Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17911 | 53956;53957;53958 | chr2:178605564;178605563;178605562 | chr2:179470291;179470290;179470289 |
| N2AB | 16270 | 49033;49034;49035 | chr2:178605564;178605563;178605562 | chr2:179470291;179470290;179470289 |
| N2A | 15343 | 46252;46253;46254 | chr2:178605564;178605563;178605562 | chr2:179470291;179470290;179470289 |
| N2B | 8846 | 26761;26762;26763 | chr2:178605564;178605563;178605562 | chr2:179470291;179470290;179470289 |
| Novex-1 | 8971 | 27136;27137;27138 | chr2:178605564;178605563;178605562 | chr2:179470291;179470290;179470289 |
| Novex-2 | 9038 | 27337;27338;27339 | chr2:178605564;178605563;178605562 | chr2:179470291;179470290;179470289 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/I | rs1576339919  |
None | 0.007 | N | 0.394 | 0.222 | 0.259272394797 | gnomAD-4.0.0 | 6.86517E-07 | None | None | None | None | N | None | 3.00409E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/K | None | None | 0.815 | N | 0.439 | 0.142 | 0.226586394389 | gnomAD-4.0.0 | 7.55169E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01699E-06 | 0 | 1.66439E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.3267 | likely_benign | 0.3539 | ambiguous | -0.904 | Destabilizing | 0.543 | D | 0.464 | neutral | None | None | None | None | N |
| R/C | 0.2104 | likely_benign | 0.235 | benign | -0.879 | Destabilizing | 0.996 | D | 0.58 | neutral | None | None | None | None | N |
| R/D | 0.7326 | likely_pathogenic | 0.7412 | pathogenic | -0.007 | Destabilizing | 0.953 | D | 0.573 | neutral | None | None | None | None | N |
| R/E | 0.3531 | ambiguous | 0.3943 | ambiguous | 0.123 | Stabilizing | 0.854 | D | 0.471 | neutral | None | None | None | None | N |
| R/F | 0.5989 | likely_pathogenic | 0.602 | pathogenic | -0.711 | Destabilizing | 0.91 | D | 0.59 | neutral | None | None | None | None | N |
| R/G | 0.4104 | ambiguous | 0.4297 | ambiguous | -1.219 | Destabilizing | 0.815 | D | 0.563 | neutral | N | 0.474554666 | None | None | N |
| R/H | 0.1818 | likely_benign | 0.1809 | benign | -1.419 | Destabilizing | 0.984 | D | 0.525 | neutral | None | None | None | None | N |
| R/I | 0.1837 | likely_benign | 0.2138 | benign | -0.057 | Destabilizing | 0.007 | N | 0.394 | neutral | N | 0.483251507 | None | None | N |
| R/K | 0.1119 | likely_benign | 0.1261 | benign | -0.87 | Destabilizing | 0.815 | D | 0.439 | neutral | N | 0.433649406 | None | None | N |
| R/L | 0.2081 | likely_benign | 0.2243 | benign | -0.057 | Destabilizing | 0.009 | N | 0.317 | neutral | None | None | None | None | N |
| R/M | 0.2551 | likely_benign | 0.2735 | benign | -0.405 | Destabilizing | 0.91 | D | 0.568 | neutral | None | None | None | None | N |
| R/N | 0.5985 | likely_pathogenic | 0.6011 | pathogenic | -0.348 | Destabilizing | 0.984 | D | 0.519 | neutral | None | None | None | None | N |
| R/P | 0.2464 | likely_benign | 0.2606 | benign | -0.319 | Destabilizing | 0.004 | N | 0.282 | neutral | None | None | None | None | N |
| R/Q | 0.1165 | likely_benign | 0.1347 | benign | -0.512 | Destabilizing | 0.984 | D | 0.525 | neutral | None | None | None | None | N |
| R/S | 0.5664 | likely_pathogenic | 0.5852 | pathogenic | -1.181 | Destabilizing | 0.815 | D | 0.523 | neutral | N | 0.465972468 | None | None | N |
| R/T | 0.2201 | likely_benign | 0.2376 | benign | -0.865 | Destabilizing | 0.684 | D | 0.477 | neutral | N | 0.427262152 | None | None | N |
| R/V | 0.1962 | likely_benign | 0.2412 | benign | -0.319 | Destabilizing | 0.17 | N | 0.487 | neutral | None | None | None | None | N |
| R/W | 0.2737 | likely_benign | 0.2673 | benign | -0.33 | Destabilizing | 0.996 | D | 0.64 | neutral | None | None | None | None | N |
| R/Y | 0.4573 | ambiguous | 0.4549 | ambiguous | -0.053 | Destabilizing | 0.953 | D | 0.603 | 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.