Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24548 | 73867;73868;73869 | chr2:178572490;178572489;178572488 | chr2:179437217;179437216;179437215 |
| N2AB | 22907 | 68944;68945;68946 | chr2:178572490;178572489;178572488 | chr2:179437217;179437216;179437215 |
| N2A | 21980 | 66163;66164;66165 | chr2:178572490;178572489;178572488 | chr2:179437217;179437216;179437215 |
| N2B | 15483 | 46672;46673;46674 | chr2:178572490;178572489;178572488 | chr2:179437217;179437216;179437215 |
| Novex-1 | 15608 | 47047;47048;47049 | chr2:178572490;178572489;178572488 | chr2:179437217;179437216;179437215 |
| Novex-2 | 15675 | 47248;47249;47250 | chr2:178572490;178572489;178572488 | chr2:179437217;179437216;179437215 |
| 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/S | None | None | 0.999 | N | 0.693 | 0.482 | 0.422404719673 | gnomAD-4.0.0 | 6.84548E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99771E-07 | 0 | 0 |
| G/V | rs551033308  |
-0.379 | 1.0 | D | 0.789 | 0.525 | 0.64129273419 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.93949E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs551033308 |
-0.379 | 1.0 | D | 0.789 | 0.525 | 0.64129273419 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| G/V | rs551033308 |
-0.379 | 1.0 | D | 0.789 | 0.525 | 0.64129273419 | gnomAD-4.0.0 | 2.56469E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.43368E-05 | None | 0 | 0 | 0 | 1.3412E-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 | 0.8891 | likely_pathogenic | 0.8307 | pathogenic | -0.201 | Destabilizing | 0.998 | D | 0.617 | neutral | N | 0.502696358 | None | None | I |
| G/C | 0.9071 | likely_pathogenic | 0.87 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.538059175 | None | None | I |
| G/D | 0.9895 | likely_pathogenic | 0.9828 | pathogenic | -0.16 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.520422219 | None | None | I |
| G/E | 0.9915 | likely_pathogenic | 0.9863 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/F | 0.9865 | likely_pathogenic | 0.9783 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/H | 0.9921 | likely_pathogenic | 0.9868 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | I |
| G/I | 0.9876 | likely_pathogenic | 0.9743 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/K | 0.9951 | likely_pathogenic | 0.992 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/L | 0.985 | likely_pathogenic | 0.9759 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/M | 0.9894 | likely_pathogenic | 0.9819 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/N | 0.9723 | likely_pathogenic | 0.9542 | pathogenic | -0.215 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | I |
| G/P | 0.9989 | likely_pathogenic | 0.9978 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/Q | 0.9868 | likely_pathogenic | 0.9805 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/R | 0.985 | likely_pathogenic | 0.9767 | pathogenic | -0.147 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.511623581 | None | None | I |
| G/S | 0.7775 | likely_pathogenic | 0.6868 | pathogenic | -0.419 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | N | 0.508835197 | None | None | I |
| G/T | 0.9696 | likely_pathogenic | 0.9451 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/V | 0.9793 | likely_pathogenic | 0.9621 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.541818157 | None | None | I |
| G/W | 0.9885 | likely_pathogenic | 0.9806 | pathogenic | -1.013 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/Y | 0.9851 | likely_pathogenic | 0.9761 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.771 | 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.