Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30541 | 91846;91847;91848 | chr2:178550217;178550216;178550215 | chr2:179414944;179414943;179414942 |
| N2AB | 28900 | 86923;86924;86925 | chr2:178550217;178550216;178550215 | chr2:179414944;179414943;179414942 |
| N2A | 27973 | 84142;84143;84144 | chr2:178550217;178550216;178550215 | chr2:179414944;179414943;179414942 |
| N2B | 21476 | 64651;64652;64653 | chr2:178550217;178550216;178550215 | chr2:179414944;179414943;179414942 |
| Novex-1 | 21601 | 65026;65027;65028 | chr2:178550217;178550216;178550215 | chr2:179414944;179414943;179414942 |
| Novex-2 | 21668 | 65227;65228;65229 | chr2:178550217;178550216;178550215 | chr2:179414944;179414943;179414942 |
| 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 | None | None | 1.0 | D | 0.869 | 0.682 | 0.766529015816 | gnomAD-4.0.0 | 2.05288E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69868E-06 | 0 | 0 |
| G/R | rs200854704  |
-0.19 | 1.0 | D | 0.873 | 0.693 | 0.837526494843 | gnomAD-2.1.1 | 7.86E-05 | None | None | None | None | I | None | 1.24049E-04 | 2.83E-05 | None | 0 | 1.02533E-04 | None | 6.54E-05 | None | 0 | 1.01752E-04 | 1.40528E-04 |
| G/R | rs200854704 |
-0.19 | 1.0 | D | 0.873 | 0.693 | 0.837526494843 | gnomAD-3.1.2 | 1.05208E-04 | None | None | None | None | I | None | 2.42E-05 | 1.96721E-04 | 0 | 0 | 1.92827E-04 | None | 0 | 0 | 1.47011E-04 | 2.07469E-04 | 0 |
| G/R | rs200854704 |
-0.19 | 1.0 | D | 0.873 | 0.693 | 0.837526494843 | gnomAD-4.0.0 | 1.36976E-04 | None | None | None | None | I | None | 4.0078E-05 | 1.00053E-04 | None | 0 | 8.91424E-05 | None | 0 | 0 | 1.68692E-04 | 5.49137E-05 | 6.40471E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4263 | ambiguous | 0.4536 | ambiguous | -0.288 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.624754626 | None | None | I |
| G/C | 0.5457 | ambiguous | 0.5736 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/D | 0.5238 | ambiguous | 0.6088 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/E | 0.5437 | ambiguous | 0.6103 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.5536926 | None | None | I |
| G/F | 0.9081 | likely_pathogenic | 0.9199 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| G/H | 0.6448 | likely_pathogenic | 0.6486 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/I | 0.9129 | likely_pathogenic | 0.9211 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/K | 0.5779 | likely_pathogenic | 0.5912 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/L | 0.8131 | likely_pathogenic | 0.8299 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/M | 0.8337 | likely_pathogenic | 0.8435 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/N | 0.4529 | ambiguous | 0.487 | ambiguous | -0.306 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/P | 0.981 | likely_pathogenic | 0.9852 | pathogenic | -0.376 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/Q | 0.4948 | ambiguous | 0.5134 | ambiguous | -0.608 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/R | 0.4434 | ambiguous | 0.4606 | ambiguous | -0.208 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.608937069 | None | None | I |
| G/S | 0.2099 | likely_benign | 0.2366 | benign | -0.47 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/T | 0.5157 | ambiguous | 0.5465 | ambiguous | -0.567 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/V | 0.8301 | likely_pathogenic | 0.8517 | pathogenic | -0.376 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.625158234 | None | None | I |
| G/W | 0.7935 | likely_pathogenic | 0.8137 | pathogenic | -1.205 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/Y | 0.8404 | likely_pathogenic | 0.8552 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.842 | 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.