Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26090 | 78493;78494;78495 | chr2:178567864;178567863;178567862 | chr2:179432591;179432590;179432589 |
| N2AB | 24449 | 73570;73571;73572 | chr2:178567864;178567863;178567862 | chr2:179432591;179432590;179432589 |
| N2A | 23522 | 70789;70790;70791 | chr2:178567864;178567863;178567862 | chr2:179432591;179432590;179432589 |
| N2B | 17025 | 51298;51299;51300 | chr2:178567864;178567863;178567862 | chr2:179432591;179432590;179432589 |
| Novex-1 | 17150 | 51673;51674;51675 | chr2:178567864;178567863;178567862 | chr2:179432591;179432590;179432589 |
| Novex-2 | 17217 | 51874;51875;51876 | chr2:178567864;178567863;178567862 | chr2:179432591;179432590;179432589 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs1197356544  |
-0.983 | 1.0 | N | 0.695 | 0.309 | 0.310147130316 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| D/N | rs1197356544 |
-0.983 | 1.0 | N | 0.695 | 0.309 | 0.310147130316 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| D/N | rs1197356544 |
-0.983 | 1.0 | N | 0.695 | 0.309 | 0.310147130316 | gnomAD-4.0.0 | 6.19806E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09789E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4981 | ambiguous | 0.4978 | ambiguous | -0.679 | Destabilizing | 0.999 | D | 0.739 | prob.delet. | N | 0.500281188 | None | None | N |
| D/C | 0.8846 | likely_pathogenic | 0.8875 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/E | 0.4574 | ambiguous | 0.533 | ambiguous | -0.718 | Destabilizing | 0.999 | D | 0.477 | neutral | N | 0.453019088 | None | None | N |
| D/F | 0.8383 | likely_pathogenic | 0.8671 | pathogenic | -0.283 | Destabilizing | 0.998 | D | 0.841 | deleterious | None | None | None | None | N |
| D/G | 0.5868 | likely_pathogenic | 0.5975 | pathogenic | -1.05 | Destabilizing | 0.999 | D | 0.745 | deleterious | N | 0.457636989 | None | None | N |
| D/H | 0.7032 | likely_pathogenic | 0.7339 | pathogenic | -0.693 | Destabilizing | 1.0 | D | 0.839 | deleterious | N | 0.519906381 | None | None | N |
| D/I | 0.8456 | likely_pathogenic | 0.8763 | pathogenic | 0.311 | Stabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| D/K | 0.8934 | likely_pathogenic | 0.9085 | pathogenic | -0.721 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| D/L | 0.725 | likely_pathogenic | 0.7553 | pathogenic | 0.311 | Stabilizing | 0.999 | D | 0.815 | deleterious | None | None | None | None | N |
| D/M | 0.8815 | likely_pathogenic | 0.9059 | pathogenic | 0.782 | Stabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| D/N | 0.3183 | likely_benign | 0.331 | benign | -1.077 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.47913874 | None | None | N |
| D/P | 0.986 | likely_pathogenic | 0.986 | pathogenic | 0.006 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| D/Q | 0.7867 | likely_pathogenic | 0.8055 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| D/R | 0.9135 | likely_pathogenic | 0.9205 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| D/S | 0.3143 | likely_benign | 0.3105 | benign | -1.399 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| D/T | 0.7339 | likely_pathogenic | 0.7686 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| D/V | 0.7093 | likely_pathogenic | 0.7551 | pathogenic | 0.006 | Stabilizing | 0.999 | D | 0.827 | deleterious | N | 0.508550075 | None | None | N |
| D/W | 0.9812 | likely_pathogenic | 0.9857 | pathogenic | -0.144 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| D/Y | 0.5289 | ambiguous | 0.5797 | pathogenic | -0.068 | Destabilizing | 0.884 | D | 0.5 | neutral | N | 0.508803565 | 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.