Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28201 | 84826;84827;84828 | chr2:178561531;178561530;178561529 | chr2:179426258;179426257;179426256 |
| N2AB | 26560 | 79903;79904;79905 | chr2:178561531;178561530;178561529 | chr2:179426258;179426257;179426256 |
| N2A | 25633 | 77122;77123;77124 | chr2:178561531;178561530;178561529 | chr2:179426258;179426257;179426256 |
| N2B | 19136 | 57631;57632;57633 | chr2:178561531;178561530;178561529 | chr2:179426258;179426257;179426256 |
| Novex-1 | 19261 | 58006;58007;58008 | chr2:178561531;178561530;178561529 | chr2:179426258;179426257;179426256 |
| Novex-2 | 19328 | 58207;58208;58209 | chr2:178561531;178561530;178561529 | chr2:179426258;179426257;179426256 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | None | None | 1.0 | D | 0.778 | 0.527 | 0.732398184264 | gnomAD-4.0.0 | 1.59245E-06 | None | None | None | None | N | None | 5.66316E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9955 | likely_pathogenic | 0.9952 | pathogenic | -2.913 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| W/C | 0.9974 | likely_pathogenic | 0.9971 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | D | 0.542936431 | None | None | N |
| W/D | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -1.219 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| W/E | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.147 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| W/F | 0.7295 | likely_pathogenic | 0.7271 | pathogenic | -1.812 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| W/G | 0.9845 | likely_pathogenic | 0.9832 | pathogenic | -3.102 | Highly Destabilizing | 1.0 | D | 0.695 | prob.neutral | D | 0.530819657 | None | None | N |
| W/H | 0.9921 | likely_pathogenic | 0.9923 | pathogenic | -1.344 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| W/I | 0.9941 | likely_pathogenic | 0.9938 | pathogenic | -2.239 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| W/K | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.368 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| W/L | 0.9752 | likely_pathogenic | 0.9747 | pathogenic | -2.239 | Highly Destabilizing | 1.0 | D | 0.695 | prob.neutral | D | 0.52879174 | None | None | N |
| W/M | 0.9963 | likely_pathogenic | 0.9961 | pathogenic | -1.681 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/N | 0.9985 | likely_pathogenic | 0.9984 | pathogenic | -1.623 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| W/P | 0.9956 | likely_pathogenic | 0.9962 | pathogenic | -2.478 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| W/Q | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -1.657 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| W/R | 0.9985 | likely_pathogenic | 0.9984 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.778 | deleterious | D | 0.541922473 | None | None | N |
| W/S | 0.9912 | likely_pathogenic | 0.9909 | pathogenic | -2.152 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.530059188 | None | None | N |
| W/T | 0.9965 | likely_pathogenic | 0.9963 | pathogenic | -2.041 | Highly Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| W/V | 0.993 | likely_pathogenic | 0.9925 | pathogenic | -2.478 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| W/Y | 0.9047 | likely_pathogenic | 0.8929 | pathogenic | -1.58 | Destabilizing | 1.0 | D | 0.657 | 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.