Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2146 | 6661;6662;6663 | chr2:178775428;178775427;178775426 | chr2:179640155;179640154;179640153 |
| N2AB | 2146 | 6661;6662;6663 | chr2:178775428;178775427;178775426 | chr2:179640155;179640154;179640153 |
| N2A | 2146 | 6661;6662;6663 | chr2:178775428;178775427;178775426 | chr2:179640155;179640154;179640153 |
| N2B | 2100 | 6523;6524;6525 | chr2:178775428;178775427;178775426 | chr2:179640155;179640154;179640153 |
| Novex-1 | 2100 | 6523;6524;6525 | chr2:178775428;178775427;178775426 | chr2:179640155;179640154;179640153 |
| Novex-2 | 2100 | 6523;6524;6525 | chr2:178775428;178775427;178775426 | chr2:179640155;179640154;179640153 |
| Novex-3 | 2146 | 6661;6662;6663 | chr2:178775428;178775427;178775426 | chr2:179640155;179640154;179640153 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | None | None | 1.0 | D | 0.897 | 0.639 | 0.781250577677 | gnomAD-4.0.0 | 1.59071E-06 | None | None | None | None | N | None | 0 | 2.28718E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.2325 | likely_benign | 0.2904 | benign | -0.559 | Destabilizing | 0.997 | D | 0.414 | neutral | N | 0.477773784 | None | None | N |
| S/C | 0.548 | ambiguous | 0.6664 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.641897771 | None | None | N |
| S/D | 0.9645 | likely_pathogenic | 0.9754 | pathogenic | -0.054 | Destabilizing | 0.999 | D | 0.591 | neutral | None | None | None | None | N |
| S/E | 0.9711 | likely_pathogenic | 0.9769 | pathogenic | -0.106 | Destabilizing | 0.999 | D | 0.577 | neutral | None | None | None | None | N |
| S/F | 0.9541 | likely_pathogenic | 0.971 | pathogenic | -0.92 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.670013047 | None | None | N |
| S/G | 0.2981 | likely_benign | 0.3972 | ambiguous | -0.746 | Destabilizing | 0.999 | D | 0.541 | neutral | None | None | None | None | N |
| S/H | 0.9432 | likely_pathogenic | 0.9571 | pathogenic | -1.277 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| S/I | 0.9216 | likely_pathogenic | 0.9468 | pathogenic | -0.182 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| S/K | 0.994 | likely_pathogenic | 0.9955 | pathogenic | -0.64 | Destabilizing | 0.999 | D | 0.581 | neutral | None | None | None | None | N |
| S/L | 0.7388 | likely_pathogenic | 0.8113 | pathogenic | -0.182 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| S/M | 0.8131 | likely_pathogenic | 0.8503 | pathogenic | 0.122 | Stabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| S/N | 0.6969 | likely_pathogenic | 0.7711 | pathogenic | -0.472 | Destabilizing | 0.999 | D | 0.557 | neutral | None | None | None | None | N |
| S/P | 0.9837 | likely_pathogenic | 0.9905 | pathogenic | -0.275 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.653166547 | None | None | N |
| S/Q | 0.9518 | likely_pathogenic | 0.962 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| S/R | 0.9868 | likely_pathogenic | 0.991 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| S/T | 0.3568 | ambiguous | 0.4266 | ambiguous | -0.549 | Destabilizing | 0.999 | D | 0.503 | neutral | N | 0.516197763 | None | None | N |
| S/V | 0.8814 | likely_pathogenic | 0.918 | pathogenic | -0.275 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| S/W | 0.9809 | likely_pathogenic | 0.9879 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| S/Y | 0.9258 | likely_pathogenic | 0.9489 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.670013047 | 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.