Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14144 | 42655;42656;42657 | chr2:178634069;178634068;178634067 | chr2:179498796;179498795;179498794 |
| N2AB | 12503 | 37732;37733;37734 | chr2:178634069;178634068;178634067 | chr2:179498796;179498795;179498794 |
| N2A | 11576 | 34951;34952;34953 | chr2:178634069;178634068;178634067 | chr2:179498796;179498795;179498794 |
| N2B | 5079 | 15460;15461;15462 | chr2:178634069;178634068;178634067 | chr2:179498796;179498795;179498794 |
| Novex-1 | 5204 | 15835;15836;15837 | chr2:178634069;178634068;178634067 | chr2:179498796;179498795;179498794 |
| Novex-2 | 5271 | 16036;16037;16038 | chr2:178634069;178634068;178634067 | chr2:179498796;179498795;179498794 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/I | rs1359996660  |
-1.49 | 1.0 | N | 0.753 | 0.617 | 0.556145022309 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/I | rs1359996660 |
-1.49 | 1.0 | N | 0.753 | 0.617 | 0.556145022309 | gnomAD-4.0.0 | 1.59352E-06 | None | None | None | None | N | None | 0 | 2.28791E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9881 | likely_pathogenic | 0.9824 | pathogenic | -2.473 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| F/C | 0.9518 | likely_pathogenic | 0.929 | pathogenic | -1.414 | Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.693689321 | None | None | N |
| F/D | 0.9965 | likely_pathogenic | 0.9958 | pathogenic | -1.492 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/E | 0.9957 | likely_pathogenic | 0.9946 | pathogenic | -1.358 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/G | 0.9938 | likely_pathogenic | 0.9917 | pathogenic | -2.86 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| F/H | 0.985 | likely_pathogenic | 0.9809 | pathogenic | -1.107 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| F/I | 0.5964 | likely_pathogenic | 0.5438 | ambiguous | -1.272 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.514720934 | None | None | N |
| F/K | 0.996 | likely_pathogenic | 0.9948 | pathogenic | -1.517 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/L | 0.9677 | likely_pathogenic | 0.9571 | pathogenic | -1.272 | Destabilizing | 0.999 | D | 0.619 | neutral | D | 0.595742934 | None | None | N |
| F/M | 0.8546 | likely_pathogenic | 0.8344 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| F/N | 0.9856 | likely_pathogenic | 0.9799 | pathogenic | -1.65 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| F/P | 0.9981 | likely_pathogenic | 0.9972 | pathogenic | -1.671 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| F/Q | 0.994 | likely_pathogenic | 0.9924 | pathogenic | -1.69 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| F/R | 0.9935 | likely_pathogenic | 0.9911 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| F/S | 0.9889 | likely_pathogenic | 0.9836 | pathogenic | -2.48 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.693232463 | None | None | N |
| F/T | 0.9854 | likely_pathogenic | 0.9781 | pathogenic | -2.249 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| F/V | 0.7364 | likely_pathogenic | 0.6648 | pathogenic | -1.671 | Destabilizing | 1.0 | D | 0.776 | deleterious | D | 0.525177569 | None | None | N |
| F/W | 0.8574 | likely_pathogenic | 0.8507 | pathogenic | -0.241 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| F/Y | 0.54 | ambiguous | 0.5108 | ambiguous | -0.541 | Destabilizing | 0.999 | D | 0.581 | neutral | D | 0.693318785 | 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.