Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15194 | 45805;45806;45807 | chr2:178621138;178621137;178621136 | chr2:179485865;179485864;179485863 |
| N2AB | 13553 | 40882;40883;40884 | chr2:178621138;178621137;178621136 | chr2:179485865;179485864;179485863 |
| N2A | 12626 | 38101;38102;38103 | chr2:178621138;178621137;178621136 | chr2:179485865;179485864;179485863 |
| N2B | 6129 | 18610;18611;18612 | chr2:178621138;178621137;178621136 | chr2:179485865;179485864;179485863 |
| Novex-1 | 6254 | 18985;18986;18987 | chr2:178621138;178621137;178621136 | chr2:179485865;179485864;179485863 |
| Novex-2 | 6321 | 19186;19187;19188 | chr2:178621138;178621137;178621136 | chr2:179485865;179485864;179485863 |
| 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/R | rs747277540  |
-0.512 | 1.0 | D | 0.632 | 0.584 | 0.705405603352 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| G/R | rs747277540 |
-0.512 | 1.0 | D | 0.632 | 0.584 | 0.705405603352 | gnomAD-4.0.0 | 4.78126E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72315E-06 | 0 | 3.02883E-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 | 0.599 | likely_pathogenic | 0.6067 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.593 | neutral | D | 0.608828638 | None | None | N |
| G/C | 0.881 | likely_pathogenic | 0.8776 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.622 | neutral | None | None | None | None | N |
| G/D | 0.7183 | likely_pathogenic | 0.6936 | pathogenic | -0.952 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | N |
| G/E | 0.8372 | likely_pathogenic | 0.8406 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.652 | neutral | D | 0.582986475 | None | None | N |
| G/F | 0.9809 | likely_pathogenic | 0.9828 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.596 | neutral | None | None | None | None | N |
| G/H | 0.9472 | likely_pathogenic | 0.9528 | pathogenic | -0.796 | Destabilizing | 1.0 | D | 0.585 | neutral | None | None | None | None | N |
| G/I | 0.9741 | likely_pathogenic | 0.979 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.606 | neutral | None | None | None | None | N |
| G/K | 0.9524 | likely_pathogenic | 0.9567 | pathogenic | -1.123 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| G/L | 0.9598 | likely_pathogenic | 0.9635 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| G/M | 0.9753 | likely_pathogenic | 0.9769 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.607 | neutral | None | None | None | None | N |
| G/N | 0.8166 | likely_pathogenic | 0.8169 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| G/P | 0.9808 | likely_pathogenic | 0.9898 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| G/Q | 0.9177 | likely_pathogenic | 0.9243 | pathogenic | -0.989 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| G/R | 0.9112 | likely_pathogenic | 0.9243 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.632 | neutral | D | 0.644021529 | None | None | N |
| G/S | 0.4382 | ambiguous | 0.4484 | ambiguous | -0.81 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| G/T | 0.8665 | likely_pathogenic | 0.8934 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| G/V | 0.9367 | likely_pathogenic | 0.9483 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.653 | neutral | D | 0.667362688 | None | None | N |
| G/W | 0.9679 | likely_pathogenic | 0.9727 | pathogenic | -1.237 | Destabilizing | 1.0 | D | 0.605 | neutral | D | 0.741965194 | None | None | N |
| G/Y | 0.9677 | likely_pathogenic | 0.9704 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.592 | neutral | 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.