Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35490 | 106693;106694;106695 | chr2:178530023;178530022;178530021 | chr2:179394750;179394749;179394748 |
| N2AB | 33849 | 101770;101771;101772 | chr2:178530023;178530022;178530021 | chr2:179394750;179394749;179394748 |
| N2A | 32922 | 98989;98990;98991 | chr2:178530023;178530022;178530021 | chr2:179394750;179394749;179394748 |
| N2B | 26425 | 79498;79499;79500 | chr2:178530023;178530022;178530021 | chr2:179394750;179394749;179394748 |
| Novex-1 | 26550 | 79873;79874;79875 | chr2:178530023;178530022;178530021 | chr2:179394750;179394749;179394748 |
| Novex-2 | 26617 | 80074;80075;80076 | chr2:178530023;178530022;178530021 | chr2:179394750;179394749;179394748 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/D | None | None | 0.939 | D | 0.892 | 0.785 | 0.88947283604 | gnomAD-4.0.0 | 2.05798E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73611E-04 | 0 | 1.17952E-05 | 1.65937E-05 |
| Y/H | rs199663911  |
-2.503 | 0.939 | D | 0.701 | 0.665 | None | gnomAD-2.1.1 | 1.62791E-04 | None | None | None | None | N | None | 0 | 0 | None | 3.51906E-03 | 0 | None | 0 | None | 0 | 5.5E-05 | 2.83447E-04 |
| Y/H | rs199663911 |
-2.503 | 0.939 | D | 0.701 | 0.665 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 1.7301E-03 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| Y/H | rs199663911 |
-2.503 | 0.939 | D | 0.701 | 0.665 | None | gnomAD-4.0.0 | 7.01884E-05 | None | None | None | None | N | None | 0 | 0 | None | 2.84842E-03 | 0 | None | 0 | 0 | 1.95087E-05 | 1.1159E-05 | 8.01822E-05 |
| Y/N | rs199663911 |
-2.789 | 0.939 | D | 0.878 | 0.756 | 0.890244917997 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.64E-05 | None | 0 | None | 0 | 0 | 0 |
| Y/N | rs199663911 |
-2.789 | 0.939 | D | 0.878 | 0.756 | 0.890244917997 | gnomAD-4.0.0 | 6.85993E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52653E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.986 | likely_pathogenic | 0.9856 | pathogenic | -2.107 | Highly Destabilizing | 0.484 | N | 0.836 | deleterious | None | None | None | None | N |
| Y/C | 0.8276 | likely_pathogenic | 0.8177 | pathogenic | -1.415 | Destabilizing | 0.983 | D | 0.868 | deleterious | D | 0.61720571 | None | None | N |
| Y/D | 0.993 | likely_pathogenic | 0.9922 | pathogenic | -2.882 | Highly Destabilizing | 0.939 | D | 0.892 | deleterious | D | 0.642511657 | None | None | N |
| Y/E | 0.9965 | likely_pathogenic | 0.9962 | pathogenic | -2.635 | Highly Destabilizing | 0.87 | D | 0.866 | deleterious | None | None | None | None | N |
| Y/F | 0.1336 | likely_benign | 0.1328 | benign | -0.816 | Destabilizing | 0.002 | N | 0.369 | neutral | D | 0.560659335 | None | None | N |
| Y/G | 0.9817 | likely_pathogenic | 0.9808 | pathogenic | -2.549 | Highly Destabilizing | 0.87 | D | 0.869 | deleterious | None | None | None | None | N |
| Y/H | 0.9041 | likely_pathogenic | 0.895 | pathogenic | -2.3 | Highly Destabilizing | 0.939 | D | 0.701 | prob.neutral | D | 0.626290492 | None | None | N |
| Y/I | 0.819 | likely_pathogenic | 0.811 | pathogenic | -0.637 | Destabilizing | 0.622 | D | 0.788 | deleterious | None | None | None | None | N |
| Y/K | 0.9959 | likely_pathogenic | 0.9953 | pathogenic | -1.764 | Destabilizing | 0.87 | D | 0.864 | deleterious | None | None | None | None | N |
| Y/L | 0.6431 | likely_pathogenic | 0.6322 | pathogenic | -0.637 | Destabilizing | 0.32 | N | 0.763 | deleterious | None | None | None | None | N |
| Y/M | 0.9399 | likely_pathogenic | 0.9375 | pathogenic | -0.771 | Destabilizing | 0.962 | D | 0.799 | deleterious | None | None | None | None | N |
| Y/N | 0.9626 | likely_pathogenic | 0.9593 | pathogenic | -2.688 | Highly Destabilizing | 0.939 | D | 0.878 | deleterious | D | 0.626492296 | None | None | N |
| Y/P | 0.9951 | likely_pathogenic | 0.9946 | pathogenic | -1.143 | Destabilizing | 0.953 | D | 0.891 | deleterious | None | None | None | None | N |
| Y/Q | 0.9937 | likely_pathogenic | 0.993 | pathogenic | -2.191 | Highly Destabilizing | 0.953 | D | 0.795 | deleterious | None | None | None | None | N |
| Y/R | 0.9847 | likely_pathogenic | 0.9829 | pathogenic | -2.194 | Highly Destabilizing | 0.87 | D | 0.88 | deleterious | None | None | None | None | N |
| Y/S | 0.9717 | likely_pathogenic | 0.9698 | pathogenic | -2.903 | Highly Destabilizing | 0.834 | D | 0.851 | deleterious | D | 0.642511657 | None | None | N |
| Y/T | 0.9875 | likely_pathogenic | 0.9869 | pathogenic | -2.504 | Highly Destabilizing | 0.87 | D | 0.837 | deleterious | None | None | None | None | N |
| Y/V | 0.7925 | likely_pathogenic | 0.7862 | pathogenic | -1.143 | Destabilizing | 0.32 | N | 0.769 | deleterious | None | None | None | None | N |
| Y/W | 0.7392 | likely_pathogenic | 0.741 | pathogenic | -0.268 | Destabilizing | 0.87 | D | 0.709 | prob.delet. | 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.