Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16532 | 49819;49820;49821 | chr2:178613215;178613214;178613213 | chr2:179477942;179477941;179477940 |
| N2AB | 14891 | 44896;44897;44898 | chr2:178613215;178613214;178613213 | chr2:179477942;179477941;179477940 |
| N2A | 13964 | 42115;42116;42117 | chr2:178613215;178613214;178613213 | chr2:179477942;179477941;179477940 |
| N2B | 7467 | 22624;22625;22626 | chr2:178613215;178613214;178613213 | chr2:179477942;179477941;179477940 |
| Novex-1 | 7592 | 22999;23000;23001 | chr2:178613215;178613214;178613213 | chr2:179477942;179477941;179477940 |
| Novex-2 | 7659 | 23200;23201;23202 | chr2:178613215;178613214;178613213 | chr2:179477942;179477941;179477940 |
| 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/R | None | None | 1.0 | D | 0.909 | 0.781 | 0.824289625691 | 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 |
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 | 0.918 | likely_pathogenic | 0.9268 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.78114065 | None | None | I |
| G/C | 0.9751 | likely_pathogenic | 0.9678 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| G/D | 0.993 | likely_pathogenic | 0.9912 | pathogenic | -1.331 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| G/E | 0.9913 | likely_pathogenic | 0.9916 | pathogenic | -1.486 | Destabilizing | 1.0 | D | 0.902 | deleterious | D | 0.814091011 | None | None | I |
| G/F | 0.9926 | likely_pathogenic | 0.992 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | I |
| G/H | 0.9962 | likely_pathogenic | 0.9951 | pathogenic | -0.962 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/I | 0.9913 | likely_pathogenic | 0.9919 | pathogenic | -0.651 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | I |
| G/K | 0.9932 | likely_pathogenic | 0.991 | pathogenic | -1.256 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | I |
| G/L | 0.9879 | likely_pathogenic | 0.9866 | pathogenic | -0.651 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| G/M | 0.9947 | likely_pathogenic | 0.9946 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/N | 0.9919 | likely_pathogenic | 0.9903 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/P | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | I |
| G/Q | 0.9902 | likely_pathogenic | 0.99 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/R | 0.9869 | likely_pathogenic | 0.9851 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.815000904 | None | None | I |
| G/S | 0.9062 | likely_pathogenic | 0.9041 | pathogenic | -0.926 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| G/T | 0.9812 | likely_pathogenic | 0.9817 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | I |
| G/V | 0.9837 | likely_pathogenic | 0.9831 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.725602574 | None | None | I |
| G/W | 0.994 | likely_pathogenic | 0.9931 | pathogenic | -1.448 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/Y | 0.9939 | likely_pathogenic | 0.9933 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.887 | 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.