathogenic | -0.125 | Destabilizing | 0.996 | D | 0.522 | neutral | None | None | None | None | N |
| S/Q | 0.8635 | likely_pathogenic | 0.8548 | pathogenic | -0.728 | Destabilizing | 0.988 | D | 0.475 | neutral | None | None | None | None | N |
| S/R | 0.9332 | likely_pathogenic | 0.9333 | pathogenic | -0.524 | Destabilizing | 0.968 | D | 0.525 | neutral | N | 0.499507118 | None | None | N |
| S/T | 0.226 | likely_benign | 0.2132 | benign | -0.513 | Destabilizing | 0.103 | N | 0.183 | neutral | N | 0.44992366 | None | None | N |
| S/V | 0.6728 | likely_pathogenic | 0.6789 | pathogenic | -0.125 | Destabilizing | 0.976 | D | 0.508 | neutral | None | None | None | None | N |
| S/W | 0.8445 | likely_pathogenic | 0.8523 | pathogenic | -0.776 | Destabilizing | 0.999 | D | 0.719 | prob.delet. | None | None | None | None | N |
| S/Y | 0.6901 | likely_pathogenic | 0.6793 | pathogenic | -0.523 | Destabilizing | 0.996 | D | 0.637 | 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.