Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20334 | 61225;61226;61227 | chr2:178590725;178590724;178590723 | chr2:179455452;179455451;179455450 |
| N2AB | 18693 | 56302;56303;56304 | chr2:178590725;178590724;178590723 | chr2:179455452;179455451;179455450 |
| N2A | 17766 | 53521;53522;53523 | chr2:178590725;178590724;178590723 | chr2:179455452;179455451;179455450 |
| N2B | 11269 | 34030;34031;34032 | chr2:178590725;178590724;178590723 | chr2:179455452;179455451;179455450 |
| Novex-1 | 11394 | 34405;34406;34407 | chr2:178590725;178590724;178590723 | chr2:179455452;179455451;179455450 |
| Novex-2 | 11461 | 34606;34607;34608 | chr2:178590725;178590724;178590723 | chr2:179455452;179455451;179455450 |
| 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 | rs779468027  |
-0.429 | 1.0 | N | 0.751 | 0.549 | 0.609889067838 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/E | rs779468027 |
-0.429 | 1.0 | N | 0.751 | 0.549 | 0.609889067838 | gnomAD-4.0.0 | 1.59411E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86288E-06 | 0 | 0 |
| G/R | rs2050027400 |
None | 1.0 | N | 0.769 | 0.557 | 0.728201419959 | gnomAD-4.0.0 | 2.73905E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.6999E-06 | 1.16201E-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 | 0.2588 | likely_benign | 0.3835 | ambiguous | -0.386 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | N | 0.511169509 | None | None | N |
| G/C | 0.4161 | ambiguous | 0.5134 | ambiguous | -0.721 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/D | 0.5305 | ambiguous | 0.6342 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/E | 0.6649 | likely_pathogenic | 0.7368 | pathogenic | -0.383 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.475668561 | None | None | N |
| G/F | 0.8752 | likely_pathogenic | 0.9221 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/H | 0.6918 | likely_pathogenic | 0.7672 | pathogenic | -0.798 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/I | 0.7847 | likely_pathogenic | 0.8558 | pathogenic | -0.117 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| G/K | 0.8579 | likely_pathogenic | 0.8786 | pathogenic | -0.808 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| G/L | 0.78 | likely_pathogenic | 0.8667 | pathogenic | -0.117 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| G/M | 0.7635 | likely_pathogenic | 0.8581 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| G/N | 0.3733 | ambiguous | 0.5085 | ambiguous | -0.485 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/P | 0.9569 | likely_pathogenic | 0.9663 | pathogenic | -0.166 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| G/Q | 0.6818 | likely_pathogenic | 0.7484 | pathogenic | -0.612 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/R | 0.7658 | likely_pathogenic | 0.7684 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.769 | deleterious | N | 0.485418705 | None | None | N |
| G/S | 0.1458 | likely_benign | 0.2129 | benign | -0.772 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| G/T | 0.3648 | ambiguous | 0.5009 | ambiguous | -0.737 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/V | 0.635 | likely_pathogenic | 0.7459 | pathogenic | -0.166 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.5438593 | None | None | N |
| G/W | 0.7937 | likely_pathogenic | 0.8471 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| G/Y | 0.7774 | likely_pathogenic | 0.853 | pathogenic | -0.63 | Destabilizing | 1.0 | D | 0.743 | 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.