Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9326 | 28201;28202;28203 | chr2:178711260;178711259;178711258 | chr2:179575987;179575986;179575985 |
| N2AB | 9009 | 27250;27251;27252 | chr2:178711260;178711259;178711258 | chr2:179575987;179575986;179575985 |
| N2A | 8082 | 24469;24470;24471 | chr2:178711260;178711259;178711258 | chr2:179575987;179575986;179575985 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | None | 0.759 | 0.727 | 0.831791226727 | gnomAD-4.0.0 | 6.84197E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15953E-05 | 0 |
| G/V | rs374592087  |
0.054 | 1.0 | None | 0.727 | 0.76 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| G/V | rs374592087 |
0.054 | 1.0 | None | 0.727 | 0.76 | None | gnomAD-4.0.0 | 6.84197E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99473E-07 | 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 | 0.5511 | ambiguous | 0.7055 | pathogenic | -0.14 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| G/C | 0.9217 | likely_pathogenic | 0.9617 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | I |
| G/D | 0.9764 | likely_pathogenic | 0.9868 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/E | 0.9856 | likely_pathogenic | 0.9919 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| G/F | 0.9866 | likely_pathogenic | 0.993 | pathogenic | -0.902 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | I |
| G/H | 0.9906 | likely_pathogenic | 0.9955 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| G/I | 0.9662 | likely_pathogenic | 0.9834 | pathogenic | -0.288 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | I |
| G/K | 0.9929 | likely_pathogenic | 0.9962 | pathogenic | -0.651 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| G/L | 0.9748 | likely_pathogenic | 0.9875 | pathogenic | -0.288 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| G/M | 0.9894 | likely_pathogenic | 0.9943 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| G/N | 0.9735 | likely_pathogenic | 0.9852 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/P | 0.9912 | likely_pathogenic | 0.9952 | pathogenic | -0.207 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| G/Q | 0.9851 | likely_pathogenic | 0.9917 | pathogenic | -0.541 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/R | 0.975 | likely_pathogenic | 0.9853 | pathogenic | -0.291 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| G/S | 0.5526 | ambiguous | 0.6814 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/T | 0.8892 | likely_pathogenic | 0.9385 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| G/V | 0.9292 | likely_pathogenic | 0.9628 | pathogenic | -0.207 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| G/W | 0.9838 | likely_pathogenic | 0.9916 | pathogenic | -1.076 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9869 | likely_pathogenic | 0.9935 | pathogenic | -0.704 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | 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.