Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32284 | 97075;97076;97077 | chr2:178543123;178543122;178543121 | chr2:179407850;179407849;179407848 |
| N2AB | 30643 | 92152;92153;92154 | chr2:178543123;178543122;178543121 | chr2:179407850;179407849;179407848 |
| N2A | 29716 | 89371;89372;89373 | chr2:178543123;178543122;178543121 | chr2:179407850;179407849;179407848 |
| N2B | 23219 | 69880;69881;69882 | chr2:178543123;178543122;178543121 | chr2:179407850;179407849;179407848 |
| Novex-1 | 23344 | 70255;70256;70257 | chr2:178543123;178543122;178543121 | chr2:179407850;179407849;179407848 |
| Novex-2 | 23411 | 70456;70457;70458 | chr2:178543123;178543122;178543121 | chr2:179407850;179407849;179407848 |
| 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/D | rs988372305  |
-1.087 | 1.0 | D | 0.921 | 0.71 | 0.56731557318 | gnomAD-2.1.1 | 3.21E-05 | None | None | None | None | I | None | 1.1526E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs988372305 |
-1.087 | 1.0 | D | 0.921 | 0.71 | 0.56731557318 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | I | None | 2.43E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs988372305 |
-1.087 | 1.0 | D | 0.921 | 0.71 | 0.56731557318 | gnomAD-4.0.0 | 6.59483E-06 | None | None | None | None | I | None | 2.42518E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.919 | 0.766 | 0.848261960561 | gnomAD-4.0.0 | 1.44039E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.575E-05 | 0 | 0 |
| G/S | None | None | 1.0 | D | 0.867 | 0.744 | 0.510872562601 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| G/V | rs988372305 |
-0.412 | 1.0 | D | 0.885 | 0.711 | 0.891295348475 | gnomAD-2.1.1 | 3.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.54E-05 | 0 |
| G/V | rs988372305 |
-0.412 | 1.0 | D | 0.885 | 0.711 | 0.891295348475 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/V | rs988372305 |
-0.412 | 1.0 | D | 0.885 | 0.711 | 0.891295348475 | gnomAD-4.0.0 | 2.48374E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54759E-06 | 0 | 1.60421E-05 |
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 | 0.7193 | likely_pathogenic | 0.7082 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.76 | deleterious | D | 0.543452269 | None | None | I |
| G/C | 0.9193 | likely_pathogenic | 0.9219 | pathogenic | -1.022 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.562823972 | None | None | I |
| G/D | 0.8991 | likely_pathogenic | 0.9029 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.534551499 | None | None | I |
| G/E | 0.9376 | likely_pathogenic | 0.9395 | pathogenic | -1.319 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| G/F | 0.9834 | likely_pathogenic | 0.9821 | pathogenic | -1.23 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | I |
| G/H | 0.9798 | likely_pathogenic | 0.9806 | pathogenic | -0.989 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/I | 0.9711 | likely_pathogenic | 0.9736 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | I |
| G/K | 0.9769 | likely_pathogenic | 0.9803 | pathogenic | -1.266 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/L | 0.9725 | likely_pathogenic | 0.9733 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/M | 0.9752 | likely_pathogenic | 0.9746 | pathogenic | -0.539 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/N | 0.9364 | likely_pathogenic | 0.9391 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
| G/P | 0.9978 | likely_pathogenic | 0.998 | pathogenic | -0.644 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | I |
| G/Q | 0.9615 | likely_pathogenic | 0.9637 | pathogenic | -1.227 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | I |
| G/R | 0.9548 | likely_pathogenic | 0.9613 | pathogenic | -0.736 | Destabilizing | 1.0 | D | 0.919 | deleterious | D | 0.561810014 | None | None | I |
| G/S | 0.6962 | likely_pathogenic | 0.6927 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.534551499 | None | None | I |
| G/T | 0.8914 | likely_pathogenic | 0.8975 | pathogenic | -1.144 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | I |
| G/V | 0.9404 | likely_pathogenic | 0.9447 | pathogenic | -0.644 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.525854993 | None | None | I |
| G/W | 0.9656 | likely_pathogenic | 0.9668 | pathogenic | -1.398 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/Y | 0.9602 | likely_pathogenic | 0.9621 | pathogenic | -1.08 | Destabilizing | 1.0 | D | 0.889 | 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.