Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1032 | 3319;3320;3321 | chr2:178782812;178782811;178782810 | chr2:179647539;179647538;179647537 |
| N2AB | 1032 | 3319;3320;3321 | chr2:178782812;178782811;178782810 | chr2:179647539;179647538;179647537 |
| N2A | 1032 | 3319;3320;3321 | chr2:178782812;178782811;178782810 | chr2:179647539;179647538;179647537 |
| N2B | 986 | 3181;3182;3183 | chr2:178782812;178782811;178782810 | chr2:179647539;179647538;179647537 |
| Novex-1 | 986 | 3181;3182;3183 | chr2:178782812;178782811;178782810 | chr2:179647539;179647538;179647537 |
| Novex-2 | 986 | 3181;3182;3183 | chr2:178782812;178782811;178782810 | chr2:179647539;179647538;179647537 |
| Novex-3 | 1032 | 3319;3320;3321 | chr2:178782812;178782811;178782810 | chr2:179647539;179647538;179647537 |
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/L | None | None | 0.997 | D | 0.777 | 0.514 | 0.753059480377 | gnomAD-4.0.0 | 1.59383E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85791E-06 | 0 | 0 |
| V/M | rs768869901  |
-0.892 | 1.0 | D | 0.875 | 0.553 | 0.774748546493 | gnomAD-2.1.1 | 7.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 9.25E-05 | 0 | 0 |
| V/M | rs768869901 |
-0.892 | 1.0 | D | 0.875 | 0.553 | 0.774748546493 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 1.88288E-04 | 0 | 0 | 0 | 0 |
| V/M | rs768869901 |
-0.892 | 1.0 | D | 0.875 | 0.553 | 0.774748546493 | gnomAD-4.0.0 | 6.4133E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.70633E-05 | 0 | 4.78535E-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 | 0.9675 | likely_pathogenic | 0.9662 | pathogenic | -1.635 | Destabilizing | 0.999 | D | 0.764 | deleterious | D | 0.72935512 | None | None | N |
| V/C | 0.993 | likely_pathogenic | 0.9926 | pathogenic | -1.494 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| V/D | 0.999 | likely_pathogenic | 0.999 | pathogenic | -2.334 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| V/E | 0.9925 | likely_pathogenic | 0.9937 | pathogenic | -2.326 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.765063547 | None | None | N |
| V/F | 0.9774 | likely_pathogenic | 0.9771 | pathogenic | -1.389 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| V/G | 0.9781 | likely_pathogenic | 0.9777 | pathogenic | -1.931 | Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.765063547 | None | None | N |
| V/H | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.385 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| V/I | 0.2776 | likely_benign | 0.2689 | benign | -0.906 | Destabilizing | 0.998 | D | 0.738 | prob.delet. | None | None | None | None | N |
| V/K | 0.996 | likely_pathogenic | 0.9964 | pathogenic | -1.292 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/L | 0.935 | likely_pathogenic | 0.9302 | pathogenic | -0.906 | Destabilizing | 0.997 | D | 0.777 | deleterious | D | 0.664079093 | None | None | N |
| V/M | 0.9454 | likely_pathogenic | 0.9456 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.728839804 | None | None | N |
| V/N | 0.9959 | likely_pathogenic | 0.9962 | pathogenic | -1.285 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| V/P | 0.9952 | likely_pathogenic | 0.9953 | pathogenic | -1.119 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| V/Q | 0.9959 | likely_pathogenic | 0.9964 | pathogenic | -1.529 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| V/R | 0.9927 | likely_pathogenic | 0.9935 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| V/S | 0.9851 | likely_pathogenic | 0.9857 | pathogenic | -1.718 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| V/T | 0.9629 | likely_pathogenic | 0.9638 | pathogenic | -1.612 | Destabilizing | 0.999 | D | 0.827 | deleterious | None | None | None | None | N |
| V/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.571 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| V/Y | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -1.256 | Destabilizing | 1.0 | D | 0.885 | 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.