Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2825 | 8698;8699;8700 | chr2:178770228;178770227;178770226 | chr2:179634955;179634954;179634953 |
| N2AB | 2825 | 8698;8699;8700 | chr2:178770228;178770227;178770226 | chr2:179634955;179634954;179634953 |
| N2A | 2825 | 8698;8699;8700 | chr2:178770228;178770227;178770226 | chr2:179634955;179634954;179634953 |
| N2B | 2779 | 8560;8561;8562 | chr2:178770228;178770227;178770226 | chr2:179634955;179634954;179634953 |
| Novex-1 | 2779 | 8560;8561;8562 | chr2:178770228;178770227;178770226 | chr2:179634955;179634954;179634953 |
| Novex-2 | 2779 | 8560;8561;8562 | chr2:178770228;178770227;178770226 | chr2:179634955;179634954;179634953 |
| Novex-3 | 2825 | 8698;8699;8700 | chr2:178770228;178770227;178770226 | chr2:179634955;179634954;179634953 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs776670775  |
-0.637 | 0.997 | D | 0.629 | 0.341 | 0.64144316844 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/I | rs776670775 |
-0.637 | 0.997 | D | 0.629 | 0.341 | 0.64144316844 | gnomAD-4.0.0 | 6.84067E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 0 |
| V/L | None | None | 0.997 | D | 0.66 | 0.445 | 0.660788651602 | gnomAD-4.0.0 | 2.73627E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59717E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7334 | likely_pathogenic | 0.8261 | pathogenic | -1.791 | Destabilizing | 0.999 | D | 0.631 | neutral | D | 0.654561246 | None | None | N |
| V/C | 0.9277 | likely_pathogenic | 0.9633 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| V/D | 0.9967 | likely_pathogenic | 0.9982 | pathogenic | -2.275 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| V/E | 0.9893 | likely_pathogenic | 0.993 | pathogenic | -2.132 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.730081404 | None | None | N |
| V/F | 0.7691 | likely_pathogenic | 0.8848 | pathogenic | -1.175 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| V/G | 0.9088 | likely_pathogenic | 0.9404 | pathogenic | -2.216 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.631676205 | None | None | N |
| V/H | 0.9964 | likely_pathogenic | 0.9983 | pathogenic | -1.849 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| V/I | 0.0964 | likely_benign | 0.1222 | benign | -0.641 | Destabilizing | 0.997 | D | 0.629 | neutral | D | 0.526594336 | None | None | N |
| V/K | 0.994 | likely_pathogenic | 0.9963 | pathogenic | -1.573 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| V/L | 0.5439 | ambiguous | 0.7422 | pathogenic | -0.641 | Destabilizing | 0.997 | D | 0.66 | neutral | D | 0.597372971 | None | None | N |
| V/M | 0.4939 | ambiguous | 0.7016 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| V/N | 0.9875 | likely_pathogenic | 0.9936 | pathogenic | -1.64 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| V/P | 0.9832 | likely_pathogenic | 0.9893 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| V/Q | 0.9863 | likely_pathogenic | 0.992 | pathogenic | -1.636 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| V/R | 0.9897 | likely_pathogenic | 0.9927 | pathogenic | -1.232 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| V/S | 0.9214 | likely_pathogenic | 0.9557 | pathogenic | -2.135 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| V/T | 0.815 | likely_pathogenic | 0.8854 | pathogenic | -1.873 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | None | None | None | None | N |
| V/W | 0.9958 | likely_pathogenic | 0.9985 | pathogenic | -1.595 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| V/Y | 0.9857 | likely_pathogenic | 0.9934 | pathogenic | -1.213 | Destabilizing | 1.0 | D | 0.795 | 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.