Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19362 | 58309;58310;58311 | chr2:178594410;178594409;178594408 | chr2:179459137;179459136;179459135 |
| N2AB | 17721 | 53386;53387;53388 | chr2:178594410;178594409;178594408 | chr2:179459137;179459136;179459135 |
| N2A | 16794 | 50605;50606;50607 | chr2:178594410;178594409;178594408 | chr2:179459137;179459136;179459135 |
| N2B | 10297 | 31114;31115;31116 | chr2:178594410;178594409;178594408 | chr2:179459137;179459136;179459135 |
| Novex-1 | 10422 | 31489;31490;31491 | chr2:178594410;178594409;178594408 | chr2:179459137;179459136;179459135 |
| Novex-2 | 10489 | 31690;31691;31692 | chr2:178594410;178594409;178594408 | chr2:179459137;179459136;179459135 |
| 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/F | rs878854321  |
-1.43 | 0.942 | N | 0.757 | 0.347 | 0.718557029062 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | N | None | 0 | 2.95E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/F | rs878854321 |
-1.43 | 0.942 | N | 0.757 | 0.347 | 0.718557029062 | gnomAD-4.0.0 | 6.86932E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.02026E-07 | 0 | 0 |
| V/I | None | None | 0.014 | N | 0.373 | 0.138 | 0.465721554213 | gnomAD-4.0.0 | 1.37386E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.02026E-07 | 1.17459E-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 | 0.5364 | ambiguous | 0.3317 | benign | -2.055 | Highly Destabilizing | 0.489 | N | 0.571 | neutral | N | 0.482861037 | None | None | N |
| V/C | 0.773 | likely_pathogenic | 0.6246 | pathogenic | -1.914 | Destabilizing | 0.092 | N | 0.453 | neutral | None | None | None | None | N |
| V/D | 0.9412 | likely_pathogenic | 0.8414 | pathogenic | -2.819 | Highly Destabilizing | 0.99 | D | 0.849 | deleterious | N | 0.508259901 | None | None | N |
| V/E | 0.6629 | likely_pathogenic | 0.5134 | ambiguous | -2.679 | Highly Destabilizing | 0.993 | D | 0.774 | deleterious | None | None | None | None | N |
| V/F | 0.4427 | ambiguous | 0.2911 | benign | -1.323 | Destabilizing | 0.942 | D | 0.757 | deleterious | N | 0.476708972 | None | None | N |
| V/G | 0.7551 | likely_pathogenic | 0.5391 | ambiguous | -2.467 | Highly Destabilizing | 0.971 | D | 0.812 | deleterious | N | 0.519527301 | None | None | N |
| V/H | 0.8928 | likely_pathogenic | 0.796 | pathogenic | -1.967 | Destabilizing | 0.998 | D | 0.834 | deleterious | None | None | None | None | N |
| V/I | 0.0926 | likely_benign | 0.09 | benign | -0.938 | Destabilizing | 0.014 | N | 0.373 | neutral | N | 0.520564676 | None | None | N |
| V/K | 0.6729 | likely_pathogenic | 0.5225 | ambiguous | -1.576 | Destabilizing | 0.978 | D | 0.775 | deleterious | None | None | None | None | N |
| V/L | 0.4604 | ambiguous | 0.3651 | ambiguous | -0.938 | Destabilizing | 0.247 | N | 0.486 | neutral | N | 0.492847763 | None | None | N |
| V/M | 0.2586 | likely_benign | 0.1961 | benign | -1.203 | Destabilizing | 0.956 | D | 0.647 | neutral | None | None | None | None | N |
| V/N | 0.8024 | likely_pathogenic | 0.6281 | pathogenic | -1.81 | Destabilizing | 0.993 | D | 0.864 | deleterious | None | None | None | None | N |
| V/P | 0.9971 | likely_pathogenic | 0.993 | pathogenic | -1.284 | Destabilizing | 0.993 | D | 0.79 | deleterious | None | None | None | None | N |
| V/Q | 0.5892 | likely_pathogenic | 0.4582 | ambiguous | -1.825 | Destabilizing | 0.993 | D | 0.799 | deleterious | None | None | None | None | N |
| V/R | 0.6514 | likely_pathogenic | 0.4856 | ambiguous | -1.247 | Destabilizing | 0.993 | D | 0.859 | deleterious | None | None | None | None | N |
| V/S | 0.6483 | likely_pathogenic | 0.4371 | ambiguous | -2.343 | Highly Destabilizing | 0.956 | D | 0.733 | prob.delet. | None | None | None | None | N |
| V/T | 0.4098 | ambiguous | 0.2947 | benign | -2.088 | Highly Destabilizing | 0.86 | D | 0.609 | neutral | None | None | None | None | N |
| V/W | 0.9557 | likely_pathogenic | 0.9094 | pathogenic | -1.675 | Destabilizing | 0.998 | D | 0.795 | deleterious | None | None | None | None | N |
| V/Y | 0.8142 | likely_pathogenic | 0.6662 | pathogenic | -1.359 | Destabilizing | 0.978 | D | 0.767 | 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.