Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14001 | 42226;42227;42228 | chr2:178635188;178635187;178635186 | chr2:179499915;179499914;179499913 |
| N2AB | 12360 | 37303;37304;37305 | chr2:178635188;178635187;178635186 | chr2:179499915;179499914;179499913 |
| N2A | 11433 | 34522;34523;34524 | chr2:178635188;178635187;178635186 | chr2:179499915;179499914;179499913 |
| N2B | 4936 | 15031;15032;15033 | chr2:178635188;178635187;178635186 | chr2:179499915;179499914;179499913 |
| Novex-1 | 5061 | 15406;15407;15408 | chr2:178635188;178635187;178635186 | chr2:179499915;179499914;179499913 |
| Novex-2 | 5128 | 15607;15608;15609 | chr2:178635188;178635187;178635186 | chr2:179499915;179499914;179499913 |
| 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/A | None | None | 0.996 | D | 0.605 | 0.509 | 0.256283259241 | gnomAD-4.0.0 | 1.59325E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86121E-06 | 0 | 0 |
| G/R | rs866553786  |
-0.547 | 0.822 | D | 0.545 | 0.462 | 0.328222422547 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| G/R | rs866553786 |
-0.547 | 0.822 | D | 0.545 | 0.462 | 0.328222422547 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs866553786 |
-0.547 | 0.822 | D | 0.545 | 0.462 | 0.328222422547 | gnomAD-4.0.0 | 2.56512E-06 | None | None | None | None | I | None | 0 | 1.69866E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.34253E-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 | 0.8644 | likely_pathogenic | 0.6584 | pathogenic | -0.247 | Destabilizing | 0.996 | D | 0.605 | neutral | D | 0.531256348 | None | None | I |
| G/C | 0.9655 | likely_pathogenic | 0.8773 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
| G/D | 0.7481 | likely_pathogenic | 0.456 | ambiguous | -0.658 | Destabilizing | 1.0 | D | 0.671 | prob.neutral | None | None | None | None | I |
| G/E | 0.916 | likely_pathogenic | 0.7132 | pathogenic | -0.809 | Destabilizing | 0.999 | D | 0.732 | deleterious | D | 0.527429138 | None | None | I |
| G/F | 0.9956 | likely_pathogenic | 0.9828 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/H | 0.9835 | likely_pathogenic | 0.9249 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/I | 0.9925 | likely_pathogenic | 0.9665 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/K | 0.9882 | likely_pathogenic | 0.9471 | pathogenic | -0.901 | Destabilizing | 0.998 | D | 0.767 | deleterious | None | None | None | None | I |
| G/L | 0.9881 | likely_pathogenic | 0.9602 | pathogenic | -0.358 | Destabilizing | 0.999 | D | 0.751 | deleterious | None | None | None | None | I |
| G/M | 0.9868 | likely_pathogenic | 0.9523 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| G/N | 0.7764 | likely_pathogenic | 0.5068 | ambiguous | -0.53 | Destabilizing | 1.0 | D | 0.686 | prob.delet. | None | None | None | None | I |
| G/P | 0.999 | likely_pathogenic | 0.9954 | pathogenic | -0.288 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | I |
| G/Q | 0.9631 | likely_pathogenic | 0.8573 | pathogenic | -0.799 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | I |
| G/R | 0.9818 | likely_pathogenic | 0.9211 | pathogenic | -0.444 | Destabilizing | 0.822 | D | 0.545 | neutral | D | 0.571441457 | None | None | I |
| G/S | 0.6393 | likely_pathogenic | 0.3372 | benign | -0.665 | Destabilizing | 0.999 | D | 0.657 | prob.neutral | None | None | None | None | I |
| G/T | 0.9175 | likely_pathogenic | 0.7351 | pathogenic | -0.746 | Destabilizing | 1.0 | D | 0.729 | deleterious | None | None | None | None | I |
| G/V | 0.9815 | likely_pathogenic | 0.9237 | pathogenic | -0.288 | Destabilizing | 0.999 | D | 0.762 | deleterious | D | 0.57469419 | None | None | I |
| G/W | 0.9867 | likely_pathogenic | 0.9469 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.705 | prob.delet. | None | None | None | None | I |
| G/Y | 0.9833 | likely_pathogenic | 0.9377 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.788 | 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.