Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28471 | 85636;85637;85638 | chr2:178560721;178560720;178560719 | chr2:179425448;179425447;179425446 |
| N2AB | 26830 | 80713;80714;80715 | chr2:178560721;178560720;178560719 | chr2:179425448;179425447;179425446 |
| N2A | 25903 | 77932;77933;77934 | chr2:178560721;178560720;178560719 | chr2:179425448;179425447;179425446 |
| N2B | 19406 | 58441;58442;58443 | chr2:178560721;178560720;178560719 | chr2:179425448;179425447;179425446 |
| Novex-1 | 19531 | 58816;58817;58818 | chr2:178560721;178560720;178560719 | chr2:179425448;179425447;179425446 |
| Novex-2 | 19598 | 59017;59018;59019 | chr2:178560721;178560720;178560719 | chr2:179425448;179425447;179425446 |
| 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/A | rs1185011450  |
-0.955 | 0.061 | N | 0.179 | 0.113 | 0.226586394389 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| S/A | rs1185011450 |
-0.955 | 0.061 | N | 0.179 | 0.113 | 0.226586394389 | gnomAD-4.0.0 | 1.59153E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85816E-06 | 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 | 0.0929 | likely_benign | 0.0869 | benign | -1.085 | Destabilizing | 0.061 | N | 0.179 | neutral | N | 0.496359664 | None | None | N |
| S/C | 0.0973 | likely_benign | 0.0973 | benign | -0.755 | Destabilizing | 0.077 | N | 0.36 | neutral | N | 0.491583997 | None | None | N |
| S/D | 0.5042 | ambiguous | 0.4846 | ambiguous | -0.41 | Destabilizing | 0.884 | D | 0.427 | neutral | None | None | None | None | N |
| S/E | 0.5203 | ambiguous | 0.5065 | ambiguous | -0.348 | Destabilizing | 0.939 | D | 0.432 | neutral | None | None | None | None | N |
| S/F | 0.1351 | likely_benign | 0.124 | benign | -1.234 | Destabilizing | 0.996 | D | 0.576 | neutral | N | 0.519474394 | None | None | N |
| S/G | 0.1518 | likely_benign | 0.1446 | benign | -1.371 | Destabilizing | 0.863 | D | 0.357 | neutral | None | None | None | None | N |
| S/H | 0.2343 | likely_benign | 0.2342 | benign | -1.718 | Destabilizing | 0.991 | D | 0.569 | neutral | None | None | None | None | N |
| S/I | 0.1362 | likely_benign | 0.1307 | benign | -0.407 | Destabilizing | 0.939 | D | 0.569 | neutral | None | None | None | None | N |
| S/K | 0.5268 | ambiguous | 0.5279 | ambiguous | -0.466 | Destabilizing | 0.939 | D | 0.431 | neutral | None | None | None | None | N |
| S/L | 0.0813 | likely_benign | 0.0813 | benign | -0.407 | Destabilizing | 0.939 | D | 0.481 | neutral | None | None | None | None | N |
| S/M | 0.189 | likely_benign | 0.1829 | benign | -0.222 | Destabilizing | 0.997 | D | 0.569 | neutral | None | None | None | None | N |
| S/N | 0.168 | likely_benign | 0.1633 | benign | -0.641 | Destabilizing | 0.17 | N | 0.34 | neutral | None | None | None | None | N |
| S/P | 0.9043 | likely_pathogenic | 0.9214 | pathogenic | -0.601 | Destabilizing | 0.988 | D | 0.55 | neutral | D | 0.5308307 | None | None | N |
| S/Q | 0.39 | ambiguous | 0.3789 | ambiguous | -0.722 | Destabilizing | 0.991 | D | 0.532 | neutral | None | None | None | None | N |
| S/R | 0.4055 | ambiguous | 0.3923 | ambiguous | -0.484 | Destabilizing | 0.991 | D | 0.551 | neutral | None | None | None | None | N |
| S/T | 0.0816 | likely_benign | 0.0812 | benign | -0.651 | Destabilizing | 0.061 | N | 0.175 | neutral | N | 0.466247401 | None | None | N |
| S/V | 0.1564 | likely_benign | 0.1534 | benign | -0.601 | Destabilizing | 0.939 | D | 0.483 | neutral | None | None | None | None | N |
| S/W | 0.2365 | likely_benign | 0.2195 | benign | -1.177 | Destabilizing | 0.999 | D | 0.682 | prob.neutral | None | None | None | None | N |
| S/Y | 0.132 | likely_benign | 0.1279 | benign | -0.88 | Destabilizing | 0.996 | D | 0.598 | neutral | N | 0.512726445 | 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.