Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7216 | 21871;21872;21873 | chr2:178723454;178723453;178723452 | chr2:179588181;179588180;179588179 |
| N2AB | 6899 | 20920;20921;20922 | chr2:178723454;178723453;178723452 | chr2:179588181;179588180;179588179 |
| N2A | 5972 | 18139;18140;18141 | chr2:178723454;178723453;178723452 | chr2:179588181;179588180;179588179 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs766206440  |
-0.554 | 1.0 | D | 0.841 | 0.622 | 0.60152364 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/D | rs766206440 |
-0.554 | 1.0 | D | 0.841 | 0.622 | 0.60152364 | gnomAD-4.0.0 | 1.5931E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02847E-05 |
| G/S | None | None | 1.0 | D | 0.79 | 0.638 | 0.54561114 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5754 | likely_pathogenic | 0.523 | ambiguous | -0.355 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | D | 0.62173116 | None | None | I |
| G/C | 0.8153 | likely_pathogenic | 0.7831 | pathogenic | -0.836 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.6162092 | None | None | I |
| G/D | 0.7734 | likely_pathogenic | 0.7384 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.6053082 | None | None | I |
| G/E | 0.8002 | likely_pathogenic | 0.7648 | pathogenic | -1.105 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/F | 0.9423 | likely_pathogenic | 0.9233 | pathogenic | -1.214 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/H | 0.8971 | likely_pathogenic | 0.873 | pathogenic | -0.584 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/I | 0.9305 | likely_pathogenic | 0.9071 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/K | 0.8742 | likely_pathogenic | 0.8462 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/L | 0.9094 | likely_pathogenic | 0.8831 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/M | 0.9392 | likely_pathogenic | 0.9222 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/N | 0.8267 | likely_pathogenic | 0.8041 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/P | 0.9945 | likely_pathogenic | 0.9923 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/Q | 0.8097 | likely_pathogenic | 0.7717 | pathogenic | -0.825 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/R | 0.7282 | likely_pathogenic | 0.686 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.6059136 | None | None | I |
| G/S | 0.3807 | ambiguous | 0.3543 | ambiguous | -0.532 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.60928535 | None | None | I |
| G/T | 0.8059 | likely_pathogenic | 0.7656 | pathogenic | -0.663 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/V | 0.8655 | likely_pathogenic | 0.825 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.6480765 | None | None | I |
| G/W | 0.9067 | likely_pathogenic | 0.8762 | pathogenic | -1.326 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/Y | 0.9137 | likely_pathogenic | 0.8922 | pathogenic | -0.995 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
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.