Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17130 | 51613;51614;51615 | chr2:178610138;178610137;178610136 | chr2:179474865;179474864;179474863 |
| N2AB | 15489 | 46690;46691;46692 | chr2:178610138;178610137;178610136 | chr2:179474865;179474864;179474863 |
| N2A | 14562 | 43909;43910;43911 | chr2:178610138;178610137;178610136 | chr2:179474865;179474864;179474863 |
| N2B | 8065 | 24418;24419;24420 | chr2:178610138;178610137;178610136 | chr2:179474865;179474864;179474863 |
| Novex-1 | 8190 | 24793;24794;24795 | chr2:178610138;178610137;178610136 | chr2:179474865;179474864;179474863 |
| Novex-2 | 8257 | 24994;24995;24996 | chr2:178610138;178610137;178610136 | chr2:179474865;179474864;179474863 |
| 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 | 0.905 | 0.768 | 0.658024896457 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.911 | 0.761 | 0.780977608258 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | 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 | 0.6555 | likely_pathogenic | 0.7076 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | D | 0.536460376 | None | None | N |
| G/C | 0.9034 | likely_pathogenic | 0.9228 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/D | 0.9743 | likely_pathogenic | 0.978 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| G/E | 0.9849 | likely_pathogenic | 0.9885 | pathogenic | -1.161 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.536206886 | None | None | N |
| G/F | 0.994 | likely_pathogenic | 0.9955 | pathogenic | -1.032 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/H | 0.9916 | likely_pathogenic | 0.9929 | pathogenic | -1.324 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/I | 0.9877 | likely_pathogenic | 0.9912 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/K | 0.9951 | likely_pathogenic | 0.9964 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| G/L | 0.9845 | likely_pathogenic | 0.9883 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/M | 0.9878 | likely_pathogenic | 0.9906 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/N | 0.9625 | likely_pathogenic | 0.9708 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/P | 0.9967 | likely_pathogenic | 0.9975 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| G/Q | 0.9846 | likely_pathogenic | 0.9892 | pathogenic | -0.991 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| G/R | 0.9865 | likely_pathogenic | 0.9905 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.554057652 | None | None | N |
| G/S | 0.48 | ambiguous | 0.4334 | ambiguous | -1.096 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/T | 0.8839 | likely_pathogenic | 0.8856 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| G/V | 0.9704 | likely_pathogenic | 0.9792 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.55507161 | None | None | N |
| G/W | 0.9895 | likely_pathogenic | 0.9915 | pathogenic | -1.366 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/Y | 0.9936 | likely_pathogenic | 0.9952 | pathogenic | -0.96 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
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.