Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5118 | 15577;15578;15579 | chr2:178734472;178734471;178734470 | chr2:179599199;179599198;179599197 |
| N2AB | 4801 | 14626;14627;14628 | chr2:178734472;178734471;178734470 | chr2:179599199;179599198;179599197 |
| N2A | 3874 | 11845;11846;11847 | chr2:178734472;178734471;178734470 | chr2:179599199;179599198;179599197 |
| 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 | rs747924639  |
-0.524 | 0.91 | N | 0.407 | 0.283 | 0.281780670237 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/G | rs747924639 |
-0.524 | 0.91 | N | 0.407 | 0.283 | 0.281780670237 | gnomAD-4.0.0 | 1.36847E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31922E-05 | 0 |
| S/R | rs747924639 |
0.109 | 0.994 | D | 0.377 | 0.606 | 0.515603885326 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| S/R | rs747924639 |
0.109 | 0.994 | D | 0.377 | 0.606 | 0.515603885326 | gnomAD-4.0.0 | 6.84234E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.7343E-04 | 4.49746E-06 | 4.63843E-05 | 0 |
| S/T | rs781058314 |
0.017 | 0.98 | D | 0.423 | 0.316 | 0.346768085243 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| S/T | rs781058314 |
0.017 | 0.98 | D | 0.423 | 0.316 | 0.346768085243 | gnomAD-4.0.0 | 1.59161E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.775E-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 | 0.2165 | likely_benign | 0.2854 | benign | -0.346 | Destabilizing | 0.965 | D | 0.407 | neutral | None | None | None | None | N |
| S/C | 0.3236 | likely_benign | 0.4446 | ambiguous | -0.401 | Destabilizing | 1.0 | D | 0.423 | neutral | D | 0.759438771 | None | None | N |
| S/D | 0.9407 | likely_pathogenic | 0.9416 | pathogenic | 0.494 | Stabilizing | 0.041 | N | 0.203 | neutral | None | None | None | None | N |
| S/E | 0.983 | likely_pathogenic | 0.9834 | pathogenic | 0.424 | Stabilizing | 0.871 | D | 0.407 | neutral | None | None | None | None | N |
| S/F | 0.8202 | likely_pathogenic | 0.8913 | pathogenic | -0.98 | Destabilizing | 0.999 | D | 0.52 | neutral | None | None | None | None | N |
| S/G | 0.1329 | likely_benign | 0.1656 | benign | -0.456 | Destabilizing | 0.91 | D | 0.407 | neutral | N | 0.491745617 | None | None | N |
| S/H | 0.8934 | likely_pathogenic | 0.9136 | pathogenic | -0.799 | Destabilizing | 0.999 | D | 0.38 | neutral | None | None | None | None | N |
| S/I | 0.8227 | likely_pathogenic | 0.8965 | pathogenic | -0.188 | Destabilizing | 0.998 | D | 0.519 | neutral | D | 0.684525699 | None | None | N |
| S/K | 0.9919 | likely_pathogenic | 0.9932 | pathogenic | -0.282 | Destabilizing | 0.97 | D | 0.344 | neutral | None | None | None | None | N |
| S/L | 0.4375 | ambiguous | 0.5722 | pathogenic | -0.188 | Destabilizing | 0.985 | D | 0.475 | neutral | None | None | None | None | N |
| S/M | 0.6681 | likely_pathogenic | 0.7721 | pathogenic | -0.223 | Destabilizing | 1.0 | D | 0.388 | neutral | None | None | None | None | N |
| S/N | 0.5136 | ambiguous | 0.6 | pathogenic | -0.173 | Destabilizing | 0.961 | D | 0.409 | neutral | D | 0.522039559 | None | None | N |
| S/P | 0.9159 | likely_pathogenic | 0.9408 | pathogenic | -0.213 | Destabilizing | 0.999 | D | 0.363 | neutral | None | None | None | None | N |
| S/Q | 0.9504 | likely_pathogenic | 0.9598 | pathogenic | -0.301 | Destabilizing | 0.996 | D | 0.383 | neutral | None | None | None | None | N |
| S/R | 0.9844 | likely_pathogenic | 0.9862 | pathogenic | -0.133 | Destabilizing | 0.994 | D | 0.377 | neutral | D | 0.632002076 | None | None | N |
| S/T | 0.1904 | likely_benign | 0.246 | benign | -0.264 | Destabilizing | 0.98 | D | 0.423 | neutral | D | 0.529091212 | None | None | N |
| S/V | 0.7185 | likely_pathogenic | 0.8291 | pathogenic | -0.213 | Destabilizing | 0.999 | D | 0.477 | neutral | None | None | None | None | N |
| S/W | 0.8813 | likely_pathogenic | 0.9246 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| S/Y | 0.8036 | likely_pathogenic | 0.8624 | pathogenic | -0.711 | Destabilizing | 0.999 | D | 0.519 | 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.