Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33156 | 99691;99692;99693 | chr2:178537741;178537740;178537739 | chr2:179402468;179402467;179402466 |
| N2AB | 31515 | 94768;94769;94770 | chr2:178537741;178537740;178537739 | chr2:179402468;179402467;179402466 |
| N2A | 30588 | 91987;91988;91989 | chr2:178537741;178537740;178537739 | chr2:179402468;179402467;179402466 |
| N2B | 24091 | 72496;72497;72498 | chr2:178537741;178537740;178537739 | chr2:179402468;179402467;179402466 |
| Novex-1 | 24216 | 72871;72872;72873 | chr2:178537741;178537740;178537739 | chr2:179402468;179402467;179402466 |
| Novex-2 | 24283 | 73072;73073;73074 | chr2:178537741;178537740;178537739 | chr2:179402468;179402467;179402466 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/N | rs374666520  |
None | 0.999 | N | 0.645 | 0.386 | 0.31077124679 | gnomAD-4.0.0 | 6.84226E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65678E-05 |
| H/R | rs1375140267 |
-1.705 | 1.0 | N | 0.755 | 0.486 | 0.31411915649 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/Y | rs374666520 |
0.322 | 1.0 | N | 0.659 | 0.344 | None | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.54E-05 | 1.65289E-04 |
| H/Y | rs374666520 |
0.322 | 1.0 | N | 0.659 | 0.344 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| H/Y | rs374666520 |
0.322 | 1.0 | N | 0.659 | 0.344 | None | gnomAD-4.0.0 | 4.0901E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25518E-05 | 0 | 6.40533E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.9004 | likely_pathogenic | 0.9052 | pathogenic | -1.296 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| H/C | 0.5201 | ambiguous | 0.5325 | ambiguous | -1.213 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| H/D | 0.9669 | likely_pathogenic | 0.9743 | pathogenic | -1.418 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.500268682 | None | None | N |
| H/E | 0.9717 | likely_pathogenic | 0.9745 | pathogenic | -1.305 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| H/F | 0.7897 | likely_pathogenic | 0.7447 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| H/G | 0.9689 | likely_pathogenic | 0.9715 | pathogenic | -1.636 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| H/I | 0.925 | likely_pathogenic | 0.9349 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| H/K | 0.9661 | likely_pathogenic | 0.9653 | pathogenic | -1.33 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| H/L | 0.7362 | likely_pathogenic | 0.7694 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.479949338 | None | None | N |
| H/M | 0.9251 | likely_pathogenic | 0.9285 | pathogenic | -0.632 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| H/N | 0.5683 | likely_pathogenic | 0.6151 | pathogenic | -1.545 | Destabilizing | 0.999 | D | 0.645 | neutral | N | 0.468310979 | None | None | N |
| H/P | 0.9895 | likely_pathogenic | 0.9927 | pathogenic | -0.644 | Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.465237994 | None | None | N |
| H/Q | 0.8391 | likely_pathogenic | 0.8503 | pathogenic | -1.285 | Destabilizing | 1.0 | D | 0.796 | deleterious | N | 0.488974253 | None | None | N |
| H/R | 0.8857 | likely_pathogenic | 0.8835 | pathogenic | -1.405 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.486299307 | None | None | N |
| H/S | 0.8134 | likely_pathogenic | 0.8224 | pathogenic | -1.704 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| H/T | 0.9147 | likely_pathogenic | 0.9317 | pathogenic | -1.487 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| H/V | 0.8728 | likely_pathogenic | 0.8865 | pathogenic | -0.644 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| H/W | 0.9016 | likely_pathogenic | 0.8715 | pathogenic | -0.087 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| H/Y | 0.4293 | ambiguous | 0.3476 | ambiguous | 0.101 | Stabilizing | 1.0 | D | 0.659 | neutral | N | 0.435582486 | 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.