Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2198 | 6817;6818;6819 | chr2:178775119;178775118;178775117 | chr2:179639846;179639845;179639844 |
| N2AB | 2198 | 6817;6818;6819 | chr2:178775119;178775118;178775117 | chr2:179639846;179639845;179639844 |
| N2A | 2198 | 6817;6818;6819 | chr2:178775119;178775118;178775117 | chr2:179639846;179639845;179639844 |
| N2B | 2152 | 6679;6680;6681 | chr2:178775119;178775118;178775117 | chr2:179639846;179639845;179639844 |
| Novex-1 | 2152 | 6679;6680;6681 | chr2:178775119;178775118;178775117 | chr2:179639846;179639845;179639844 |
| Novex-2 | 2152 | 6679;6680;6681 | chr2:178775119;178775118;178775117 | chr2:179639846;179639845;179639844 |
| Novex-3 | 2198 | 6817;6818;6819 | chr2:178775119;178775118;178775117 | chr2:179639846;179639845;179639844 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.995 | N | 0.631 | 0.231 | 0.257292322809 | gnomAD-4.0.0 | 1.36823E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79865E-06 | 0 | 0 |
| T/I | rs886038879  |
-0.251 | 0.994 | N | 0.785 | 0.375 | 0.435262743402 | 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 |
| T/I | rs886038879 |
-0.251 | 0.994 | N | 0.785 | 0.375 | 0.435262743402 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs886038879 |
-0.251 | 0.994 | N | 0.785 | 0.375 | 0.435262743402 | gnomAD-4.0.0 | 2.56157E-06 | None | None | None | None | N | None | 1.69205E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39188E-06 | 0 | 0 |
| T/S | None | None | 0.998 | D | 0.638 | 0.311 | 0.370051654043 | gnomAD-4.0.0 | 6.84115E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99324E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.4056 | ambiguous | 0.4257 | ambiguous | -1.333 | Destabilizing | 0.995 | D | 0.631 | neutral | N | 0.502183208 | None | None | N |
| T/C | 0.8743 | likely_pathogenic | 0.8354 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| T/D | 0.9861 | likely_pathogenic | 0.9888 | pathogenic | -2.5 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| T/E | 0.9861 | likely_pathogenic | 0.9887 | pathogenic | -2.265 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| T/F | 0.9635 | likely_pathogenic | 0.9687 | pathogenic | -0.921 | Destabilizing | 0.998 | D | 0.859 | deleterious | None | None | None | None | N |
| T/G | 0.8389 | likely_pathogenic | 0.8412 | pathogenic | -1.7 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| T/H | 0.973 | likely_pathogenic | 0.9757 | pathogenic | -1.777 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| T/I | 0.6904 | likely_pathogenic | 0.7086 | pathogenic | -0.358 | Destabilizing | 0.994 | D | 0.785 | deleterious | N | 0.485288361 | None | None | N |
| T/K | 0.9766 | likely_pathogenic | 0.9824 | pathogenic | -0.782 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| T/L | 0.5251 | ambiguous | 0.5443 | ambiguous | -0.358 | Destabilizing | 0.284 | N | 0.456 | neutral | None | None | None | None | N |
| T/M | 0.3914 | ambiguous | 0.4056 | ambiguous | -0.608 | Destabilizing | 0.999 | D | 0.859 | deleterious | None | None | None | None | N |
| T/N | 0.8308 | likely_pathogenic | 0.8597 | pathogenic | -1.698 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.605973943 | None | None | N |
| T/P | 0.8739 | likely_pathogenic | 0.9031 | pathogenic | -0.657 | Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.505239937 | None | None | N |
| T/Q | 0.9726 | likely_pathogenic | 0.9764 | pathogenic | -1.328 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| T/R | 0.9714 | likely_pathogenic | 0.9775 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| T/S | 0.5302 | ambiguous | 0.5335 | ambiguous | -1.747 | Destabilizing | 0.998 | D | 0.638 | neutral | D | 0.605842024 | None | None | N |
| T/V | 0.4613 | ambiguous | 0.4659 | ambiguous | -0.657 | Destabilizing | 0.984 | D | 0.628 | neutral | None | None | None | None | N |
| T/W | 0.9962 | likely_pathogenic | 0.9964 | pathogenic | -1.309 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| T/Y | 0.9794 | likely_pathogenic | 0.9828 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.877 | 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.