Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17687 | 53284;53285;53286 | chr2:178607629;178607628;178607627 | chr2:179472356;179472355;179472354 |
| N2AB | 16046 | 48361;48362;48363 | chr2:178607629;178607628;178607627 | chr2:179472356;179472355;179472354 |
| N2A | 15119 | 45580;45581;45582 | chr2:178607629;178607628;178607627 | chr2:179472356;179472355;179472354 |
| N2B | 8622 | 26089;26090;26091 | chr2:178607629;178607628;178607627 | chr2:179472356;179472355;179472354 |
| Novex-1 | 8747 | 26464;26465;26466 | chr2:178607629;178607628;178607627 | chr2:179472356;179472355;179472354 |
| Novex-2 | 8814 | 26665;26666;26667 | chr2:178607629;178607628;178607627 | chr2:179472356;179472355;179472354 |
| 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 | rs780672348  |
-0.811 | 1.0 | D | 0.869 | 0.667 | 0.891711145127 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 9.99E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs780672348 |
-0.811 | 1.0 | D | 0.869 | 0.667 | 0.891711145127 | gnomAD-4.0.0 | 6.84476E-07 | None | None | None | None | I | None | 0 | 0 | None | 3.82907E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs780672348 |
-0.355 | 1.0 | D | 0.855 | 0.737 | None | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.72E-05 | 0 |
| G/V | rs780672348 |
-0.355 | 1.0 | D | 0.855 | 0.737 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.83E-05 | 0 | 0 |
| G/V | rs780672348 |
-0.355 | 1.0 | D | 0.855 | 0.737 | None | gnomAD-4.0.0 | 3.53396E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.83301E-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 | 0.81 | likely_pathogenic | 0.8314 | pathogenic | -0.359 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.599216514 | None | None | I |
| G/C | 0.8224 | likely_pathogenic | 0.8734 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/D | 0.8159 | likely_pathogenic | 0.858 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/E | 0.873 | likely_pathogenic | 0.9104 | pathogenic | -0.768 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.591071109 | None | None | I |
| G/F | 0.9873 | likely_pathogenic | 0.9905 | pathogenic | -1.077 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/H | 0.9055 | likely_pathogenic | 0.9205 | pathogenic | -0.591 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/I | 0.9925 | likely_pathogenic | 0.9957 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/K | 0.8782 | likely_pathogenic | 0.9028 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | I |
| G/L | 0.9727 | likely_pathogenic | 0.9778 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/M | 0.9807 | likely_pathogenic | 0.985 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/N | 0.7882 | likely_pathogenic | 0.8004 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| G/P | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/Q | 0.8306 | likely_pathogenic | 0.8561 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/R | 0.7827 | likely_pathogenic | 0.8265 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.634475181 | None | None | I |
| G/S | 0.5378 | ambiguous | 0.5581 | ambiguous | -0.67 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/T | 0.9108 | likely_pathogenic | 0.9253 | pathogenic | -0.762 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | I |
| G/V | 0.9777 | likely_pathogenic | 0.9862 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.650696346 | None | None | I |
| G/W | 0.9609 | likely_pathogenic | 0.9766 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.65089815 | None | None | I |
| G/Y | 0.9723 | likely_pathogenic | 0.9807 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.862 | 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.