Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31984 | 96175;96176;96177 | chr2:178544279;178544278;178544277 | chr2:179409006;179409005;179409004 |
| N2AB | 30343 | 91252;91253;91254 | chr2:178544279;178544278;178544277 | chr2:179409006;179409005;179409004 |
| N2A | 29416 | 88471;88472;88473 | chr2:178544279;178544278;178544277 | chr2:179409006;179409005;179409004 |
| N2B | 22919 | 68980;68981;68982 | chr2:178544279;178544278;178544277 | chr2:179409006;179409005;179409004 |
| Novex-1 | 23044 | 69355;69356;69357 | chr2:178544279;178544278;178544277 | chr2:179409006;179409005;179409004 |
| Novex-2 | 23111 | 69556;69557;69558 | chr2:178544279;178544278;178544277 | chr2:179409006;179409005;179409004 |
| 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 | rs2154144165  |
None | 1.0 | D | 0.738 | 0.561 | 0.609492077976 | gnomAD-4.0.0 | 1.36845E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.799E-06 | 0 | 0 |
| R/S | None | None | 1.0 | N | 0.738 | 0.601 | 0.490006198212 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9403 | likely_pathogenic | 0.9466 | pathogenic | -2.189 | Highly Destabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | N |
| R/C | 0.419 | ambiguous | 0.4548 | ambiguous | -1.967 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| R/D | 0.9957 | likely_pathogenic | 0.9955 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| R/E | 0.9295 | likely_pathogenic | 0.9325 | pathogenic | -0.866 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| R/F | 0.9716 | likely_pathogenic | 0.9749 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| R/G | 0.9383 | likely_pathogenic | 0.9396 | pathogenic | -2.524 | Highly Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.547400791 | None | None | N |
| R/H | 0.3387 | likely_benign | 0.3734 | ambiguous | -2.285 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| R/I | 0.8802 | likely_pathogenic | 0.897 | pathogenic | -1.203 | Destabilizing | 1.0 | D | 0.84 | deleterious | N | 0.507900598 | None | None | N |
| R/K | 0.3197 | likely_benign | 0.3473 | ambiguous | -1.315 | Destabilizing | 0.997 | D | 0.679 | prob.neutral | N | 0.490299641 | None | None | N |
| R/L | 0.8463 | likely_pathogenic | 0.8586 | pathogenic | -1.203 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| R/M | 0.8934 | likely_pathogenic | 0.9056 | pathogenic | -1.703 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| R/N | 0.978 | likely_pathogenic | 0.9807 | pathogenic | -1.388 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| R/P | 0.9983 | likely_pathogenic | 0.9981 | pathogenic | -1.523 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| R/Q | 0.2758 | likely_benign | 0.3009 | benign | -1.227 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| R/S | 0.9631 | likely_pathogenic | 0.9676 | pathogenic | -2.289 | Highly Destabilizing | 1.0 | D | 0.738 | prob.delet. | N | 0.509871927 | None | None | N |
| R/T | 0.9323 | likely_pathogenic | 0.9426 | pathogenic | -1.853 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.491211467 | None | None | N |
| R/V | 0.8921 | likely_pathogenic | 0.9105 | pathogenic | -1.523 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| R/W | 0.7555 | likely_pathogenic | 0.7729 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| R/Y | 0.9229 | likely_pathogenic | 0.9287 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.846 | 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.