Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9619 | 29080;29081;29082 | chr2:178707712;178707711;178707710 | chr2:179572439;179572438;179572437 |
| N2AB | 9302 | 28129;28130;28131 | chr2:178707712;178707711;178707710 | chr2:179572439;179572438;179572437 |
| N2A | 8375 | 25348;25349;25350 | chr2:178707712;178707711;178707710 | chr2:179572439;179572438;179572437 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/F | rs1446542554  |
None | 0.549 | None | 0.538 | 0.313 | 0.432604763906 | gnomAD-4.0.0 | 6.84168E-07 | None | None | None | None | I | None | 0 | 2.23634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs530257812 |
-1.979 | 0.549 | None | 0.493 | 0.34 | 0.687710541463 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs530257812 |
-1.979 | 0.549 | None | 0.493 | 0.34 | 0.687710541463 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.92604E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs530257812 |
-1.979 | 0.549 | None | 0.493 | 0.34 | 0.687710541463 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| I/T | rs530257812 |
-1.979 | 0.549 | None | 0.493 | 0.34 | 0.687710541463 | gnomAD-4.0.0 | 6.56564E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.9305E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | None | None | 0.099 | None | 0.344 | 0.116 | 0.44711355012 | gnomAD-4.0.0 | 3.42084E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.5977E-06 | 0 | 1.65645E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8324 | likely_pathogenic | 0.7427 | pathogenic | -2.136 | Highly Destabilizing | 0.25 | N | 0.448 | neutral | None | None | None | None | I |
| I/C | 0.9524 | likely_pathogenic | 0.9156 | pathogenic | -1.441 | Destabilizing | 0.992 | D | 0.571 | neutral | None | None | None | None | I |
| I/D | 0.9929 | likely_pathogenic | 0.9857 | pathogenic | -1.544 | Destabilizing | 0.972 | D | 0.642 | neutral | None | None | None | None | I |
| I/E | 0.9742 | likely_pathogenic | 0.9575 | pathogenic | -1.414 | Destabilizing | 0.92 | D | 0.633 | neutral | None | None | None | None | I |
| I/F | 0.5912 | likely_pathogenic | 0.414 | ambiguous | -1.333 | Destabilizing | 0.549 | D | 0.538 | neutral | None | None | None | None | I |
| I/G | 0.9713 | likely_pathogenic | 0.9421 | pathogenic | -2.598 | Highly Destabilizing | 0.92 | D | 0.632 | neutral | None | None | None | None | I |
| I/H | 0.974 | likely_pathogenic | 0.9388 | pathogenic | -1.886 | Destabilizing | 0.992 | D | 0.606 | neutral | None | None | None | None | I |
| I/K | 0.9292 | likely_pathogenic | 0.8735 | pathogenic | -1.399 | Destabilizing | 0.85 | D | 0.636 | neutral | None | None | None | None | I |
| I/L | 0.2134 | likely_benign | 0.1549 | benign | -0.864 | Destabilizing | 0.001 | N | 0.101 | neutral | None | None | None | None | I |
| I/M | 0.244 | likely_benign | 0.1824 | benign | -0.793 | Destabilizing | 0.036 | N | 0.325 | neutral | None | None | None | None | I |
| I/N | 0.8975 | likely_pathogenic | 0.841 | pathogenic | -1.422 | Destabilizing | 0.896 | D | 0.651 | neutral | None | None | None | None | I |
| I/P | 0.9275 | likely_pathogenic | 0.8809 | pathogenic | -1.262 | Destabilizing | 0.972 | D | 0.65 | neutral | None | None | None | None | I |
| I/Q | 0.9412 | likely_pathogenic | 0.8933 | pathogenic | -1.421 | Destabilizing | 0.92 | D | 0.649 | neutral | None | None | None | None | I |
| I/R | 0.9007 | likely_pathogenic | 0.8235 | pathogenic | -1.032 | Destabilizing | 0.85 | D | 0.638 | neutral | None | None | None | None | I |
| I/S | 0.87 | likely_pathogenic | 0.7984 | pathogenic | -2.202 | Highly Destabilizing | 0.549 | D | 0.545 | neutral | None | None | None | None | I |
| I/T | 0.81 | likely_pathogenic | 0.7412 | pathogenic | -1.931 | Destabilizing | 0.549 | D | 0.493 | neutral | None | None | None | None | I |
| I/V | 0.0991 | likely_benign | 0.0883 | benign | -1.262 | Destabilizing | 0.099 | N | 0.344 | neutral | None | None | None | None | I |
| I/W | 0.9841 | likely_pathogenic | 0.9634 | pathogenic | -1.524 | Destabilizing | 0.992 | D | 0.613 | neutral | None | None | None | None | I |
| I/Y | 0.925 | likely_pathogenic | 0.8645 | pathogenic | -1.255 | Destabilizing | 0.92 | D | 0.585 | neutral | 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.