Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7112 | 21559;21560;21561 | chr2:178723925;178723924;178723923 | chr2:179588652;179588651;179588650 |
| N2AB | 6795 | 20608;20609;20610 | chr2:178723925;178723924;178723923 | chr2:179588652;179588651;179588650 |
| N2A | 5868 | 17827;17828;17829 | chr2:178723925;178723924;178723923 | chr2:179588652;179588651;179588650 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/C | None | None | 1.0 | D | 0.814 | 0.653 | 0.885028913985 | gnomAD-4.0.0 | 1.59198E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85982E-06 | 0 | 0 |
| G/V | rs781305504  |
0.015 | 1.0 | D | 0.85 | 0.642 | 0.920368719062 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/V | rs781305504 |
0.015 | 1.0 | D | 0.85 | 0.642 | 0.920368719062 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/V | rs781305504 |
0.015 | 1.0 | D | 0.85 | 0.642 | 0.920368719062 | gnomAD-4.0.0 | 6.57246E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47029E-05 | 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 | 0.3744 | ambiguous | 0.3893 | ambiguous | -0.817 | Destabilizing | 0.999 | D | 0.801 | deleterious | D | 0.584916976 | None | None | N |
| G/C | 0.722 | likely_pathogenic | 0.7381 | pathogenic | -0.662 | Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.668999864 | None | None | N |
| G/D | 0.5625 | ambiguous | 0.6012 | pathogenic | -1.725 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.620306008 | None | None | N |
| G/E | 0.6702 | likely_pathogenic | 0.6809 | pathogenic | -1.722 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/F | 0.9488 | likely_pathogenic | 0.9505 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| G/H | 0.8964 | likely_pathogenic | 0.903 | pathogenic | -1.734 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| G/I | 0.9016 | likely_pathogenic | 0.9016 | pathogenic | -0.214 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/K | 0.8695 | likely_pathogenic | 0.8692 | pathogenic | -1.325 | Destabilizing | 0.991 | D | 0.736 | prob.delet. | None | None | None | None | N |
| G/L | 0.888 | likely_pathogenic | 0.8928 | pathogenic | -0.214 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/M | 0.9165 | likely_pathogenic | 0.9206 | pathogenic | 0.009 | Stabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| G/N | 0.7346 | likely_pathogenic | 0.7659 | pathogenic | -1.043 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/P | 0.9912 | likely_pathogenic | 0.9897 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| G/Q | 0.7918 | likely_pathogenic | 0.8024 | pathogenic | -1.146 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/R | 0.7685 | likely_pathogenic | 0.7742 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.66879806 | None | None | N |
| G/S | 0.3092 | likely_benign | 0.3427 | ambiguous | -1.264 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.64285634 | None | None | N |
| G/T | 0.7303 | likely_pathogenic | 0.7309 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| G/V | 0.7897 | likely_pathogenic | 0.7915 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.668999864 | None | None | N |
| G/W | 0.8893 | likely_pathogenic | 0.8912 | pathogenic | -1.617 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| G/Y | 0.9076 | likely_pathogenic | 0.9129 | pathogenic | -1.147 | Destabilizing | 1.0 | D | 0.851 | 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.