Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5035 | 15328;15329;15330 | chr2:178734821;178734820;178734819 | chr2:179599548;179599547;179599546 |
| N2AB | 4718 | 14377;14378;14379 | chr2:178734821;178734820;178734819 | chr2:179599548;179599547;179599546 |
| N2A | 3791 | 11596;11597;11598 | chr2:178734821;178734820;178734819 | chr2:179599548;179599547;179599546 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/C | None | None | 0.997 | D | 0.485 | 0.454 | 0.502443086328 | 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 |
| S/F | rs2081161682  |
None | 0.876 | D | 0.546 | 0.291 | 0.601095518603 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| S/F | rs2081161682 |
None | 0.876 | D | 0.546 | 0.291 | 0.601095518603 | gnomAD-4.0.0 | 6.57229E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| S/T | None | None | 0.801 | N | 0.425 | 0.214 | 0.279370189704 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.0979 | likely_benign | 0.1032 | benign | -0.619 | Destabilizing | 0.625 | D | 0.384 | neutral | D | 0.527126711 | None | None | N |
| S/C | 0.2051 | likely_benign | 0.1891 | benign | -0.435 | Destabilizing | 0.997 | D | 0.485 | neutral | D | 0.666756849 | None | None | N |
| S/D | 0.4638 | ambiguous | 0.4174 | ambiguous | 0.115 | Stabilizing | 0.728 | D | 0.401 | neutral | None | None | None | None | N |
| S/E | 0.6199 | likely_pathogenic | 0.5898 | pathogenic | 0.142 | Stabilizing | 0.842 | D | 0.431 | neutral | None | None | None | None | N |
| S/F | 0.2934 | likely_benign | 0.3397 | benign | -0.792 | Destabilizing | 0.876 | D | 0.546 | neutral | D | 0.556409469 | None | None | N |
| S/G | 0.1032 | likely_benign | 0.0974 | benign | -0.887 | Destabilizing | 0.002 | N | 0.145 | neutral | None | None | None | None | N |
| S/H | 0.4491 | ambiguous | 0.454 | ambiguous | -1.253 | Destabilizing | 0.974 | D | 0.513 | neutral | None | None | None | None | N |
| S/I | 0.4844 | ambiguous | 0.4746 | ambiguous | -0.011 | Destabilizing | 0.974 | D | 0.541 | neutral | None | None | None | None | N |
| S/K | 0.7906 | likely_pathogenic | 0.7701 | pathogenic | -0.464 | Destabilizing | 0.842 | D | 0.433 | neutral | None | None | None | None | N |
| S/L | 0.1383 | likely_benign | 0.146 | benign | -0.011 | Destabilizing | 0.842 | D | 0.493 | neutral | None | None | None | None | N |
| S/M | 0.2582 | likely_benign | 0.2705 | benign | 0.004 | Stabilizing | 0.998 | D | 0.495 | neutral | None | None | None | None | N |
| S/N | 0.1845 | likely_benign | 0.1616 | benign | -0.512 | Destabilizing | 0.007 | N | 0.153 | neutral | None | None | None | None | N |
| S/P | 0.6766 | likely_pathogenic | 0.6728 | pathogenic | -0.179 | Destabilizing | 0.989 | D | 0.503 | neutral | D | 0.603430644 | None | None | N |
| S/Q | 0.577 | likely_pathogenic | 0.5854 | pathogenic | -0.536 | Destabilizing | 0.974 | D | 0.528 | neutral | None | None | None | None | N |
| S/R | 0.7293 | likely_pathogenic | 0.7101 | pathogenic | -0.454 | Destabilizing | 0.949 | D | 0.483 | neutral | None | None | None | None | N |
| S/T | 0.1124 | likely_benign | 0.1092 | benign | -0.511 | Destabilizing | 0.801 | D | 0.425 | neutral | N | 0.508451604 | None | None | N |
| S/V | 0.3864 | ambiguous | 0.3939 | ambiguous | -0.179 | Destabilizing | 0.915 | D | 0.495 | neutral | None | None | None | None | N |
| S/W | 0.424 | ambiguous | 0.4296 | ambiguous | -0.824 | Destabilizing | 0.037 | N | 0.519 | neutral | None | None | None | None | N |
| S/Y | 0.2176 | likely_benign | 0.2307 | benign | -0.509 | Destabilizing | 0.876 | D | 0.543 | neutral | D | 0.547218992 | 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.