Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2297 | 7114;7115;7116 | chr2:178774375;178774374;178774373 | chr2:179639102;179639101;179639100 |
| N2AB | 2297 | 7114;7115;7116 | chr2:178774375;178774374;178774373 | chr2:179639102;179639101;179639100 |
| N2A | 2297 | 7114;7115;7116 | chr2:178774375;178774374;178774373 | chr2:179639102;179639101;179639100 |
| N2B | 2251 | 6976;6977;6978 | chr2:178774375;178774374;178774373 | chr2:179639102;179639101;179639100 |
| Novex-1 | 2251 | 6976;6977;6978 | chr2:178774375;178774374;178774373 | chr2:179639102;179639101;179639100 |
| Novex-2 | 2251 | 6976;6977;6978 | chr2:178774375;178774374;178774373 | chr2:179639102;179639101;179639100 |
| Novex-3 | 2297 | 7114;7115;7116 | chr2:178774375;178774374;178774373 | chr2:179639102;179639101;179639100 |
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/A | None | None | 1.0 | D | 0.659 | 0.567 | 0.37479162749 | gnomAD-4.0.0 | 1.59071E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85696E-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 | 0.2533 | likely_benign | 0.2292 | benign | -0.408 | Destabilizing | 1.0 | D | 0.659 | neutral | D | 0.537501726 | None | None | N |
| G/C | 0.5678 | likely_pathogenic | 0.5294 | ambiguous | -0.502 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/D | 0.9155 | likely_pathogenic | 0.9016 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| G/E | 0.8794 | likely_pathogenic | 0.8609 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.622116358 | None | None | N |
| G/F | 0.9458 | likely_pathogenic | 0.9385 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| G/H | 0.9647 | likely_pathogenic | 0.959 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| G/I | 0.8014 | likely_pathogenic | 0.7716 | pathogenic | 0.128 | Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/K | 0.9625 | likely_pathogenic | 0.9563 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/L | 0.9101 | likely_pathogenic | 0.893 | pathogenic | 0.128 | Stabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/M | 0.912 | likely_pathogenic | 0.8963 | pathogenic | -0.056 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/N | 0.9 | likely_pathogenic | 0.8872 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/P | 0.9536 | likely_pathogenic | 0.9458 | pathogenic | -0.009 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/Q | 0.9374 | likely_pathogenic | 0.9281 | pathogenic | -0.825 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| G/R | 0.9398 | likely_pathogenic | 0.93 | pathogenic | -0.742 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.622116358 | None | None | N |
| G/S | 0.3699 | ambiguous | 0.3415 | ambiguous | -1.01 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/T | 0.6374 | likely_pathogenic | 0.6007 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/V | 0.6132 | likely_pathogenic | 0.5711 | pathogenic | -0.009 | Destabilizing | 1.0 | D | 0.808 | deleterious | N | 0.458751236 | None | None | N |
| G/W | 0.9036 | likely_pathogenic | 0.8926 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| G/Y | 0.9163 | likely_pathogenic | 0.9053 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.795 | 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.