Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16165 | 48718;48719;48720 | chr2:178615452;178615451;178615450 | chr2:179480179;179480178;179480177 |
| N2AB | 14524 | 43795;43796;43797 | chr2:178615452;178615451;178615450 | chr2:179480179;179480178;179480177 |
| N2A | 13597 | 41014;41015;41016 | chr2:178615452;178615451;178615450 | chr2:179480179;179480178;179480177 |
| N2B | 7100 | 21523;21524;21525 | chr2:178615452;178615451;178615450 | chr2:179480179;179480178;179480177 |
| Novex-1 | 7225 | 21898;21899;21900 | chr2:178615452;178615451;178615450 | chr2:179480179;179480178;179480177 |
| Novex-2 | 7292 | 22099;22100;22101 | chr2:178615452;178615451;178615450 | chr2:179480179;179480178;179480177 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs1404754680  |
-0.246 | 1.0 | N | 0.641 | 0.349 | 0.509403866704 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/G | rs1404754680 |
-0.246 | 1.0 | N | 0.641 | 0.349 | 0.509403866704 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/G | rs1404754680 |
-0.246 | 1.0 | N | 0.641 | 0.349 | 0.509403866704 | gnomAD-4.0.0 | 2.56701E-06 | None | None | None | None | N | None | 3.38868E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.8038 | likely_pathogenic | 0.8376 | pathogenic | -0.398 | Destabilizing | 0.999 | D | 0.644 | neutral | None | None | None | None | N |
| R/C | 0.5076 | ambiguous | 0.5405 | ambiguous | -0.481 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| R/D | 0.9211 | likely_pathogenic | 0.9369 | pathogenic | 0.025 | Stabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| R/E | 0.6475 | likely_pathogenic | 0.6914 | pathogenic | 0.15 | Stabilizing | 0.999 | D | 0.687 | prob.neutral | None | None | None | None | N |
| R/F | 0.8672 | likely_pathogenic | 0.8982 | pathogenic | -0.322 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| R/G | 0.7091 | likely_pathogenic | 0.7495 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.641 | neutral | N | 0.481272866 | None | None | N |
| R/H | 0.2517 | likely_benign | 0.2702 | benign | -1.125 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| R/I | 0.5792 | likely_pathogenic | 0.6417 | pathogenic | 0.343 | Stabilizing | 1.0 | D | 0.752 | deleterious | N | 0.477134045 | None | None | N |
| R/K | 0.1724 | likely_benign | 0.1885 | benign | -0.343 | Destabilizing | 0.997 | D | 0.547 | neutral | N | 0.465999278 | None | None | N |
| R/L | 0.5764 | likely_pathogenic | 0.6248 | pathogenic | 0.343 | Stabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| R/M | 0.6051 | likely_pathogenic | 0.6506 | pathogenic | -0.187 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| R/N | 0.8532 | likely_pathogenic | 0.8852 | pathogenic | -0.107 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| R/P | 0.9724 | likely_pathogenic | 0.9789 | pathogenic | 0.118 | Stabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| R/Q | 0.2161 | likely_benign | 0.2293 | benign | -0.16 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| R/S | 0.8463 | likely_pathogenic | 0.8718 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.378844461 | None | None | N |
| R/T | 0.569 | likely_pathogenic | 0.6328 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | N | 0.411281811 | None | None | N |
| R/V | 0.649 | likely_pathogenic | 0.7054 | pathogenic | 0.118 | Stabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| R/W | 0.4421 | ambiguous | 0.4688 | ambiguous | -0.171 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| R/Y | 0.7332 | likely_pathogenic | 0.7749 | pathogenic | 0.171 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | 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.