Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28780 | 86563;86564;86565 | chr2:178559794;178559793;178559792 | chr2:179424521;179424520;179424519 |
| N2AB | 27139 | 81640;81641;81642 | chr2:178559794;178559793;178559792 | chr2:179424521;179424520;179424519 |
| N2A | 26212 | 78859;78860;78861 | chr2:178559794;178559793;178559792 | chr2:179424521;179424520;179424519 |
| N2B | 19715 | 59368;59369;59370 | chr2:178559794;178559793;178559792 | chr2:179424521;179424520;179424519 |
| Novex-1 | 19840 | 59743;59744;59745 | chr2:178559794;178559793;178559792 | chr2:179424521;179424520;179424519 |
| Novex-2 | 19907 | 59944;59945;59946 | chr2:178559794;178559793;178559792 | chr2:179424521;179424520;179424519 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | None | None | 1.0 | D | 0.794 | 0.646 | 0.752038915965 | gnomAD-4.0.0 | 6.87028E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16951E-05 | 0 |
| G/R | None | None | 1.0 | D | 0.791 | 0.66 | 0.841327593991 | gnomAD-4.0.0 | 2.061E-06 | None | None | None | None | I | None | 5.98874E-05 | 0 | None | 0 | 2.52118E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6065 | likely_pathogenic | 0.5828 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.563464952 | None | None | I |
| G/C | 0.9256 | likely_pathogenic | 0.9174 | pathogenic | -0.762 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | I |
| G/D | 0.995 | likely_pathogenic | 0.9942 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/E | 0.996 | likely_pathogenic | 0.9955 | pathogenic | -1.107 | Destabilizing | 1.0 | D | 0.794 | deleterious | D | 0.631096305 | None | None | I |
| G/F | 0.9958 | likely_pathogenic | 0.9954 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | I |
| G/H | 0.9983 | likely_pathogenic | 0.9979 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | I |
| G/I | 0.9918 | likely_pathogenic | 0.9912 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| G/K | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -1.162 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/L | 0.9905 | likely_pathogenic | 0.99 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| G/M | 0.9948 | likely_pathogenic | 0.9946 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| G/N | 0.9958 | likely_pathogenic | 0.9953 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/P | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/Q | 0.9964 | likely_pathogenic | 0.9961 | pathogenic | -0.979 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/R | 0.9949 | likely_pathogenic | 0.9942 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.634728782 | None | None | I |
| G/S | 0.8269 | likely_pathogenic | 0.7927 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/T | 0.9755 | likely_pathogenic | 0.972 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/V | 0.9756 | likely_pathogenic | 0.9735 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.634728782 | None | None | I |
| G/W | 0.9949 | likely_pathogenic | 0.9937 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9961 | likely_pathogenic | 0.9954 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
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.