Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20770 | 62533;62534;62535 | chr2:178589417;178589416;178589415 | chr2:179454144;179454143;179454142 |
| N2AB | 19129 | 57610;57611;57612 | chr2:178589417;178589416;178589415 | chr2:179454144;179454143;179454142 |
| N2A | 18202 | 54829;54830;54831 | chr2:178589417;178589416;178589415 | chr2:179454144;179454143;179454142 |
| N2B | 11705 | 35338;35339;35340 | chr2:178589417;178589416;178589415 | chr2:179454144;179454143;179454142 |
| Novex-1 | 11830 | 35713;35714;35715 | chr2:178589417;178589416;178589415 | chr2:179454144;179454143;179454142 |
| Novex-2 | 11897 | 35914;35915;35916 | chr2:178589417;178589416;178589415 | chr2:179454144;179454143;179454142 |
| 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/A | rs532360660  |
-1.04 | 0.994 | N | 0.421 | 0.231 | 0.484329738948 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/A | rs532360660 |
-1.04 | 0.994 | N | 0.421 | 0.231 | 0.484329738948 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| V/A | rs532360660 |
-1.04 | 0.994 | N | 0.421 | 0.231 | 0.484329738948 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| V/A | rs532360660 |
-1.04 | 0.994 | N | 0.421 | 0.231 | 0.484329738948 | gnomAD-4.0.0 | 6.57237E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 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 | 0.313 | likely_benign | 0.412 | ambiguous | -1.021 | Destabilizing | 0.994 | D | 0.421 | neutral | N | 0.468986636 | None | None | N |
| V/C | 0.8272 | likely_pathogenic | 0.9044 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.597 | neutral | None | None | None | None | N |
| V/D | 0.6973 | likely_pathogenic | 0.7884 | pathogenic | -0.628 | Destabilizing | 0.269 | N | 0.509 | neutral | None | None | None | None | N |
| V/E | 0.4821 | ambiguous | 0.589 | pathogenic | -0.602 | Destabilizing | 0.978 | D | 0.501 | neutral | N | 0.444821697 | None | None | N |
| V/F | 0.2837 | likely_benign | 0.3368 | benign | -0.62 | Destabilizing | 1.0 | D | 0.581 | neutral | None | None | None | None | N |
| V/G | 0.4585 | ambiguous | 0.5808 | pathogenic | -1.321 | Destabilizing | 0.998 | D | 0.625 | neutral | N | 0.507641025 | None | None | N |
| V/H | 0.7254 | likely_pathogenic | 0.824 | pathogenic | -0.624 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| V/I | 0.0881 | likely_benign | 0.0981 | benign | -0.302 | Destabilizing | 0.996 | D | 0.431 | neutral | N | 0.468119844 | None | None | N |
| V/K | 0.6085 | likely_pathogenic | 0.6803 | pathogenic | -0.842 | Destabilizing | 0.999 | D | 0.603 | neutral | None | None | None | None | N |
| V/L | 0.2659 | likely_benign | 0.3526 | ambiguous | -0.302 | Destabilizing | 0.996 | D | 0.429 | neutral | N | 0.476277968 | None | None | N |
| V/M | 0.1991 | likely_benign | 0.2742 | benign | -0.474 | Destabilizing | 1.0 | D | 0.558 | neutral | None | None | None | None | N |
| V/N | 0.4345 | ambiguous | 0.5718 | pathogenic | -0.771 | Destabilizing | 0.998 | D | 0.672 | neutral | None | None | None | None | N |
| V/P | 0.9719 | likely_pathogenic | 0.9771 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.593 | neutral | None | None | None | None | N |
| V/Q | 0.4362 | ambiguous | 0.5557 | ambiguous | -0.853 | Destabilizing | 0.999 | D | 0.609 | neutral | None | None | None | None | N |
| V/R | 0.6085 | likely_pathogenic | 0.6575 | pathogenic | -0.412 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | None | None | None | None | N |
| V/S | 0.3211 | likely_benign | 0.4447 | ambiguous | -1.29 | Destabilizing | 0.998 | D | 0.543 | neutral | None | None | None | None | N |
| V/T | 0.2702 | likely_benign | 0.3673 | ambiguous | -1.144 | Destabilizing | 0.996 | D | 0.465 | neutral | None | None | None | None | N |
| V/W | 0.9273 | likely_pathogenic | 0.9491 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| V/Y | 0.7217 | likely_pathogenic | 0.7866 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.589 | neutral | 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.