Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14391 | 43396;43397;43398 | chr2:178632960;178632959;178632958 | chr2:179497687;179497686;179497685 |
| N2AB | 12750 | 38473;38474;38475 | chr2:178632960;178632959;178632958 | chr2:179497687;179497686;179497685 |
| N2A | 11823 | 35692;35693;35694 | chr2:178632960;178632959;178632958 | chr2:179497687;179497686;179497685 |
| N2B | 5326 | 16201;16202;16203 | chr2:178632960;178632959;178632958 | chr2:179497687;179497686;179497685 |
| Novex-1 | 5451 | 16576;16577;16578 | chr2:178632960;178632959;178632958 | chr2:179497687;179497686;179497685 |
| Novex-2 | 5518 | 16777;16778;16779 | chr2:178632960;178632959;178632958 | chr2:179497687;179497686;179497685 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs768592399  |
-0.22 | 0.951 | N | 0.586 | 0.189 | 0.167679373172 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| Q/E | rs768592399 |
-0.22 | 0.951 | N | 0.586 | 0.189 | 0.167679373172 | 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 |
| Q/E | rs768592399 |
-0.22 | 0.951 | N | 0.586 | 0.189 | 0.167679373172 | gnomAD-4.0.0 | 7.43915E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47861E-06 | 0 | 3.20349E-05 |
| Q/H | rs1206302591 |
-1.014 | 0.998 | N | 0.572 | 0.188 | 0.144782658237 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Q/H | rs1206302591 |
-1.014 | 0.998 | N | 0.572 | 0.188 | 0.144782658237 | gnomAD-4.0.0 | 1.59261E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43382E-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 | 0.3811 | ambiguous | 0.3463 | ambiguous | -0.76 | Destabilizing | 0.926 | D | 0.597 | neutral | None | None | None | None | N |
| Q/C | 0.8514 | likely_pathogenic | 0.8471 | pathogenic | -0.045 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| Q/D | 0.7561 | likely_pathogenic | 0.6047 | pathogenic | -0.359 | Destabilizing | 0.984 | D | 0.583 | neutral | None | None | None | None | N |
| Q/E | 0.1066 | likely_benign | 0.0938 | benign | -0.294 | Destabilizing | 0.951 | D | 0.586 | neutral | N | 0.426422432 | None | None | N |
| Q/F | 0.8314 | likely_pathogenic | 0.794 | pathogenic | -0.611 | Destabilizing | 0.998 | D | 0.763 | deleterious | None | None | None | None | N |
| Q/G | 0.6758 | likely_pathogenic | 0.6202 | pathogenic | -1.071 | Destabilizing | 0.984 | D | 0.645 | neutral | None | None | None | None | N |
| Q/H | 0.4019 | ambiguous | 0.3405 | ambiguous | -1.0 | Destabilizing | 0.998 | D | 0.572 | neutral | N | 0.449471157 | None | None | N |
| Q/I | 0.3931 | ambiguous | 0.3542 | ambiguous | 0.019 | Stabilizing | 0.991 | D | 0.788 | deleterious | None | None | None | None | N |
| Q/K | 0.2068 | likely_benign | 0.1793 | benign | -0.182 | Destabilizing | 0.979 | D | 0.649 | prob.neutral | N | 0.434779588 | None | None | N |
| Q/L | 0.2221 | likely_benign | 0.2034 | benign | 0.019 | Stabilizing | 0.958 | D | 0.632 | neutral | N | 0.416945037 | None | None | N |
| Q/M | 0.4556 | ambiguous | 0.4264 | ambiguous | 0.556 | Stabilizing | 0.998 | D | 0.563 | neutral | None | None | None | None | N |
| Q/N | 0.6038 | likely_pathogenic | 0.4799 | ambiguous | -0.619 | Destabilizing | 0.984 | D | 0.615 | neutral | None | None | None | None | N |
| Q/P | 0.9291 | likely_pathogenic | 0.9009 | pathogenic | -0.211 | Destabilizing | 0.998 | D | 0.615 | neutral | D | 0.527654956 | None | None | N |
| Q/R | 0.2114 | likely_benign | 0.2051 | benign | -0.115 | Destabilizing | 0.979 | D | 0.623 | neutral | N | 0.432052863 | None | None | N |
| Q/S | 0.3987 | ambiguous | 0.3399 | benign | -0.782 | Destabilizing | 0.863 | D | 0.624 | neutral | None | None | None | None | N |
| Q/T | 0.2448 | likely_benign | 0.2071 | benign | -0.527 | Destabilizing | 0.147 | N | 0.341 | neutral | None | None | None | None | N |
| Q/V | 0.276 | likely_benign | 0.2579 | benign | -0.211 | Destabilizing | 0.968 | D | 0.631 | neutral | None | None | None | None | N |
| Q/W | 0.8117 | likely_pathogenic | 0.7764 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.721 | deleterious | None | None | None | None | N |
| Q/Y | 0.7227 | likely_pathogenic | 0.6677 | pathogenic | -0.211 | Destabilizing | 0.998 | D | 0.572 | 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.