Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22455 | 67588;67589;67590 | chr2:178579834;178579833;178579832 | chr2:179444561;179444560;179444559 |
| N2AB | 20814 | 62665;62666;62667 | chr2:178579834;178579833;178579832 | chr2:179444561;179444560;179444559 |
| N2A | 19887 | 59884;59885;59886 | chr2:178579834;178579833;178579832 | chr2:179444561;179444560;179444559 |
| N2B | 13390 | 40393;40394;40395 | chr2:178579834;178579833;178579832 | chr2:179444561;179444560;179444559 |
| Novex-1 | 13515 | 40768;40769;40770 | chr2:178579834;178579833;178579832 | chr2:179444561;179444560;179444559 |
| Novex-2 | 13582 | 40969;40970;40971 | chr2:178579834;178579833;178579832 | chr2:179444561;179444560;179444559 |
| Novex-3 | None | None | chr2:None | chr2:None |
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 | rs759848349  |
-0.212 | 0.997 | N | 0.691 | 0.292 | 0.559348659643 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.6E-05 | 0 |
| V/I | rs759848349 |
-0.212 | 0.997 | N | 0.691 | 0.292 | 0.559348659643 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| V/I | rs759848349 |
-0.212 | 0.997 | N | 0.691 | 0.292 | 0.559348659643 | gnomAD-4.0.0 | 1.7978E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.45871E-05 | 0 | 0 |
| V/L | rs759848349 |
-0.208 | 0.997 | N | 0.819 | 0.353 | 0.482209950775 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/L | rs759848349 |
-0.208 | 0.997 | N | 0.819 | 0.353 | 0.482209950775 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/L | rs759848349 |
-0.208 | 0.997 | N | 0.819 | 0.353 | 0.482209950775 | gnomAD-4.0.0 | 3.09965E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39132E-06 | 1.0983E-05 | 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 | 0.526 | ambiguous | 0.5101 | ambiguous | -2.055 | Highly Destabilizing | 0.999 | D | 0.821 | deleterious | N | 0.483331652 | None | None | N |
| V/C | 0.9477 | likely_pathogenic | 0.9402 | pathogenic | -1.797 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| V/D | 0.9924 | likely_pathogenic | 0.9936 | pathogenic | -2.802 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | N | 0.489996926 | None | None | N |
| V/E | 0.9802 | likely_pathogenic | 0.9842 | pathogenic | -2.576 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| V/F | 0.9354 | likely_pathogenic | 0.9336 | pathogenic | -1.175 | Destabilizing | 1.0 | D | 0.862 | deleterious | N | 0.489489947 | None | None | N |
| V/G | 0.8824 | likely_pathogenic | 0.8848 | pathogenic | -2.605 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.523082119 | None | None | N |
| V/H | 0.9971 | likely_pathogenic | 0.9974 | pathogenic | -2.412 | Highly Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| V/I | 0.1596 | likely_benign | 0.1484 | benign | -0.518 | Destabilizing | 0.997 | D | 0.691 | prob.neutral | N | 0.469104287 | None | None | N |
| V/K | 0.9917 | likely_pathogenic | 0.9933 | pathogenic | -1.7 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| V/L | 0.7434 | likely_pathogenic | 0.7156 | pathogenic | -0.518 | Destabilizing | 0.997 | D | 0.819 | deleterious | N | 0.476866194 | None | None | N |
| V/M | 0.8056 | likely_pathogenic | 0.781 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| V/N | 0.9793 | likely_pathogenic | 0.9817 | pathogenic | -2.058 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| V/P | 0.3858 | ambiguous | 0.3984 | ambiguous | -1.003 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| V/Q | 0.9862 | likely_pathogenic | 0.9882 | pathogenic | -1.886 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| V/R | 0.9832 | likely_pathogenic | 0.9866 | pathogenic | -1.589 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| V/S | 0.8982 | likely_pathogenic | 0.8998 | pathogenic | -2.664 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| V/T | 0.7645 | likely_pathogenic | 0.7695 | pathogenic | -2.291 | Highly Destabilizing | 0.999 | D | 0.801 | deleterious | None | None | None | None | N |
| V/W | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| V/Y | 0.9952 | likely_pathogenic | 0.9953 | pathogenic | -1.325 | Destabilizing | 1.0 | D | 0.856 | 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.