Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28178 | 84757;84758;84759 | chr2:178561600;178561599;178561598 | chr2:179426327;179426326;179426325 |
| N2AB | 26537 | 79834;79835;79836 | chr2:178561600;178561599;178561598 | chr2:179426327;179426326;179426325 |
| N2A | 25610 | 77053;77054;77055 | chr2:178561600;178561599;178561598 | chr2:179426327;179426326;179426325 |
| N2B | 19113 | 57562;57563;57564 | chr2:178561600;178561599;178561598 | chr2:179426327;179426326;179426325 |
| Novex-1 | 19238 | 57937;57938;57939 | chr2:178561600;178561599;178561598 | chr2:179426327;179426326;179426325 |
| Novex-2 | 19305 | 58138;58139;58140 | chr2:178561600;178561599;178561598 | chr2:179426327;179426326;179426325 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/T | None | None | 1.0 | D | 0.855 | 0.711 | 0.77169317571 | gnomAD-4.0.0 | 1.36906E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7994E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.884 | likely_pathogenic | 0.8678 | pathogenic | -1.843 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.623386664 | None | None | N |
| P/C | 0.9915 | likely_pathogenic | 0.9912 | pathogenic | -1.179 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/D | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.999 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/E | 0.9973 | likely_pathogenic | 0.9971 | pathogenic | -1.953 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/F | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.367 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| P/G | 0.9906 | likely_pathogenic | 0.9893 | pathogenic | -2.22 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| P/H | 0.9962 | likely_pathogenic | 0.9963 | pathogenic | -1.874 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/I | 0.9966 | likely_pathogenic | 0.9963 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/K | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -1.715 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/L | 0.9724 | likely_pathogenic | 0.9695 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.639002416 | None | None | N |
| P/M | 0.997 | likely_pathogenic | 0.9966 | pathogenic | -0.607 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/N | 0.9982 | likely_pathogenic | 0.998 | pathogenic | -1.522 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/Q | 0.9955 | likely_pathogenic | 0.9952 | pathogenic | -1.632 | Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.640011438 | None | None | N |
| P/R | 0.9956 | likely_pathogenic | 0.9958 | pathogenic | -1.208 | Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.623790273 | None | None | N |
| P/S | 0.9748 | likely_pathogenic | 0.9691 | pathogenic | -2.013 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.571906832 | None | None | N |
| P/T | 0.9776 | likely_pathogenic | 0.9724 | pathogenic | -1.854 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.614069718 | None | None | N |
| P/V | 0.9874 | likely_pathogenic | 0.9856 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.654 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/Y | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.887 | 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.