Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27795 | 83608;83609;83610 | chr2:178562749;178562748;178562747 | chr2:179427476;179427475;179427474 |
| N2AB | 26154 | 78685;78686;78687 | chr2:178562749;178562748;178562747 | chr2:179427476;179427475;179427474 |
| N2A | 25227 | 75904;75905;75906 | chr2:178562749;178562748;178562747 | chr2:179427476;179427475;179427474 |
| N2B | 18730 | 56413;56414;56415 | chr2:178562749;178562748;178562747 | chr2:179427476;179427475;179427474 |
| Novex-1 | 18855 | 56788;56789;56790 | chr2:178562749;178562748;178562747 | chr2:179427476;179427475;179427474 |
| Novex-2 | 18922 | 56989;56990;56991 | chr2:178562749;178562748;178562747 | chr2:179427476;179427475;179427474 |
| 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 | rs2154160926  |
None | 1.0 | D | 0.787 | 0.62 | 0.595273823551 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8616 | likely_pathogenic | 0.8687 | pathogenic | -0.266 | Destabilizing | 0.998 | D | 0.614 | neutral | N | 0.501873437 | None | None | I |
| G/C | 0.9277 | likely_pathogenic | 0.9304 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/D | 0.989 | likely_pathogenic | 0.991 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | I |
| G/E | 0.9895 | likely_pathogenic | 0.9914 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.531462583 | None | None | I |
| G/F | 0.987 | likely_pathogenic | 0.989 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/H | 0.9916 | likely_pathogenic | 0.9935 | pathogenic | -0.363 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/I | 0.9852 | likely_pathogenic | 0.9872 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/K | 0.9936 | likely_pathogenic | 0.9949 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/L | 0.9831 | likely_pathogenic | 0.9848 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/M | 0.9863 | likely_pathogenic | 0.9873 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/N | 0.9733 | likely_pathogenic | 0.977 | pathogenic | -0.324 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| G/P | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -0.354 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/Q | 0.9856 | likely_pathogenic | 0.9887 | pathogenic | -0.571 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/R | 0.9825 | likely_pathogenic | 0.986 | pathogenic | -0.225 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.513104839 | None | None | I |
| G/S | 0.7817 | likely_pathogenic | 0.7973 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| G/T | 0.9563 | likely_pathogenic | 0.9605 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/V | 0.9748 | likely_pathogenic | 0.9774 | pathogenic | -0.354 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.546097345 | None | None | I |
| G/W | 0.9888 | likely_pathogenic | 0.9903 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/Y | 0.9867 | likely_pathogenic | 0.9882 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.773 | 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.