Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16929 | 51010;51011;51012 | chr2:178611444;178611443;178611442 | chr2:179476171;179476170;179476169 |
| N2AB | 15288 | 46087;46088;46089 | chr2:178611444;178611443;178611442 | chr2:179476171;179476170;179476169 |
| N2A | 14361 | 43306;43307;43308 | chr2:178611444;178611443;178611442 | chr2:179476171;179476170;179476169 |
| N2B | 7864 | 23815;23816;23817 | chr2:178611444;178611443;178611442 | chr2:179476171;179476170;179476169 |
| Novex-1 | 7989 | 24190;24191;24192 | chr2:178611444;178611443;178611442 | chr2:179476171;179476170;179476169 |
| Novex-2 | 8056 | 24391;24392;24393 | chr2:178611444;178611443;178611442 | chr2:179476171;179476170;179476169 |
| 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/G | None | None | 1.0 | D | 0.788 | 0.447 | 0.623381163396 | 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 |
| R/T | rs1247385443  |
-1.599 | 1.0 | N | 0.779 | 0.382 | 0.586996327016 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66556E-04 |
| R/T | rs1247385443 |
-1.599 | 1.0 | N | 0.779 | 0.382 | 0.586996327016 | gnomAD-4.0.0 | 4.77946E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41896E-04 | 2.86134E-06 | 0 | 3.0292E-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 | 0.7765 | likely_pathogenic | 0.9299 | pathogenic | -1.198 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | None | None | None | None | N |
| R/C | 0.2623 | likely_benign | 0.4808 | ambiguous | -1.391 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| R/D | 0.9711 | likely_pathogenic | 0.992 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| R/E | 0.8111 | likely_pathogenic | 0.9297 | pathogenic | -0.743 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| R/F | 0.7764 | likely_pathogenic | 0.9356 | pathogenic | -0.631 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| R/G | 0.7159 | likely_pathogenic | 0.9151 | pathogenic | -1.514 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.623226917 | None | None | N |
| R/H | 0.2201 | likely_benign | 0.4183 | ambiguous | -1.565 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| R/I | 0.6744 | likely_pathogenic | 0.8628 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.480994356 | None | None | N |
| R/K | 0.239 | likely_benign | 0.3909 | ambiguous | -1.188 | Destabilizing | 0.997 | D | 0.671 | neutral | N | 0.480474146 | None | None | N |
| R/L | 0.5645 | likely_pathogenic | 0.7878 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| R/M | 0.5893 | likely_pathogenic | 0.8585 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| R/N | 0.9035 | likely_pathogenic | 0.9745 | pathogenic | -1.145 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| R/P | 0.9955 | likely_pathogenic | 0.9982 | pathogenic | -0.594 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| R/Q | 0.2135 | likely_benign | 0.3934 | ambiguous | -0.955 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| R/S | 0.7857 | likely_pathogenic | 0.945 | pathogenic | -1.735 | Destabilizing | 1.0 | D | 0.778 | deleterious | N | 0.4842543 | None | None | N |
| R/T | 0.566 | likely_pathogenic | 0.863 | pathogenic | -1.373 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.481460422 | None | None | N |
| R/V | 0.712 | likely_pathogenic | 0.8743 | pathogenic | -0.594 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| R/W | 0.399 | ambiguous | 0.6723 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| R/Y | 0.659 | likely_pathogenic | 0.8839 | pathogenic | -0.124 | Destabilizing | 1.0 | D | 0.804 | 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.