Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35785 | 107578;107579;107580 | chr2:178528298;178528297;178528296 | chr2:179393025;179393024;179393023 |
| N2AB | 34144 | 102655;102656;102657 | chr2:178528298;178528297;178528296 | chr2:179393025;179393024;179393023 |
| N2A | 33217 | 99874;99875;99876 | chr2:178528298;178528297;178528296 | chr2:179393025;179393024;179393023 |
| N2B | 26720 | 80383;80384;80385 | chr2:178528298;178528297;178528296 | chr2:179393025;179393024;179393023 |
| Novex-1 | 26845 | 80758;80759;80760 | chr2:178528298;178528297;178528296 | chr2:179393025;179393024;179393023 |
| Novex-2 | 26912 | 80959;80960;80961 | chr2:178528298;178528297;178528296 | chr2:179393025;179393024;179393023 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs1455841939  |
-0.148 | 1.0 | D | 0.863 | 0.751 | 0.573648845035 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| A/P | rs1455841939 |
-0.148 | 1.0 | D | 0.863 | 0.751 | 0.573648845035 | gnomAD-4.0.0 | 1.59124E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85804E-06 | 0 | 0 |
| A/S | rs1455841939 |
-0.814 | 1.0 | N | 0.619 | 0.369 | 0.417843521124 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/S | rs1455841939 |
-0.814 | 1.0 | N | 0.619 | 0.369 | 0.417843521124 | gnomAD-4.0.0 | 1.59124E-06 | None | None | None | None | N | None | 0 | 2.28707E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8392 | likely_pathogenic | 0.8409 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| A/D | 0.8714 | likely_pathogenic | 0.843 | pathogenic | -1.061 | Destabilizing | 1.0 | D | 0.883 | deleterious | N | 0.49856048 | None | None | N |
| A/E | 0.8348 | likely_pathogenic | 0.7945 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/F | 0.8601 | likely_pathogenic | 0.8387 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| A/G | 0.3496 | ambiguous | 0.3695 | ambiguous | -1.207 | Destabilizing | 1.0 | D | 0.607 | neutral | N | 0.50771474 | None | None | N |
| A/H | 0.946 | likely_pathogenic | 0.9253 | pathogenic | -1.418 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| A/I | 0.7665 | likely_pathogenic | 0.725 | pathogenic | -0.132 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/K | 0.9474 | likely_pathogenic | 0.924 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/L | 0.6965 | likely_pathogenic | 0.6726 | pathogenic | -0.132 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| A/M | 0.7008 | likely_pathogenic | 0.6575 | pathogenic | -0.167 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/N | 0.8415 | likely_pathogenic | 0.8175 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| A/P | 0.9923 | likely_pathogenic | 0.9948 | pathogenic | -0.339 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.526072484 | None | None | N |
| A/Q | 0.855 | likely_pathogenic | 0.8183 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/R | 0.914 | likely_pathogenic | 0.8834 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| A/S | 0.1809 | likely_benign | 0.1774 | benign | -1.339 | Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.504872865 | None | None | N |
| A/T | 0.2502 | likely_benign | 0.228 | benign | -1.199 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.518591524 | None | None | N |
| A/V | 0.433 | ambiguous | 0.3879 | ambiguous | -0.339 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | D | 0.537428001 | None | None | N |
| A/W | 0.988 | likely_pathogenic | 0.9879 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/Y | 0.9392 | likely_pathogenic | 0.9275 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.899 | 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.