Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15749 | 47470;47471;47472 | chr2:178618213;178618212;178618211 | chr2:179482940;179482939;179482938 |
| N2AB | 14108 | 42547;42548;42549 | chr2:178618213;178618212;178618211 | chr2:179482940;179482939;179482938 |
| N2A | 13181 | 39766;39767;39768 | chr2:178618213;178618212;178618211 | chr2:179482940;179482939;179482938 |
| N2B | 6684 | 20275;20276;20277 | chr2:178618213;178618212;178618211 | chr2:179482940;179482939;179482938 |
| Novex-1 | 6809 | 20650;20651;20652 | chr2:178618213;178618212;178618211 | chr2:179482940;179482939;179482938 |
| Novex-2 | 6876 | 20851;20852;20853 | chr2:178618213;178618212;178618211 | chr2:179482940;179482939;179482938 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | rs761505199  |
-1.434 | 1.0 | D | 0.813 | 0.403 | 0.608945918356 | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.03008E-04 | None | 0 | None | 0 | 0 | 0 |
| P/H | rs761505199 |
-1.434 | 1.0 | D | 0.813 | 0.403 | 0.608945918356 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94856E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | None | None | 0.995 | D | 0.765 | 0.471 | 0.695812936145 | gnomAD-4.0.0 | 6.8463E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.1605E-05 | 0 |
| P/S | None | None | 0.966 | D | 0.729 | 0.219 | 0.367992661779 | gnomAD-4.0.0 | 1.59352E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02939E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0809 | likely_benign | 0.0672 | benign | -0.914 | Destabilizing | 0.429 | N | 0.353 | neutral | N | 0.503264268 | None | None | N |
| P/C | 0.7314 | likely_pathogenic | 0.498 | ambiguous | -0.732 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/D | 0.9 | likely_pathogenic | 0.8108 | pathogenic | -0.535 | Destabilizing | 0.998 | D | 0.801 | deleterious | None | None | None | None | N |
| P/E | 0.7361 | likely_pathogenic | 0.5843 | pathogenic | -0.593 | Destabilizing | 0.998 | D | 0.774 | deleterious | None | None | None | None | N |
| P/F | 0.8182 | likely_pathogenic | 0.6769 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/G | 0.5589 | ambiguous | 0.4061 | ambiguous | -1.149 | Destabilizing | 0.974 | D | 0.717 | prob.delet. | None | None | None | None | N |
| P/H | 0.5694 | likely_pathogenic | 0.3936 | ambiguous | -0.641 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.714773621 | None | None | N |
| P/I | 0.6107 | likely_pathogenic | 0.4308 | ambiguous | -0.411 | Destabilizing | 0.998 | D | 0.858 | deleterious | None | None | None | None | N |
| P/K | 0.6971 | likely_pathogenic | 0.4624 | ambiguous | -0.778 | Destabilizing | 0.996 | D | 0.782 | deleterious | None | None | None | None | N |
| P/L | 0.4137 | ambiguous | 0.2723 | benign | -0.411 | Destabilizing | 0.995 | D | 0.765 | deleterious | D | 0.62487946 | None | None | N |
| P/M | 0.6725 | likely_pathogenic | 0.4749 | ambiguous | -0.396 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/N | 0.81 | likely_pathogenic | 0.6604 | pathogenic | -0.519 | Destabilizing | 0.999 | D | 0.865 | deleterious | None | None | None | None | N |
| P/Q | 0.54 | ambiguous | 0.3525 | ambiguous | -0.716 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | None | None | N |
| P/R | 0.5052 | ambiguous | 0.3124 | benign | -0.254 | Destabilizing | 0.998 | D | 0.861 | deleterious | D | 0.635606197 | None | None | N |
| P/S | 0.2891 | likely_benign | 0.2182 | benign | -0.983 | Destabilizing | 0.966 | D | 0.729 | deleterious | D | 0.533116325 | None | None | N |
| P/T | 0.2596 | likely_benign | 0.1824 | benign | -0.929 | Destabilizing | 0.995 | D | 0.785 | deleterious | D | 0.574517668 | None | None | N |
| P/V | 0.3978 | ambiguous | 0.2582 | benign | -0.542 | Destabilizing | 0.996 | D | 0.761 | deleterious | None | None | None | None | N |
| P/W | 0.9228 | likely_pathogenic | 0.8217 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/Y | 0.7998 | likely_pathogenic | 0.655 | pathogenic | -0.643 | Destabilizing | 1.0 | D | 0.857 | 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.