Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19563 | 58912;58913;58914 | chr2:178593613;178593612;178593611 | chr2:179458340;179458339;179458338 |
| N2AB | 17922 | 53989;53990;53991 | chr2:178593613;178593612;178593611 | chr2:179458340;179458339;179458338 |
| N2A | 16995 | 51208;51209;51210 | chr2:178593613;178593612;178593611 | chr2:179458340;179458339;179458338 |
| N2B | 10498 | 31717;31718;31719 | chr2:178593613;178593612;178593611 | chr2:179458340;179458339;179458338 |
| Novex-1 | 10623 | 32092;32093;32094 | chr2:178593613;178593612;178593611 | chr2:179458340;179458339;179458338 |
| Novex-2 | 10690 | 32293;32294;32295 | chr2:178593613;178593612;178593611 | chr2:179458340;179458339;179458338 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs759628569  |
-1.549 | 0.999 | D | 0.679 | 0.499 | None | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.95E-06 | 0 |
| S/N | rs759628569 |
-1.549 | 0.999 | D | 0.679 | 0.499 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| S/N | rs759628569 |
-1.549 | 0.999 | D | 0.679 | 0.499 | None | gnomAD-4.0.0 | 1.79818E-05 | None | None | None | None | N | None | 0 | 1.66962E-05 | None | 0 | 0 | None | 0 | 0 | 2.20433E-05 | 1.09876E-05 | 1.60241E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.4986 | ambiguous | 0.511 | ambiguous | -0.646 | Destabilizing | 0.998 | D | 0.565 | neutral | None | None | None | None | N |
| S/C | 0.776 | likely_pathogenic | 0.7776 | pathogenic | -0.667 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | D | 0.537433156 | None | None | N |
| S/D | 0.9894 | likely_pathogenic | 0.99 | pathogenic | -1.675 | Destabilizing | 0.999 | D | 0.686 | prob.neutral | None | None | None | None | N |
| S/E | 0.997 | likely_pathogenic | 0.997 | pathogenic | -1.557 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| S/F | 0.9969 | likely_pathogenic | 0.9968 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| S/G | 0.1288 | likely_benign | 0.1319 | benign | -0.993 | Destabilizing | 0.999 | D | 0.63 | neutral | N | 0.475159594 | None | None | N |
| S/H | 0.9923 | likely_pathogenic | 0.9927 | pathogenic | -1.461 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| S/I | 0.9963 | likely_pathogenic | 0.996 | pathogenic | 0.207 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.525823361 | None | None | N |
| S/K | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.922 | Destabilizing | 0.999 | D | 0.688 | prob.neutral | None | None | None | None | N |
| S/L | 0.975 | likely_pathogenic | 0.9717 | pathogenic | 0.207 | Stabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| S/M | 0.9893 | likely_pathogenic | 0.9876 | pathogenic | 0.275 | Stabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| S/N | 0.9697 | likely_pathogenic | 0.9706 | pathogenic | -1.369 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | D | 0.536419198 | None | None | N |
| S/P | 0.9951 | likely_pathogenic | 0.9942 | pathogenic | -0.042 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| S/Q | 0.9959 | likely_pathogenic | 0.9957 | pathogenic | -1.259 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| S/R | 0.9982 | likely_pathogenic | 0.9981 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.74 | deleterious | N | 0.518733017 | None | None | N |
| S/T | 0.7758 | likely_pathogenic | 0.7676 | pathogenic | -1.043 | Destabilizing | 0.999 | D | 0.613 | neutral | D | 0.524048935 | None | None | N |
| S/V | 0.9931 | likely_pathogenic | 0.9928 | pathogenic | -0.042 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| S/W | 0.9963 | likely_pathogenic | 0.9961 | pathogenic | -0.667 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| S/Y | 0.994 | likely_pathogenic | 0.9941 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.744 | 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.