Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27054 | 81385;81386;81387 | chr2:178564972;178564971;178564970 | chr2:179429699;179429698;179429697 |
| N2AB | 25413 | 76462;76463;76464 | chr2:178564972;178564971;178564970 | chr2:179429699;179429698;179429697 |
| N2A | 24486 | 73681;73682;73683 | chr2:178564972;178564971;178564970 | chr2:179429699;179429698;179429697 |
| N2B | 17989 | 54190;54191;54192 | chr2:178564972;178564971;178564970 | chr2:179429699;179429698;179429697 |
| Novex-1 | 18114 | 54565;54566;54567 | chr2:178564972;178564971;178564970 | chr2:179429699;179429698;179429697 |
| Novex-2 | 18181 | 54766;54767;54768 | chr2:178564972;178564971;178564970 | chr2:179429699;179429698;179429697 |
| 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 | 0.908 | 0.64 | 0.695568829229 | gnomAD-4.0.0 | 1.59697E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44263E-05 | 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 | 0.9383 | likely_pathogenic | 0.9209 | pathogenic | -0.709 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.56492975 | None | None | I |
| G/C | 0.9693 | likely_pathogenic | 0.9662 | pathogenic | -0.972 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
| G/D | 0.9916 | likely_pathogenic | 0.9914 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | I |
| G/E | 0.9934 | likely_pathogenic | 0.9936 | pathogenic | -1.264 | Destabilizing | 1.0 | D | 0.908 | deleterious | D | 0.565436729 | None | None | I |
| G/F | 0.9959 | likely_pathogenic | 0.9955 | pathogenic | -1.208 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | I |
| G/H | 0.9937 | likely_pathogenic | 0.9938 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | I |
| G/I | 0.9966 | likely_pathogenic | 0.9953 | pathogenic | -0.618 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | I |
| G/K | 0.9941 | likely_pathogenic | 0.9945 | pathogenic | -1.254 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | I |
| G/L | 0.9934 | likely_pathogenic | 0.9917 | pathogenic | -0.618 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/M | 0.9972 | likely_pathogenic | 0.9963 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | I |
| G/N | 0.9897 | likely_pathogenic | 0.9886 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
| G/P | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | I |
| G/Q | 0.9854 | likely_pathogenic | 0.9857 | pathogenic | -1.167 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | I |
| G/R | 0.9768 | likely_pathogenic | 0.9785 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.919 | deleterious | D | 0.565436729 | None | None | I |
| G/S | 0.8648 | likely_pathogenic | 0.8486 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/T | 0.9856 | likely_pathogenic | 0.9817 | pathogenic | -1.11 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/V | 0.993 | likely_pathogenic | 0.9908 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.553408861 | None | None | I |
| G/W | 0.9914 | likely_pathogenic | 0.9922 | pathogenic | -1.395 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/Y | 0.9941 | likely_pathogenic | 0.9937 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.888 | 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.