Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2823 | 8692;8693;8694 | chr2:178770234;178770233;178770232 | chr2:179634961;179634960;179634959 |
| N2AB | 2823 | 8692;8693;8694 | chr2:178770234;178770233;178770232 | chr2:179634961;179634960;179634959 |
| N2A | 2823 | 8692;8693;8694 | chr2:178770234;178770233;178770232 | chr2:179634961;179634960;179634959 |
| N2B | 2777 | 8554;8555;8556 | chr2:178770234;178770233;178770232 | chr2:179634961;179634960;179634959 |
| Novex-1 | 2777 | 8554;8555;8556 | chr2:178770234;178770233;178770232 | chr2:179634961;179634960;179634959 |
| Novex-2 | 2777 | 8554;8555;8556 | chr2:178770234;178770233;178770232 | chr2:179634961;179634960;179634959 |
| Novex-3 | 2823 | 8692;8693;8694 | chr2:178770234;178770233;178770232 | chr2:179634961;179634960;179634959 |
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/F | rs33917087  |
-1.527 | 0.997 | D | 0.785 | 0.424 | None | gnomAD-2.1.1 | 1.45513E-02 | None | None | None | None | N | None | 2.88462E-03 | 9.0324E-03 | None | 4.05484E-03 | 1.00311E-04 | None | 2.41704E-03 | None | 2.39612E-02 | 2.23383E-02 | 1.66389E-02 |
| V/F | rs33917087 |
-1.527 | 0.997 | D | 0.785 | 0.424 | None | gnomAD-3.1.2 | 1.55706E-02 | None | None | None | None | N | None | 3.66831E-03 | 1.59811E-02 | 1.12939E-01 | 6.05886E-03 | 0 | None | 2.33786E-02 | 9.49367E-03 | 2.28729E-02 | 2.07039E-03 | 1.52818E-02 |
| V/F | rs33917087 |
-1.527 | 0.997 | D | 0.785 | 0.424 | None | 1000 genomes | 7.58786E-03 | None | None | None | None | N | None | 8E-04 | 2.31E-02 | None | None | 0 | 1.79E-02 | None | None | None | 3.1E-03 | None |
| V/F | rs33917087 |
-1.527 | 0.997 | D | 0.785 | 0.424 | None | gnomAD-4.0.0 | 1.85661E-02 | None | None | None | None | N | None | 3.3583E-03 | 1.18647E-02 | None | 4.52672E-03 | 6.68598E-05 | None | 2.30531E-02 | 6.92841E-03 | 2.21007E-02 | 2.59101E-03 | 1.48931E-02 |
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 | 0.5701 | likely_pathogenic | 0.6573 | pathogenic | -1.324 | Destabilizing | 0.978 | D | 0.486 | neutral | N | 0.497479576 | None | None | N |
| V/C | 0.9214 | likely_pathogenic | 0.9442 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| V/D | 0.9644 | likely_pathogenic | 0.9646 | pathogenic | -1.315 | Destabilizing | 0.999 | D | 0.823 | deleterious | D | 0.574338801 | None | None | N |
| V/E | 0.8945 | likely_pathogenic | 0.8971 | pathogenic | -1.336 | Destabilizing | 0.999 | D | 0.781 | deleterious | None | None | None | None | N |
| V/F | 0.5056 | ambiguous | 0.461 | ambiguous | -1.113 | Destabilizing | 0.997 | D | 0.785 | deleterious | D | 0.572233192 | None | None | N |
| V/G | 0.842 | likely_pathogenic | 0.8693 | pathogenic | -1.615 | Destabilizing | 0.999 | D | 0.805 | deleterious | D | 0.556879528 | None | None | N |
| V/H | 0.9589 | likely_pathogenic | 0.9617 | pathogenic | -1.258 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| V/I | 0.0855 | likely_benign | 0.0848 | benign | -0.635 | Destabilizing | 0.37 | N | 0.247 | neutral | N | 0.493716847 | None | None | N |
| V/K | 0.9395 | likely_pathogenic | 0.9361 | pathogenic | -1.215 | Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| V/L | 0.4403 | ambiguous | 0.4606 | ambiguous | -0.635 | Destabilizing | 0.9 | D | 0.453 | neutral | N | 0.493457485 | None | None | N |
| V/M | 0.3268 | likely_benign | 0.3655 | ambiguous | -0.444 | Destabilizing | 0.998 | D | 0.735 | prob.delet. | None | None | None | None | N |
| V/N | 0.9099 | likely_pathogenic | 0.9208 | pathogenic | -0.919 | Destabilizing | 0.999 | D | 0.817 | deleterious | None | None | None | None | N |
| V/P | 0.9747 | likely_pathogenic | 0.968 | pathogenic | -0.83 | Destabilizing | 0.999 | D | 0.801 | deleterious | None | None | None | None | N |
| V/Q | 0.8887 | likely_pathogenic | 0.8974 | pathogenic | -1.099 | Destabilizing | 0.999 | D | 0.796 | deleterious | None | None | None | None | N |
| V/R | 0.9204 | likely_pathogenic | 0.9192 | pathogenic | -0.688 | Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | N |
| V/S | 0.7539 | likely_pathogenic | 0.8015 | pathogenic | -1.336 | Destabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | N |
| V/T | 0.6183 | likely_pathogenic | 0.6679 | pathogenic | -1.251 | Destabilizing | 0.992 | D | 0.679 | prob.neutral | None | None | None | None | N |
| V/W | 0.9791 | likely_pathogenic | 0.9807 | pathogenic | -1.313 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| V/Y | 0.9158 | likely_pathogenic | 0.9184 | pathogenic | -1.026 | Destabilizing | 0.999 | D | 0.788 | 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.