Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26814 | 80665;80666;80667 | chr2:178565692;178565691;178565690 | chr2:179430419;179430418;179430417 |
| N2AB | 25173 | 75742;75743;75744 | chr2:178565692;178565691;178565690 | chr2:179430419;179430418;179430417 |
| N2A | 24246 | 72961;72962;72963 | chr2:178565692;178565691;178565690 | chr2:179430419;179430418;179430417 |
| N2B | 17749 | 53470;53471;53472 | chr2:178565692;178565691;178565690 | chr2:179430419;179430418;179430417 |
| Novex-1 | 17874 | 53845;53846;53847 | chr2:178565692;178565691;178565690 | chr2:179430419;179430418;179430417 |
| Novex-2 | 17941 | 54046;54047;54048 | chr2:178565692;178565691;178565690 | chr2:179430419;179430418;179430417 |
| 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/A | None | None | 1.0 | N | 0.597 | 0.513 | 0.427940940899 | gnomAD-4.0.0 | 6.84272E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.657E-05 |
| G/E | None | None | 1.0 | N | 0.901 | 0.603 | 0.57631073843 | gnomAD-4.0.0 | 1.36854E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51953E-05 | None | 0 | 0 | 8.99562E-07 | 0 | 0 |
| G/V | rs1444150832  |
0.589 | 1.0 | D | 0.899 | 0.605 | 0.72592812663 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| G/V | rs1444150832 |
0.589 | 1.0 | D | 0.899 | 0.605 | 0.72592812663 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/V | rs1444150832 |
0.589 | 1.0 | D | 0.899 | 0.605 | 0.72592812663 | gnomAD-4.0.0 | 1.85935E-06 | None | None | None | None | N | None | 1.33568E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69542E-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 | 0.3134 | likely_benign | 0.3099 | benign | -0.302 | Destabilizing | 1.0 | D | 0.597 | neutral | N | 0.492518595 | None | None | N |
| G/C | 0.469 | ambiguous | 0.4901 | ambiguous | -0.3 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/D | 0.8795 | likely_pathogenic | 0.848 | pathogenic | -1.211 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/E | 0.8597 | likely_pathogenic | 0.8442 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.901 | deleterious | N | 0.479174053 | None | None | N |
| G/F | 0.9172 | likely_pathogenic | 0.9142 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/H | 0.8292 | likely_pathogenic | 0.8096 | pathogenic | -1.432 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| G/I | 0.9139 | likely_pathogenic | 0.915 | pathogenic | 0.625 | Stabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| G/K | 0.916 | likely_pathogenic | 0.9115 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| G/L | 0.9005 | likely_pathogenic | 0.8922 | pathogenic | 0.625 | Stabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| G/M | 0.9178 | likely_pathogenic | 0.9151 | pathogenic | 0.46 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/N | 0.8245 | likely_pathogenic | 0.7888 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| G/P | 0.998 | likely_pathogenic | 0.9979 | pathogenic | 0.361 | Stabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/Q | 0.8341 | likely_pathogenic | 0.822 | pathogenic | -0.591 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| G/R | 0.813 | likely_pathogenic | 0.81 | pathogenic | -0.836 | Destabilizing | 1.0 | D | 0.887 | deleterious | N | 0.490681716 | None | None | N |
| G/S | 0.2982 | likely_benign | 0.2791 | benign | -1.039 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| G/T | 0.6817 | likely_pathogenic | 0.6969 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| G/V | 0.8298 | likely_pathogenic | 0.8309 | pathogenic | 0.361 | Stabilizing | 1.0 | D | 0.899 | deleterious | D | 0.543059151 | None | None | N |
| G/W | 0.8418 | likely_pathogenic | 0.837 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.792 | deleterious | D | 0.544073109 | None | None | N |
| G/Y | 0.828 | likely_pathogenic | 0.8213 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.861 | 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.