Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2333 | 7222;7223;7224 | chr2:178774267;178774266;178774265 | chr2:179638994;179638993;179638992 |
| N2AB | 2333 | 7222;7223;7224 | chr2:178774267;178774266;178774265 | chr2:179638994;179638993;179638992 |
| N2A | 2333 | 7222;7223;7224 | chr2:178774267;178774266;178774265 | chr2:179638994;179638993;179638992 |
| N2B | 2287 | 7084;7085;7086 | chr2:178774267;178774266;178774265 | chr2:179638994;179638993;179638992 |
| Novex-1 | 2287 | 7084;7085;7086 | chr2:178774267;178774266;178774265 | chr2:179638994;179638993;179638992 |
| Novex-2 | 2287 | 7084;7085;7086 | chr2:178774267;178774266;178774265 | chr2:179638994;179638993;179638992 |
| Novex-3 | 2333 | 7222;7223;7224 | chr2:178774267;178774266;178774265 | chr2:179638994;179638993;179638992 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs778177301  |
-0.844 | 0.992 | N | 0.33 | 0.404 | 0.259272394797 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 0 | 5.79E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Q/E | rs778177301 |
-0.844 | 0.992 | N | 0.33 | 0.404 | 0.259272394797 | gnomAD-4.0.0 | 2.73632E-06 | None | None | None | None | N | None | 0 | 4.47247E-05 | None | 0 | 0 | None | 0 | 0 | 1.79862E-06 | 0 | 0 |
| Q/R | None | None | 0.997 | N | 0.45 | 0.481 | 0.303123707472 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2372 | likely_benign | 0.2311 | benign | -0.68 | Destabilizing | 0.997 | D | 0.511 | neutral | None | None | None | None | N |
| Q/C | 0.7218 | likely_pathogenic | 0.6885 | pathogenic | 0.041 | Stabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| Q/D | 0.6302 | likely_pathogenic | 0.6022 | pathogenic | -0.864 | Destabilizing | 0.997 | D | 0.467 | neutral | None | None | None | None | N |
| Q/E | 0.0835 | likely_benign | 0.0832 | benign | -0.748 | Destabilizing | 0.992 | D | 0.33 | neutral | N | 0.353512516 | None | None | N |
| Q/F | 0.8647 | likely_pathogenic | 0.8477 | pathogenic | -0.29 | Destabilizing | 0.999 | D | 0.803 | deleterious | None | None | None | None | N |
| Q/G | 0.3725 | ambiguous | 0.3548 | ambiguous | -1.066 | Destabilizing | 0.997 | D | 0.62 | neutral | None | None | None | None | N |
| Q/H | 0.4365 | ambiguous | 0.4189 | ambiguous | -0.963 | Destabilizing | 0.999 | D | 0.653 | neutral | N | 0.511897292 | None | None | N |
| Q/I | 0.5121 | ambiguous | 0.4865 | ambiguous | 0.321 | Stabilizing | 0.999 | D | 0.808 | deleterious | None | None | None | None | N |
| Q/K | 0.1584 | likely_benign | 0.1537 | benign | -0.551 | Destabilizing | 0.997 | D | 0.43 | neutral | N | 0.499199449 | None | None | N |
| Q/L | 0.243 | likely_benign | 0.2328 | benign | 0.321 | Stabilizing | 0.997 | D | 0.62 | neutral | N | 0.487700046 | None | None | N |
| Q/M | 0.4007 | ambiguous | 0.3856 | ambiguous | 0.841 | Stabilizing | 0.999 | D | 0.656 | neutral | None | None | None | None | N |
| Q/N | 0.4784 | ambiguous | 0.4507 | ambiguous | -1.102 | Destabilizing | 0.999 | D | 0.617 | neutral | None | None | None | None | N |
| Q/P | 0.7354 | likely_pathogenic | 0.7177 | pathogenic | 0.019 | Stabilizing | 0.999 | D | 0.778 | deleterious | N | 0.511897292 | None | None | N |
| Q/R | 0.1751 | likely_benign | 0.1713 | benign | -0.523 | Destabilizing | 0.997 | D | 0.45 | neutral | N | 0.501550173 | None | None | N |
| Q/S | 0.3439 | ambiguous | 0.3305 | benign | -1.169 | Destabilizing | 0.997 | D | 0.425 | neutral | None | None | None | None | N |
| Q/T | 0.2793 | likely_benign | 0.2538 | benign | -0.862 | Destabilizing | 0.999 | D | 0.674 | neutral | None | None | None | None | N |
| Q/V | 0.355 | ambiguous | 0.3331 | benign | 0.019 | Stabilizing | 0.999 | D | 0.714 | prob.delet. | None | None | None | None | N |
| Q/W | 0.819 | likely_pathogenic | 0.8002 | pathogenic | -0.229 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| Q/Y | 0.7228 | likely_pathogenic | 0.7015 | pathogenic | -0.003 | Destabilizing | 0.999 | D | 0.789 | deleterious | 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.