Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31333 | 94222;94223;94224 | chr2:178547629;178547628;178547627 | chr2:179412356;179412355;179412354 |
| N2AB | 29692 | 89299;89300;89301 | chr2:178547629;178547628;178547627 | chr2:179412356;179412355;179412354 |
| N2A | 28765 | 86518;86519;86520 | chr2:178547629;178547628;178547627 | chr2:179412356;179412355;179412354 |
| N2B | 22268 | 67027;67028;67029 | chr2:178547629;178547628;178547627 | chr2:179412356;179412355;179412354 |
| Novex-1 | 22393 | 67402;67403;67404 | chr2:178547629;178547628;178547627 | chr2:179412356;179412355;179412354 |
| Novex-2 | 22460 | 67603;67604;67605 | chr2:178547629;178547628;178547627 | chr2:179412356;179412355;179412354 |
| 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/L | None | None | 1.0 | D | 0.909 | 0.519 | 0.665058716224 | gnomAD-4.0.0 | 1.5911E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85804E-06 | 0 | 0 |
| P/S | None | None | 1.0 | N | 0.857 | 0.449 | 0.421674004627 | gnomAD-4.0.0 | 3.1822E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85804E-06 | 1.43271E-05 | 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 | 0.6442 | likely_pathogenic | 0.5094 | ambiguous | -1.807 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.51698286 | None | None | N |
| P/C | 0.9593 | likely_pathogenic | 0.929 | pathogenic | -1.418 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/D | 0.988 | likely_pathogenic | 0.9704 | pathogenic | -1.944 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/E | 0.9691 | likely_pathogenic | 0.9293 | pathogenic | -1.879 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| P/F | 0.9961 | likely_pathogenic | 0.9926 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| P/G | 0.9429 | likely_pathogenic | 0.8816 | pathogenic | -2.204 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/H | 0.9724 | likely_pathogenic | 0.9447 | pathogenic | -1.793 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.549926141 | None | None | N |
| P/I | 0.9644 | likely_pathogenic | 0.9338 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| P/K | 0.9856 | likely_pathogenic | 0.9669 | pathogenic | -1.465 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/L | 0.8921 | likely_pathogenic | 0.8183 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.536795409 | None | None | N |
| P/M | 0.9702 | likely_pathogenic | 0.9396 | pathogenic | -0.672 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/N | 0.9788 | likely_pathogenic | 0.9511 | pathogenic | -1.417 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/Q | 0.9543 | likely_pathogenic | 0.9041 | pathogenic | -1.516 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| P/R | 0.9665 | likely_pathogenic | 0.9308 | pathogenic | -1.026 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.549672651 | None | None | N |
| P/S | 0.8946 | likely_pathogenic | 0.7952 | pathogenic | -2.008 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.497802195 | None | None | N |
| P/T | 0.861 | likely_pathogenic | 0.7279 | pathogenic | -1.821 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.526453061 | None | None | N |
| P/V | 0.9066 | likely_pathogenic | 0.834 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| P/W | 0.9978 | likely_pathogenic | 0.9962 | pathogenic | -1.621 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/Y | 0.9949 | likely_pathogenic | 0.9893 | pathogenic | -1.3 | Destabilizing | 1.0 | D | 0.909 | 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.