Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32762 | 98509;98510;98511 | chr2:178539781;178539780;178539779 | chr2:179404508;179404507;179404506 |
| N2AB | 31121 | 93586;93587;93588 | chr2:178539781;178539780;178539779 | chr2:179404508;179404507;179404506 |
| N2A | 30194 | 90805;90806;90807 | chr2:178539781;178539780;178539779 | chr2:179404508;179404507;179404506 |
| N2B | 23697 | 71314;71315;71316 | chr2:178539781;178539780;178539779 | chr2:179404508;179404507;179404506 |
| Novex-1 | 23822 | 71689;71690;71691 | chr2:178539781;178539780;178539779 | chr2:179404508;179404507;179404506 |
| Novex-2 | 23889 | 71890;71891;71892 | chr2:178539781;178539780;178539779 | chr2:179404508;179404507;179404506 |
| 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/M | rs794729550  |
None | 1.0 | D | 0.763 | 0.57 | 0.730747000282 | gnomAD-4.0.0 | 5.47355E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.5194E-05 | None | 0 | 0 | 0 | 0 | 1.15955E-04 |
| I/N | None | None | 1.0 | D | 0.879 | 0.773 | 0.933577829633 | gnomAD-4.0.0 | 1.59118E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8582E-06 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9647 | likely_pathogenic | 0.9685 | pathogenic | -2.695 | Highly Destabilizing | 0.999 | D | 0.7 | prob.neutral | None | None | None | None | N |
| I/C | 0.9532 | likely_pathogenic | 0.9589 | pathogenic | -1.945 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| I/D | 0.9961 | likely_pathogenic | 0.9964 | pathogenic | -3.236 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| I/E | 0.987 | likely_pathogenic | 0.9866 | pathogenic | -3.064 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| I/F | 0.5786 | likely_pathogenic | 0.6014 | pathogenic | -1.683 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.566684897 | None | None | N |
| I/G | 0.9932 | likely_pathogenic | 0.9937 | pathogenic | -3.186 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| I/H | 0.9829 | likely_pathogenic | 0.9843 | pathogenic | -2.642 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| I/K | 0.9756 | likely_pathogenic | 0.9702 | pathogenic | -2.348 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| I/L | 0.2889 | likely_benign | 0.3046 | benign | -1.291 | Destabilizing | 0.993 | D | 0.459 | neutral | D | 0.547638472 | None | None | N |
| I/M | 0.2813 | likely_benign | 0.3061 | benign | -1.106 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.575800039 | None | None | N |
| I/N | 0.9472 | likely_pathogenic | 0.9534 | pathogenic | -2.559 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.618770142 | None | None | N |
| I/P | 0.9977 | likely_pathogenic | 0.9979 | pathogenic | -1.74 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| I/Q | 0.9726 | likely_pathogenic | 0.972 | pathogenic | -2.516 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| I/R | 0.9634 | likely_pathogenic | 0.9576 | pathogenic | -1.846 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| I/S | 0.9593 | likely_pathogenic | 0.9631 | pathogenic | -3.162 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.618770142 | None | None | N |
| I/T | 0.9522 | likely_pathogenic | 0.9542 | pathogenic | -2.867 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.618366533 | None | None | N |
| I/V | 0.1882 | likely_benign | 0.1933 | benign | -1.74 | Destabilizing | 0.993 | D | 0.425 | neutral | D | 0.548270293 | None | None | N |
| I/W | 0.9735 | likely_pathogenic | 0.9783 | pathogenic | -2.109 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| I/Y | 0.9486 | likely_pathogenic | 0.9519 | pathogenic | -1.862 | Destabilizing | 1.0 | D | 0.812 | 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.