Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2631 | 8116;8117;8118 | chr2:178771436;178771435;178771434 | chr2:179636163;179636162;179636161 |
| N2AB | 2631 | 8116;8117;8118 | chr2:178771436;178771435;178771434 | chr2:179636163;179636162;179636161 |
| N2A | 2631 | 8116;8117;8118 | chr2:178771436;178771435;178771434 | chr2:179636163;179636162;179636161 |
| N2B | 2585 | 7978;7979;7980 | chr2:178771436;178771435;178771434 | chr2:179636163;179636162;179636161 |
| Novex-1 | 2585 | 7978;7979;7980 | chr2:178771436;178771435;178771434 | chr2:179636163;179636162;179636161 |
| Novex-2 | 2585 | 7978;7979;7980 | chr2:178771436;178771435;178771434 | chr2:179636163;179636162;179636161 |
| Novex-3 | 2631 | 8116;8117;8118 | chr2:178771436;178771435;178771434 | chr2:179636163;179636162;179636161 |
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 | rs766753906  |
-0.749 | 0.999 | N | 0.481 | 0.397 | None | gnomAD-2.1.1 | 3.89E-05 | None | None | None | None | N | None | 1.20135E-04 | 8.47E-05 | None | 0 | 0 | None | 0 | None | 0 | 3.88E-05 | 0 |
| V/I | rs766753906 |
-0.749 | 0.999 | N | 0.481 | 0.397 | None | gnomAD-3.1.2 | 6.57E-05 | None | None | None | None | N | None | 1.44837E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 2.07039E-04 | 0 |
| V/I | rs766753906 |
-0.749 | 0.999 | N | 0.481 | 0.397 | None | gnomAD-4.0.0 | 3.03636E-05 | None | None | None | None | N | None | 1.46866E-04 | 5.00183E-05 | None | 0 | 0 | None | 0 | 0 | 2.45794E-05 | 3.29366E-05 | 4.80215E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2913 | likely_benign | 0.2996 | benign | -1.689 | Destabilizing | 0.999 | D | 0.486 | neutral | D | 0.562450162 | None | None | N |
| V/C | 0.9155 | likely_pathogenic | 0.9248 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| V/D | 0.926 | likely_pathogenic | 0.9111 | pathogenic | -1.873 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| V/E | 0.8105 | likely_pathogenic | 0.7928 | pathogenic | -1.874 | Destabilizing | 1.0 | D | 0.762 | deleterious | D | 0.701006267 | None | None | N |
| V/F | 0.519 | ambiguous | 0.5198 | ambiguous | -1.368 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| V/G | 0.6218 | likely_pathogenic | 0.6115 | pathogenic | -2.004 | Highly Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.662881408 | None | None | N |
| V/H | 0.946 | likely_pathogenic | 0.9441 | pathogenic | -1.487 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| V/I | 0.1091 | likely_benign | 0.1174 | benign | -0.914 | Destabilizing | 0.999 | D | 0.481 | neutral | N | 0.515430035 | None | None | N |
| V/K | 0.8079 | likely_pathogenic | 0.7975 | pathogenic | -1.337 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| V/L | 0.5286 | ambiguous | 0.5547 | ambiguous | -0.914 | Destabilizing | 0.999 | D | 0.491 | neutral | D | 0.581196769 | None | None | N |
| V/M | 0.3583 | ambiguous | 0.372 | ambiguous | -0.732 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| V/N | 0.8531 | likely_pathogenic | 0.8531 | pathogenic | -1.18 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| V/P | 0.9851 | likely_pathogenic | 0.9784 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| V/Q | 0.8085 | likely_pathogenic | 0.8056 | pathogenic | -1.402 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| V/R | 0.7591 | likely_pathogenic | 0.7436 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| V/S | 0.5883 | likely_pathogenic | 0.5934 | pathogenic | -1.677 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| V/T | 0.3165 | likely_benign | 0.3336 | benign | -1.577 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | N |
| V/W | 0.9859 | likely_pathogenic | 0.9856 | pathogenic | -1.544 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| V/Y | 0.9235 | likely_pathogenic | 0.9221 | pathogenic | -1.264 | Destabilizing | 1.0 | D | 0.793 | 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.