Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33103 | 99532;99533;99534 | chr2:178537900;178537899;178537898 | chr2:179402627;179402626;179402625 |
| N2AB | 31462 | 94609;94610;94611 | chr2:178537900;178537899;178537898 | chr2:179402627;179402626;179402625 |
| N2A | 30535 | 91828;91829;91830 | chr2:178537900;178537899;178537898 | chr2:179402627;179402626;179402625 |
| N2B | 24038 | 72337;72338;72339 | chr2:178537900;178537899;178537898 | chr2:179402627;179402626;179402625 |
| Novex-1 | 24163 | 72712;72713;72714 | chr2:178537900;178537899;178537898 | chr2:179402627;179402626;179402625 |
| Novex-2 | 24230 | 72913;72914;72915 | chr2:178537900;178537899;178537898 | chr2:179402627;179402626;179402625 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/K | rs1251000688  |
-1.215 | 0.009 | D | 0.714 | 0.55 | 0.852493086899 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 6.53E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/K | rs1251000688 |
-1.215 | 0.009 | D | 0.714 | 0.55 | 0.852493086899 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/K | rs1251000688 |
-1.215 | 0.009 | D | 0.714 | 0.55 | 0.852493086899 | gnomAD-4.0.0 | 1.97153E-05 | None | None | None | None | N | None | 7.24148E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/L | rs1490474972 |
-0.821 | None | N | 0.18 | 0.111 | 0.256283259241 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.08E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.5557 | ambiguous | 0.5259 | ambiguous | -1.652 | Destabilizing | 0.042 | N | 0.463 | neutral | None | None | None | None | N |
| I/C | 0.6712 | likely_pathogenic | 0.6704 | pathogenic | -0.857 | Destabilizing | 0.599 | D | 0.621 | neutral | None | None | None | None | N |
| I/D | 0.8877 | likely_pathogenic | 0.8599 | pathogenic | -1.213 | Destabilizing | 0.599 | D | 0.725 | prob.delet. | None | None | None | None | N |
| I/E | 0.7884 | likely_pathogenic | 0.7485 | pathogenic | -1.223 | Destabilizing | 0.524 | D | 0.715 | prob.delet. | None | None | None | None | N |
| I/F | 0.1568 | likely_benign | 0.1493 | benign | -1.2 | Destabilizing | 0.077 | N | 0.492 | neutral | None | None | None | None | N |
| I/G | 0.7765 | likely_pathogenic | 0.7532 | pathogenic | -1.963 | Destabilizing | 0.299 | N | 0.711 | prob.delet. | None | None | None | None | N |
| I/H | 0.7006 | likely_pathogenic | 0.6666 | pathogenic | -1.244 | Destabilizing | 0.877 | D | 0.749 | deleterious | None | None | None | None | N |
| I/K | 0.5997 | likely_pathogenic | 0.5289 | ambiguous | -1.125 | Destabilizing | 0.009 | N | 0.714 | prob.delet. | D | 0.534216467 | None | None | N |
| I/L | 0.0848 | likely_benign | 0.0827 | benign | -0.87 | Destabilizing | None | N | 0.18 | neutral | N | 0.499603118 | None | None | N |
| I/M | 0.1105 | likely_benign | 0.1086 | benign | -0.627 | Destabilizing | 0.062 | N | 0.501 | neutral | N | 0.498715519 | None | None | N |
| I/N | 0.5195 | ambiguous | 0.4539 | ambiguous | -0.873 | Destabilizing | 0.82 | D | 0.742 | deleterious | None | None | None | None | N |
| I/P | 0.7021 | likely_pathogenic | 0.7082 | pathogenic | -1.1 | Destabilizing | 0.599 | D | 0.731 | prob.delet. | None | None | None | None | N |
| I/Q | 0.6223 | likely_pathogenic | 0.5861 | pathogenic | -1.082 | Destabilizing | 0.654 | D | 0.747 | deleterious | None | None | None | None | N |
| I/R | 0.5275 | ambiguous | 0.4541 | ambiguous | -0.521 | Destabilizing | 0.31 | N | 0.733 | prob.delet. | D | 0.534216467 | None | None | N |
| I/S | 0.5476 | ambiguous | 0.5099 | ambiguous | -1.43 | Destabilizing | 0.174 | N | 0.654 | neutral | None | None | None | None | N |
| I/T | 0.4955 | ambiguous | 0.4445 | ambiguous | -1.334 | Destabilizing | 0.023 | N | 0.529 | neutral | D | 0.522353182 | None | None | N |
| I/V | 0.0877 | likely_benign | 0.0819 | benign | -1.1 | Destabilizing | None | N | 0.157 | neutral | N | 0.472416517 | None | None | N |
| I/W | 0.7206 | likely_pathogenic | 0.7323 | pathogenic | -1.279 | Destabilizing | 0.962 | D | 0.751 | deleterious | None | None | None | None | N |
| I/Y | 0.5527 | ambiguous | 0.5363 | ambiguous | -1.063 | Destabilizing | 0.065 | N | 0.589 | 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.