Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7158 | 21697;21698;21699 | chr2:178723628;178723627;178723626 | chr2:179588355;179588354;179588353 |
| N2AB | 6841 | 20746;20747;20748 | chr2:178723628;178723627;178723626 | chr2:179588355;179588354;179588353 |
| N2A | 5914 | 17965;17966;17967 | chr2:178723628;178723627;178723626 | chr2:179588355;179588354;179588353 |
| 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/G | None | None | 0.001 | N | 0.298 | 0.208 | 0.0806252709748 | gnomAD-4.0.0 | 3.19292E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86467E-06 | 1.44288E-05 | 0 |
| S/N | rs1325004608  |
-0.92 | 0.642 | N | 0.626 | 0.217 | 0.12205267543 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| S/N | rs1325004608 |
-0.92 | 0.642 | N | 0.626 | 0.217 | 0.12205267543 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/N | rs1325004608 |
-0.92 | 0.642 | N | 0.626 | 0.217 | 0.12205267543 | gnomAD-4.0.0 | 6.57358E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47042E-05 | 0 | 0 |
| S/R | rs1229825752 |
-0.461 | 0.97 | N | 0.774 | 0.253 | 0.227934060464 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.35E-05 | None | 0 | 0 | 0 |
| S/R | rs1229825752 |
-0.461 | 0.97 | N | 0.774 | 0.253 | 0.227934060464 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs1229825752 |
-0.461 | 0.97 | N | 0.774 | 0.253 | 0.227934060464 | gnomAD-4.0.0 | 6.85415E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16874E-05 | 0 |
| S/T | rs1325004608 |
None | 0.425 | N | 0.56 | 0.159 | 0.107399877778 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/T | rs1325004608 |
None | 0.425 | N | 0.56 | 0.159 | 0.107399877778 | gnomAD-4.0.0 | 3.04496E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.61484E-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 | 0.0749 | likely_benign | 0.0732 | benign | -0.653 | Destabilizing | 0.001 | N | 0.299 | neutral | None | None | None | None | N |
| S/C | 0.1259 | likely_benign | 0.1301 | benign | -0.377 | Destabilizing | 0.006 | N | 0.543 | neutral | N | 0.339708511 | None | None | N |
| S/D | 0.9723 | likely_pathogenic | 0.9686 | pathogenic | -1.575 | Destabilizing | 0.828 | D | 0.621 | neutral | None | None | None | None | N |
| S/E | 0.9832 | likely_pathogenic | 0.9809 | pathogenic | -1.33 | Destabilizing | 0.704 | D | 0.619 | neutral | None | None | None | None | N |
| S/F | 0.8166 | likely_pathogenic | 0.8155 | pathogenic | -0.319 | Destabilizing | 0.944 | D | 0.815 | deleterious | None | None | None | None | N |
| S/G | 0.1427 | likely_benign | 0.144 | benign | -1.087 | Destabilizing | 0.001 | N | 0.298 | neutral | N | 0.46278773 | None | None | N |
| S/H | 0.9519 | likely_pathogenic | 0.9519 | pathogenic | -1.382 | Destabilizing | 0.981 | D | 0.779 | deleterious | None | None | None | None | N |
| S/I | 0.5704 | likely_pathogenic | 0.5621 | ambiguous | 0.475 | Stabilizing | 0.473 | N | 0.744 | deleterious | N | 0.509885456 | None | None | N |
| S/K | 0.9962 | likely_pathogenic | 0.996 | pathogenic | -0.073 | Destabilizing | 0.704 | D | 0.621 | neutral | None | None | None | None | N |
| S/L | 0.3086 | likely_benign | 0.313 | benign | 0.475 | Stabilizing | 0.329 | N | 0.714 | prob.delet. | None | None | None | None | N |
| S/M | 0.5046 | ambiguous | 0.4963 | ambiguous | 0.253 | Stabilizing | 0.944 | D | 0.779 | deleterious | None | None | None | None | N |
| S/N | 0.7508 | likely_pathogenic | 0.7447 | pathogenic | -0.954 | Destabilizing | 0.642 | D | 0.626 | neutral | N | 0.466514987 | None | None | N |
| S/P | 0.9352 | likely_pathogenic | 0.9302 | pathogenic | 0.133 | Stabilizing | 0.944 | D | 0.767 | deleterious | None | None | None | None | N |
| S/Q | 0.9748 | likely_pathogenic | 0.9735 | pathogenic | -0.547 | Destabilizing | 0.944 | D | 0.67 | neutral | None | None | None | None | N |
| S/R | 0.9903 | likely_pathogenic | 0.99 | pathogenic | -0.629 | Destabilizing | 0.97 | D | 0.774 | deleterious | N | 0.454994098 | None | None | N |
| S/T | 0.1466 | likely_benign | 0.1437 | benign | -0.531 | Destabilizing | 0.425 | N | 0.56 | neutral | N | 0.510925606 | None | None | N |
| S/V | 0.3903 | ambiguous | 0.3834 | ambiguous | 0.133 | Stabilizing | 0.031 | N | 0.596 | neutral | None | None | None | None | N |
| S/W | 0.9286 | likely_pathogenic | 0.9345 | pathogenic | -0.736 | Destabilizing | 0.995 | D | 0.829 | deleterious | None | None | None | None | N |
| S/Y | 0.8205 | likely_pathogenic | 0.8309 | pathogenic | -0.223 | Destabilizing | 0.981 | D | 0.825 | 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.