Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24586 | 73981;73982;73983 | chr2:178572376;178572375;178572374 | chr2:179437103;179437102;179437101 |
| N2AB | 22945 | 69058;69059;69060 | chr2:178572376;178572375;178572374 | chr2:179437103;179437102;179437101 |
| N2A | 22018 | 66277;66278;66279 | chr2:178572376;178572375;178572374 | chr2:179437103;179437102;179437101 |
| N2B | 15521 | 46786;46787;46788 | chr2:178572376;178572375;178572374 | chr2:179437103;179437102;179437101 |
| Novex-1 | 15646 | 47161;47162;47163 | chr2:178572376;178572375;178572374 | chr2:179437103;179437102;179437101 |
| Novex-2 | 15713 | 47362;47363;47364 | chr2:178572376;178572375;178572374 | chr2:179437103;179437102;179437101 |
| 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/C | None | None | 1.0 | D | 0.827 | 0.6 | 0.84128526366 | gnomAD-4.0.0 | 6.84538E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99845E-07 | 0 | 0 |
| G/S | None | None | 1.0 | N | 0.801 | 0.515 | 0.525258673147 | gnomAD-4.0.0 | 6.84538E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99845E-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 | 0.711 | likely_pathogenic | 0.6064 | pathogenic | -0.48 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | N | 0.497446573 | None | None | N |
| G/C | 0.8627 | likely_pathogenic | 0.7757 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.559876868 | None | None | N |
| G/D | 0.9167 | likely_pathogenic | 0.8537 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.495609695 | None | None | N |
| G/E | 0.9476 | likely_pathogenic | 0.9134 | pathogenic | -1.095 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/F | 0.9834 | likely_pathogenic | 0.9675 | pathogenic | -1.227 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/H | 0.9732 | likely_pathogenic | 0.9509 | pathogenic | -0.667 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| G/I | 0.9731 | likely_pathogenic | 0.9472 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/K | 0.9852 | likely_pathogenic | 0.9754 | pathogenic | -0.938 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/L | 0.9694 | likely_pathogenic | 0.9449 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/M | 0.9693 | likely_pathogenic | 0.9415 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/N | 0.78 | likely_pathogenic | 0.6696 | pathogenic | -0.574 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/P | 0.9973 | likely_pathogenic | 0.9956 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/Q | 0.9565 | likely_pathogenic | 0.9277 | pathogenic | -0.935 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/R | 0.9741 | likely_pathogenic | 0.9573 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.532111374 | None | None | N |
| G/S | 0.484 | ambiguous | 0.372 | ambiguous | -0.694 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.505155575 | None | None | N |
| G/T | 0.8286 | likely_pathogenic | 0.7276 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/V | 0.9444 | likely_pathogenic | 0.8983 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.536492694 | None | None | N |
| G/W | 0.9784 | likely_pathogenic | 0.9566 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/Y | 0.9694 | likely_pathogenic | 0.9394 | pathogenic | -1.01 | Destabilizing | 1.0 | D | 0.82 | 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.