Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1855 | 5788;5789;5790 | chr2:178776301;178776300;178776299 | chr2:179641028;179641027;179641026 |
| N2AB | 1855 | 5788;5789;5790 | chr2:178776301;178776300;178776299 | chr2:179641028;179641027;179641026 |
| N2A | 1855 | 5788;5789;5790 | chr2:178776301;178776300;178776299 | chr2:179641028;179641027;179641026 |
| N2B | 1809 | 5650;5651;5652 | chr2:178776301;178776300;178776299 | chr2:179641028;179641027;179641026 |
| Novex-1 | 1809 | 5650;5651;5652 | chr2:178776301;178776300;178776299 | chr2:179641028;179641027;179641026 |
| Novex-2 | 1809 | 5650;5651;5652 | chr2:178776301;178776300;178776299 | chr2:179641028;179641027;179641026 |
| Novex-3 | 1855 | 5788;5789;5790 | chr2:178776301;178776300;178776299 | chr2:179641028;179641027;179641026 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs753507549  |
-1.285 | 1.0 | D | 0.853 | 0.886 | 0.678765193132 | gnomAD-2.1.1 | 3.54E-05 | None | None | None | None | N | None | 0 | 2.82199E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs753507549 |
-1.285 | 1.0 | D | 0.853 | 0.886 | 0.678765193132 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.30907E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs753507549 |
-1.285 | 1.0 | D | 0.853 | 0.886 | 0.678765193132 | gnomAD-4.0.0 | 1.28071E-05 | None | None | None | None | N | None | 0 | 1.69457E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4303 | ambiguous | 0.45 | ambiguous | -0.598 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.666399695 | None | None | N |
| G/C | 0.611 | likely_pathogenic | 0.6442 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/D | 0.6192 | likely_pathogenic | 0.6206 | pathogenic | -1.225 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/E | 0.6837 | likely_pathogenic | 0.6866 | pathogenic | -1.385 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.680966383 | None | None | N |
| G/F | 0.9235 | likely_pathogenic | 0.9227 | pathogenic | -1.303 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/H | 0.7619 | likely_pathogenic | 0.7671 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| G/I | 0.9203 | likely_pathogenic | 0.9227 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| G/K | 0.888 | likely_pathogenic | 0.8887 | pathogenic | -1.125 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| G/L | 0.8643 | likely_pathogenic | 0.8697 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/M | 0.8373 | likely_pathogenic | 0.8386 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/N | 0.3252 | likely_benign | 0.3439 | ambiguous | -0.748 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/P | 0.9972 | likely_pathogenic | 0.9969 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| G/Q | 0.7071 | likely_pathogenic | 0.7182 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/R | 0.8124 | likely_pathogenic | 0.8113 | pathogenic | -0.573 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.721500222 | None | None | N |
| G/S | 0.2059 | likely_benign | 0.2208 | benign | -0.865 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/T | 0.5244 | ambiguous | 0.5424 | ambiguous | -0.972 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/V | 0.835 | likely_pathogenic | 0.8418 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.803540708 | None | None | N |
| G/W | 0.8487 | likely_pathogenic | 0.8315 | pathogenic | -1.443 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.80328825 | None | None | N |
| G/Y | 0.8074 | likely_pathogenic | 0.8157 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.845 | 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.