Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17751 | 53476;53477;53478 | chr2:178607437;178607436;178607435 | chr2:179472164;179472163;179472162 |
| N2AB | 16110 | 48553;48554;48555 | chr2:178607437;178607436;178607435 | chr2:179472164;179472163;179472162 |
| N2A | 15183 | 45772;45773;45774 | chr2:178607437;178607436;178607435 | chr2:179472164;179472163;179472162 |
| N2B | 8686 | 26281;26282;26283 | chr2:178607437;178607436;178607435 | chr2:179472164;179472163;179472162 |
| Novex-1 | 8811 | 26656;26657;26658 | chr2:178607437;178607436;178607435 | chr2:179472164;179472163;179472162 |
| Novex-2 | 8878 | 26857;26858;26859 | chr2:178607437;178607436;178607435 | chr2:179472164;179472163;179472162 |
| 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 | None | None | 1.0 | D | 0.877 | 0.613 | 0.576573652137 | gnomAD-4.0.0 | 1.36888E-06 | None | None | None | None | I | None | 0 | 0 | None | 3.82995E-05 | 0 | None | 0 | 0 | 8.9973E-07 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.901 | 0.668 | 0.857950588561 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.8501 | likely_pathogenic | 0.7997 | pathogenic | -0.124 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.5892281 | None | None | I |
| G/C | 0.9182 | likely_pathogenic | 0.9087 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.641515149 | None | None | I |
| G/D | 0.9447 | likely_pathogenic | 0.9412 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.594628608 | None | None | I |
| G/E | 0.9673 | likely_pathogenic | 0.9664 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/F | 0.9852 | likely_pathogenic | 0.9832 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | I |
| G/H | 0.9791 | likely_pathogenic | 0.9797 | pathogenic | -0.387 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/I | 0.9816 | likely_pathogenic | 0.9775 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/K | 0.9808 | likely_pathogenic | 0.982 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/L | 0.9819 | likely_pathogenic | 0.9784 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/M | 0.9893 | likely_pathogenic | 0.9872 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/N | 0.9513 | likely_pathogenic | 0.9574 | pathogenic | -0.171 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/P | 0.998 | likely_pathogenic | 0.9975 | pathogenic | -0.274 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | I |
| G/Q | 0.959 | likely_pathogenic | 0.9595 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | I |
| G/R | 0.9392 | likely_pathogenic | 0.9388 | pathogenic | -0.111 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.640506127 | None | None | I |
| G/S | 0.7185 | likely_pathogenic | 0.6751 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.586068876 | None | None | I |
| G/T | 0.9336 | likely_pathogenic | 0.9152 | pathogenic | -0.391 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/V | 0.9652 | likely_pathogenic | 0.958 | pathogenic | -0.274 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.64111154 | None | None | I |
| G/W | 0.9814 | likely_pathogenic | 0.9805 | pathogenic | -1.132 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/Y | 0.9806 | likely_pathogenic | 0.9802 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.873 | 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.