Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23702 | 71329;71330;71331 | chr2:178575028;178575027;178575026 | chr2:179439755;179439754;179439753 |
| N2AB | 22061 | 66406;66407;66408 | chr2:178575028;178575027;178575026 | chr2:179439755;179439754;179439753 |
| N2A | 21134 | 63625;63626;63627 | chr2:178575028;178575027;178575026 | chr2:179439755;179439754;179439753 |
| N2B | 14637 | 44134;44135;44136 | chr2:178575028;178575027;178575026 | chr2:179439755;179439754;179439753 |
| Novex-1 | 14762 | 44509;44510;44511 | chr2:178575028;178575027;178575026 | chr2:179439755;179439754;179439753 |
| Novex-2 | 14829 | 44710;44711;44712 | chr2:178575028;178575027;178575026 | chr2:179439755;179439754;179439753 |
| 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 | 0.858 | 0.834 | 0.836067393018 | gnomAD-4.0.0 | 1.5921E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85935E-06 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.857 | 0.834 | 0.87794732457 | gnomAD-4.0.0 | 6.84362E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99578E-07 | 0 | 0 |
| G/V | rs1709554662  |
None | 1.0 | D | 0.838 | 0.823 | 0.934549259549 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/V | rs1709554662 |
None | 1.0 | D | 0.838 | 0.823 | 0.934549259549 | gnomAD-4.0.0 | 6.58163E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47102E-05 | 0 | 0 |
| G/W | rs750853901 |
-1.099 | 1.0 | D | 0.799 | 0.852 | None | gnomAD-2.1.1 | 4.29E-05 | None | None | None | None | I | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.81E-05 | 0 |
| G/W | rs750853901 |
-1.099 | 1.0 | D | 0.799 | 0.852 | None | gnomAD-3.1.2 | 7.89E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.32376E-04 | 0 | 0 |
| G/W | rs750853901 |
-1.099 | 1.0 | D | 0.799 | 0.852 | None | gnomAD-4.0.0 | 1.12198E-04 | None | None | None | None | I | None | 4.0063E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.41571E-04 | 0 | 1.76197E-04 |
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 | 0.4219 | ambiguous | 0.4371 | ambiguous | -0.512 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.577952037 | None | None | I |
| G/C | 0.5841 | likely_pathogenic | 0.568 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/D | 0.8152 | likely_pathogenic | 0.8256 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/E | 0.8045 | likely_pathogenic | 0.8058 | pathogenic | -0.753 | Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.63835413 | None | None | I |
| G/F | 0.8953 | likely_pathogenic | 0.8909 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/H | 0.9196 | likely_pathogenic | 0.9203 | pathogenic | -1.127 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| G/I | 0.8666 | likely_pathogenic | 0.848 | pathogenic | -0.105 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/K | 0.9272 | likely_pathogenic | 0.9248 | pathogenic | -1.003 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/L | 0.8298 | likely_pathogenic | 0.8421 | pathogenic | -0.105 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/M | 0.8827 | likely_pathogenic | 0.8797 | pathogenic | -0.16 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/N | 0.8264 | likely_pathogenic | 0.8348 | pathogenic | -0.725 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/P | 0.9923 | likely_pathogenic | 0.9921 | pathogenic | -0.198 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/Q | 0.8122 | likely_pathogenic | 0.8137 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/R | 0.8766 | likely_pathogenic | 0.8679 | pathogenic | -0.764 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.638152326 | None | None | I |
| G/S | 0.3437 | ambiguous | 0.339 | benign | -1.025 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/T | 0.7184 | likely_pathogenic | 0.7078 | pathogenic | -0.973 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/V | 0.8017 | likely_pathogenic | 0.7791 | pathogenic | -0.198 | Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.63835413 | None | None | I |
| G/W | 0.9307 | likely_pathogenic | 0.9218 | pathogenic | -1.238 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.638555934 | None | None | I |
| G/Y | 0.9117 | likely_pathogenic | 0.9078 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.824 | 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.