Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3345 | 10258;10259;10260 | chr2:178764258;178764257;178764256 | chr2:179628985;179628984;179628983 |
| N2AB | 3345 | 10258;10259;10260 | chr2:178764258;178764257;178764256 | chr2:179628985;179628984;179628983 |
| N2A | 3345 | 10258;10259;10260 | chr2:178764258;178764257;178764256 | chr2:179628985;179628984;179628983 |
| N2B | 3299 | 10120;10121;10122 | chr2:178764258;178764257;178764256 | chr2:179628985;179628984;179628983 |
| Novex-1 | 3299 | 10120;10121;10122 | chr2:178764258;178764257;178764256 | chr2:179628985;179628984;179628983 |
| Novex-2 | 3299 | 10120;10121;10122 | chr2:178764258;178764257;178764256 | chr2:179628985;179628984;179628983 |
| Novex-3 | 3345 | 10258;10259;10260 | chr2:178764258;178764257;178764256 | chr2:179628985;179628984;179628983 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | D | 0.905 | 0.83 | 0.913529028722 | gnomAD-4.0.0 | 6.84103E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52207E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | None | None | 1.0 | D | 0.91 | 0.854 | 0.853786399945 | gnomAD-4.0.0 | 6.84103E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99319E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.4937 | ambiguous | 0.5584 | ambiguous | -1.453 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.742855389 | None | None | N |
| P/C | 0.9758 | likely_pathogenic | 0.9805 | pathogenic | -1.11 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/D | 0.9974 | likely_pathogenic | 0.9978 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| P/E | 0.9898 | likely_pathogenic | 0.9918 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| P/F | 0.9959 | likely_pathogenic | 0.9974 | pathogenic | -1.196 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/G | 0.9717 | likely_pathogenic | 0.979 | pathogenic | -1.755 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| P/H | 0.9889 | likely_pathogenic | 0.9919 | pathogenic | -1.264 | Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.774040782 | None | None | N |
| P/I | 0.9294 | likely_pathogenic | 0.9619 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/K | 0.9936 | likely_pathogenic | 0.9951 | pathogenic | -1.078 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| P/L | 0.7644 | likely_pathogenic | 0.8486 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.775159774 | None | None | N |
| P/M | 0.9662 | likely_pathogenic | 0.9801 | pathogenic | -0.637 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/N | 0.9951 | likely_pathogenic | 0.9965 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| P/Q | 0.978 | likely_pathogenic | 0.9844 | pathogenic | -1.052 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| P/R | 0.9806 | likely_pathogenic | 0.9852 | pathogenic | -0.605 | Destabilizing | 1.0 | D | 0.91 | deleterious | D | 0.774506666 | None | None | N |
| P/S | 0.9022 | likely_pathogenic | 0.9319 | pathogenic | -1.438 | Destabilizing | 1.0 | D | 0.908 | deleterious | D | 0.741067621 | None | None | N |
| P/T | 0.8443 | likely_pathogenic | 0.9002 | pathogenic | -1.337 | Destabilizing | 1.0 | D | 0.908 | deleterious | D | 0.741166352 | None | None | N |
| P/V | 0.8128 | likely_pathogenic | 0.8817 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| P/W | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -1.325 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/Y | 0.9975 | likely_pathogenic | 0.9982 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.907 | 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.