Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33353 | 100282;100283;100284 | chr2:178537052;178537051;178537050 | chr2:179401779;179401778;179401777 |
| N2AB | 31712 | 95359;95360;95361 | chr2:178537052;178537051;178537050 | chr2:179401779;179401778;179401777 |
| N2A | 30785 | 92578;92579;92580 | chr2:178537052;178537051;178537050 | chr2:179401779;179401778;179401777 |
| N2B | 24288 | 73087;73088;73089 | chr2:178537052;178537051;178537050 | chr2:179401779;179401778;179401777 |
| Novex-1 | 24413 | 73462;73463;73464 | chr2:178537052;178537051;178537050 | chr2:179401779;179401778;179401777 |
| Novex-2 | 24480 | 73663;73664;73665 | chr2:178537052;178537051;178537050 | chr2:179401779;179401778;179401777 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | None | None | 0.994 | N | 0.694 | 0.279 | 0.445410361449 | gnomAD-4.0.0 | 6.84473E-07 | None | None | None | None | N | None | 2.98972E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs138234724  |
-2.678 | 0.961 | N | 0.761 | 0.416 | None | gnomAD-2.1.1 | 4.3E-05 | None | None | None | None | N | None | 4.57038E-04 | 0 | None | 0 | 0 | None | 0 | None | 4.01E-05 | 0 | 0 |
| I/T | rs138234724 |
-2.678 | 0.961 | N | 0.761 | 0.416 | None | gnomAD-3.1.2 | 1.05133E-04 | None | None | None | None | N | None | 3.85989E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs138234724 |
-2.678 | 0.961 | N | 0.761 | 0.416 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 1.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| I/T | rs138234724 |
-2.678 | 0.961 | N | 0.761 | 0.416 | None | gnomAD-4.0.0 | 2.60337E-05 | None | None | None | None | N | None | 4.93176E-04 | 1.66856E-05 | None | 0 | 0 | None | 1.56353E-05 | 0 | 2.54328E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8481 | likely_pathogenic | 0.8553 | pathogenic | -2.421 | Highly Destabilizing | 0.931 | D | 0.736 | prob.delet. | None | None | None | None | N |
| I/C | 0.9601 | likely_pathogenic | 0.955 | pathogenic | -1.722 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| I/D | 0.9978 | likely_pathogenic | 0.9978 | pathogenic | -2.357 | Highly Destabilizing | 0.999 | D | 0.844 | deleterious | None | None | None | None | N |
| I/E | 0.9926 | likely_pathogenic | 0.9932 | pathogenic | -2.126 | Highly Destabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | N |
| I/F | 0.6651 | likely_pathogenic | 0.6232 | pathogenic | -1.401 | Destabilizing | 0.994 | D | 0.737 | prob.delet. | N | 0.468103555 | None | None | N |
| I/G | 0.9895 | likely_pathogenic | 0.9898 | pathogenic | -2.975 | Highly Destabilizing | 0.999 | D | 0.807 | deleterious | None | None | None | None | N |
| I/H | 0.9938 | likely_pathogenic | 0.9932 | pathogenic | -2.285 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| I/K | 0.9912 | likely_pathogenic | 0.9915 | pathogenic | -1.922 | Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| I/L | 0.3692 | ambiguous | 0.3512 | ambiguous | -0.828 | Destabilizing | 0.689 | D | 0.4 | neutral | N | 0.466855116 | None | None | N |
| I/M | 0.3393 | likely_benign | 0.3201 | benign | -0.751 | Destabilizing | 0.994 | D | 0.694 | prob.neutral | N | 0.476171859 | None | None | N |
| I/N | 0.9752 | likely_pathogenic | 0.9742 | pathogenic | -2.253 | Highly Destabilizing | 0.998 | D | 0.843 | deleterious | N | 0.494783093 | None | None | N |
| I/P | 0.9904 | likely_pathogenic | 0.9909 | pathogenic | -1.338 | Destabilizing | 0.999 | D | 0.844 | deleterious | None | None | None | None | N |
| I/Q | 0.9898 | likely_pathogenic | 0.9903 | pathogenic | -2.087 | Highly Destabilizing | 0.999 | D | 0.839 | deleterious | None | None | None | None | N |
| I/R | 0.9864 | likely_pathogenic | 0.9874 | pathogenic | -1.67 | Destabilizing | 0.999 | D | 0.845 | deleterious | None | None | None | None | N |
| I/S | 0.9508 | likely_pathogenic | 0.9517 | pathogenic | -3.006 | Highly Destabilizing | 0.994 | D | 0.794 | deleterious | N | 0.505632419 | None | None | N |
| I/T | 0.8531 | likely_pathogenic | 0.8452 | pathogenic | -2.612 | Highly Destabilizing | 0.961 | D | 0.761 | deleterious | N | 0.476425348 | None | None | N |
| I/V | 0.1105 | likely_benign | 0.0973 | benign | -1.338 | Destabilizing | 0.044 | N | 0.217 | neutral | N | 0.359266291 | None | None | N |
| I/W | 0.9933 | likely_pathogenic | 0.9923 | pathogenic | -1.706 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| I/Y | 0.9745 | likely_pathogenic | 0.9724 | pathogenic | -1.42 | Destabilizing | 0.999 | D | 0.784 | 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.