Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34278 | 103057;103058;103059 | chr2:178533783;178533782;178533781 | chr2:179398510;179398509;179398508 |
| N2AB | 32637 | 98134;98135;98136 | chr2:178533783;178533782;178533781 | chr2:179398510;179398509;179398508 |
| N2A | 31710 | 95353;95354;95355 | chr2:178533783;178533782;178533781 | chr2:179398510;179398509;179398508 |
| N2B | 25213 | 75862;75863;75864 | chr2:178533783;178533782;178533781 | chr2:179398510;179398509;179398508 |
| Novex-1 | 25338 | 76237;76238;76239 | chr2:178533783;178533782;178533781 | chr2:179398510;179398509;179398508 |
| Novex-2 | 25405 | 76438;76439;76440 | chr2:178533783;178533782;178533781 | chr2:179398510;179398509;179398508 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | None | None | 0.999 | N | 0.817 | 0.449 | 0.703011581269 | 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 |
| G/V | rs3731752  |
1.292 | 0.999 | N | 0.839 | 0.48 | None | gnomAD-2.1.1 | 3.93119E-02 | None | None | None | None | N | None | 7.11038E-02 | 3.14056E-02 | None | 4.18196E-02 | 1.74613E-01 | None | 4.75786E-02 | None | 3.11775E-03 | 2.00044E-02 | 3.59944E-02 |
| G/V | rs3731752 |
1.292 | 0.999 | N | 0.839 | 0.48 | None | gnomAD-3.1.2 | 4.09242E-02 | None | None | None | None | N | None | 7.03725E-02 | 3.87485E-02 | 8.79121E-03 | 4.14747E-02 | 1.65056E-01 | None | 2.35716E-03 | 3.16456E-02 | 1.9803E-02 | 4.51907E-02 | 5.40153E-02 |
| G/V | rs3731752 |
1.292 | 0.999 | N | 0.839 | 0.48 | None | 1000 genomes | 7.80751E-02 | None | None | None | None | N | None | 8.47E-02 | 4.03E-02 | None | None | 1.716E-01 | 3.18E-02 | None | None | None | 4.7E-02 | None |
| G/V | rs3731752 |
1.292 | 0.999 | N | 0.839 | 0.48 | None | gnomAD-4.0.0 | 2.92833E-02 | None | None | None | None | N | None | 7.06209E-02 | 3.44563E-02 | None | 4.23534E-02 | 1.77092E-01 | None | 3.15625E-03 | 7.62125E-02 | 1.9895E-02 | 4.69059E-02 | 3.64882E-02 |
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 | 0.1909 | likely_benign | 0.2473 | benign | -0.078 | Destabilizing | 0.995 | D | 0.657 | neutral | N | 0.439242519 | None | None | N |
| G/C | 0.4427 | ambiguous | 0.6208 | pathogenic | -0.105 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/D | 0.8344 | likely_pathogenic | 0.8949 | pathogenic | -1.304 | Destabilizing | 0.999 | D | 0.782 | deleterious | None | None | None | None | N |
| G/E | 0.7903 | likely_pathogenic | 0.8757 | pathogenic | -1.104 | Destabilizing | 0.999 | D | 0.761 | deleterious | N | 0.394238161 | None | None | N |
| G/F | 0.9087 | likely_pathogenic | 0.9542 | pathogenic | -0.101 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/H | 0.8845 | likely_pathogenic | 0.9365 | pathogenic | -1.429 | Destabilizing | 0.822 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/I | 0.6509 | likely_pathogenic | 0.8031 | pathogenic | 1.094 | Stabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| G/K | 0.9233 | likely_pathogenic | 0.9566 | pathogenic | -0.392 | Destabilizing | 0.999 | D | 0.78 | deleterious | None | None | None | None | N |
| G/L | 0.7791 | likely_pathogenic | 0.8831 | pathogenic | 1.094 | Stabilizing | 0.999 | D | 0.838 | deleterious | None | None | None | None | N |
| G/M | 0.8189 | likely_pathogenic | 0.9025 | pathogenic | 0.799 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/N | 0.7933 | likely_pathogenic | 0.8737 | pathogenic | -0.614 | Destabilizing | 0.999 | D | 0.739 | prob.delet. | None | None | None | None | N |
| G/P | 0.9757 | likely_pathogenic | 0.9901 | pathogenic | 0.75 | Stabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/Q | 0.8309 | likely_pathogenic | 0.8886 | pathogenic | -0.367 | Destabilizing | 0.999 | D | 0.817 | deleterious | None | None | None | None | N |
| G/R | 0.8146 | likely_pathogenic | 0.8908 | pathogenic | -0.789 | Destabilizing | 0.999 | D | 0.817 | deleterious | N | 0.425851934 | None | None | N |
| G/S | 0.1855 | likely_benign | 0.2589 | benign | -0.947 | Destabilizing | 0.999 | D | 0.755 | deleterious | None | None | None | None | N |
| G/T | 0.4207 | ambiguous | 0.5601 | ambiguous | -0.613 | Destabilizing | 0.999 | D | 0.793 | deleterious | None | None | None | None | N |
| G/V | 0.5185 | ambiguous | 0.6102 | pathogenic | 0.75 | Stabilizing | 0.999 | D | 0.839 | deleterious | N | 0.39304887 | None | None | N |
| G/W | 0.8468 | likely_pathogenic | 0.9211 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/Y | 0.8831 | likely_pathogenic | 0.9437 | pathogenic | -0.242 | Destabilizing | 0.999 | D | 0.848 | 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.