Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2196 | 6811;6812;6813 | chr2:178775125;178775124;178775123 | chr2:179639852;179639851;179639850 |
| N2AB | 2196 | 6811;6812;6813 | chr2:178775125;178775124;178775123 | chr2:179639852;179639851;179639850 |
| N2A | 2196 | 6811;6812;6813 | chr2:178775125;178775124;178775123 | chr2:179639852;179639851;179639850 |
| N2B | 2150 | 6673;6674;6675 | chr2:178775125;178775124;178775123 | chr2:179639852;179639851;179639850 |
| Novex-1 | 2150 | 6673;6674;6675 | chr2:178775125;178775124;178775123 | chr2:179639852;179639851;179639850 |
| Novex-2 | 2150 | 6673;6674;6675 | chr2:178775125;178775124;178775123 | chr2:179639852;179639851;179639850 |
| Novex-3 | 2196 | 6811;6812;6813 | chr2:178775125;178775124;178775123 | chr2:179639852;179639851;179639850 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | None | None | 1.0 | D | 0.945 | 0.653 | 0.624607077081 | gnomAD-4.0.0 | 1.20032E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| C/S | None | None | 1.0 | D | 0.837 | 0.604 | 0.443285836454 | gnomAD-4.0.0 | 1.20032E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| C/Y | rs878854326  |
-1.702 | 1.0 | D | 0.943 | 0.572 | 0.483670899158 | gnomAD-2.1.1 | 7.09E-06 | None | None | disulfide | None | N | None | 0 | 5.65E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/Y | rs878854326 |
-1.702 | 1.0 | D | 0.943 | 0.572 | 0.483670899158 | gnomAD-3.1.2 | 1.31E-05 | None | None | disulfide | None | N | None | 0 | 1.30976E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs878854326 |
-1.702 | 1.0 | D | 0.943 | 0.572 | 0.483670899158 | gnomAD-4.0.0 | 6.40379E-06 | None | None | disulfide | None | N | None | 0 | 6.77897E-05 | None | 0 | 0 | None | 0 | 0 | 2.39186E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.9515 | likely_pathogenic | 0.9522 | pathogenic | -1.411 | Destabilizing | 0.998 | D | 0.671 | neutral | None | None | disulfide | None | N |
| C/D | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.544 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.312 | Destabilizing | 1.0 | D | 0.942 | deleterious | None | None | disulfide | None | N |
| C/F | 0.9524 | likely_pathogenic | 0.9593 | pathogenic | -0.815 | Destabilizing | 1.0 | D | 0.927 | deleterious | N | 0.507244295 | disulfide | None | N |
| C/G | 0.9039 | likely_pathogenic | 0.9049 | pathogenic | -1.711 | Destabilizing | 1.0 | D | 0.912 | deleterious | D | 0.533691151 | disulfide | None | N |
| C/H | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.889 | Destabilizing | 1.0 | D | 0.938 | deleterious | None | None | disulfide | None | N |
| C/I | 0.9334 | likely_pathogenic | 0.9426 | pathogenic | -0.591 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | disulfide | None | N |
| C/L | 0.9347 | likely_pathogenic | 0.9392 | pathogenic | -0.591 | Destabilizing | 0.999 | D | 0.774 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9677 | likely_pathogenic | 0.9706 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | disulfide | None | N |
| C/N | 0.998 | likely_pathogenic | 0.998 | pathogenic | -1.609 | Destabilizing | 1.0 | D | 0.94 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.941 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.955 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9984 | likely_pathogenic | 0.9985 | pathogenic | -1.561 | Destabilizing | 1.0 | D | 0.945 | deleterious | D | 0.592359783 | disulfide | None | N |
| C/S | 0.982 | likely_pathogenic | 0.9824 | pathogenic | -1.857 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.534347799 | disulfide | None | N |
| C/T | 0.9753 | likely_pathogenic | 0.9759 | pathogenic | -1.481 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | disulfide | None | N |
| C/V | 0.8432 | likely_pathogenic | 0.8577 | pathogenic | -0.847 | Destabilizing | 0.999 | D | 0.807 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9966 | likely_pathogenic | 0.9971 | pathogenic | -1.304 | Destabilizing | 1.0 | D | 0.926 | deleterious | D | 0.592359783 | disulfide | None | N |
| C/Y | 0.9922 | likely_pathogenic | 0.9931 | pathogenic | -1.068 | Destabilizing | 1.0 | D | 0.943 | deleterious | D | 0.592359783 | disulfide | 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.