Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33375 | 100348;100349;100350 | chr2:178536986;178536985;178536984 | chr2:179401713;179401712;179401711 |
| N2AB | 31734 | 95425;95426;95427 | chr2:178536986;178536985;178536984 | chr2:179401713;179401712;179401711 |
| N2A | 30807 | 92644;92645;92646 | chr2:178536986;178536985;178536984 | chr2:179401713;179401712;179401711 |
| N2B | 24310 | 73153;73154;73155 | chr2:178536986;178536985;178536984 | chr2:179401713;179401712;179401711 |
| Novex-1 | 24435 | 73528;73529;73530 | chr2:178536986;178536985;178536984 | chr2:179401713;179401712;179401711 |
| Novex-2 | 24502 | 73729;73730;73731 | chr2:178536986;178536985;178536984 | chr2:179401713;179401712;179401711 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/T | rs758043383  |
-1.015 | 0.999 | D | 0.732 | 0.563 | 0.299086750705 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.85E-05 | None | 0 | 0 | 0 |
| S/T | rs758043383 |
-1.015 | 0.999 | D | 0.732 | 0.563 | 0.299086750705 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07555E-04 | 0 |
| S/T | rs758043383 |
-1.015 | 0.999 | D | 0.732 | 0.563 | 0.299086750705 | gnomAD-4.0.0 | 6.19876E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47746E-07 | 8.79411E-05 | 1.60164E-05 |
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 | 0.584 | likely_pathogenic | 0.4964 | ambiguous | -0.823 | Destabilizing | 0.998 | D | 0.725 | prob.delet. | None | None | None | None | N |
| S/C | 0.8329 | likely_pathogenic | 0.734 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.549122311 | None | None | N |
| S/D | 0.9951 | likely_pathogenic | 0.9925 | pathogenic | -1.317 | Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| S/E | 0.9978 | likely_pathogenic | 0.9968 | pathogenic | -1.243 | Destabilizing | 0.999 | D | 0.752 | deleterious | None | None | None | None | N |
| S/F | 0.998 | likely_pathogenic | 0.9963 | pathogenic | -0.755 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| S/G | 0.3176 | likely_benign | 0.3107 | benign | -1.131 | Destabilizing | 0.999 | D | 0.746 | deleterious | N | 0.48747553 | None | None | N |
| S/H | 0.9954 | likely_pathogenic | 0.9922 | pathogenic | -1.488 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| S/I | 0.9973 | likely_pathogenic | 0.9943 | pathogenic | -0.089 | Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.548615332 | None | None | N |
| S/K | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -0.9 | Destabilizing | 0.999 | D | 0.77 | deleterious | None | None | None | None | N |
| S/L | 0.9842 | likely_pathogenic | 0.9659 | pathogenic | -0.089 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| S/M | 0.9929 | likely_pathogenic | 0.9863 | pathogenic | 0.075 | Stabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| S/N | 0.9807 | likely_pathogenic | 0.966 | pathogenic | -1.197 | Destabilizing | 0.999 | D | 0.743 | deleterious | D | 0.548361843 | None | None | N |
| S/P | 0.9967 | likely_pathogenic | 0.9918 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| S/Q | 0.9968 | likely_pathogenic | 0.9952 | pathogenic | -1.268 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| S/R | 0.9988 | likely_pathogenic | 0.9979 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.52924363 | None | None | N |
| S/T | 0.8072 | likely_pathogenic | 0.6935 | pathogenic | -1.034 | Destabilizing | 0.999 | D | 0.732 | prob.delet. | D | 0.530004098 | None | None | N |
| S/V | 0.9945 | likely_pathogenic | 0.9889 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| S/W | 0.9982 | likely_pathogenic | 0.9966 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| S/Y | 0.9967 | likely_pathogenic | 0.9938 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.914 | 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.