Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27858 | 83797;83798;83799 | chr2:178562560;178562559;178562558 | chr2:179427287;179427286;179427285 |
| N2AB | 26217 | 78874;78875;78876 | chr2:178562560;178562559;178562558 | chr2:179427287;179427286;179427285 |
| N2A | 25290 | 76093;76094;76095 | chr2:178562560;178562559;178562558 | chr2:179427287;179427286;179427285 |
| N2B | 18793 | 56602;56603;56604 | chr2:178562560;178562559;178562558 | chr2:179427287;179427286;179427285 |
| Novex-1 | 18918 | 56977;56978;56979 | chr2:178562560;178562559;178562558 | chr2:179427287;179427286;179427285 |
| Novex-2 | 18985 | 57178;57179;57180 | chr2:178562560;178562559;178562558 | chr2:179427287;179427286;179427285 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1704088827  |
None | 0.411 | N | 0.519 | 0.287 | 0.470566500458 | gnomAD-4.0.0 | 1.59849E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86722E-06 | 0 | 0 |
| V/I | rs778221988 |
-0.252 | 0.002 | N | 0.191 | 0.03 | None | gnomAD-2.1.1 | 5.41E-05 | None | None | None | None | N | None | 1.6581E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.65E-05 | 0 |
| V/I | rs778221988 |
-0.252 | 0.002 | N | 0.191 | 0.03 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/I | rs778221988 |
-0.252 | 0.002 | N | 0.191 | 0.03 | None | gnomAD-4.0.0 | 1.56472E-04 | None | None | None | None | N | None | 1.07035E-04 | 1.67808E-05 | None | 0 | 0 | None | 0 | 0 | 2.02787E-04 | 0 | 6.4156E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3196 | likely_benign | 0.2969 | benign | -1.687 | Destabilizing | 0.411 | N | 0.519 | neutral | N | 0.51081239 | None | None | N |
| V/C | 0.666 | likely_pathogenic | 0.6477 | pathogenic | -1.04 | Destabilizing | 0.987 | D | 0.803 | deleterious | None | None | None | None | N |
| V/D | 0.8673 | likely_pathogenic | 0.8484 | pathogenic | -2.147 | Highly Destabilizing | 0.924 | D | 0.843 | deleterious | D | 0.523600727 | None | None | N |
| V/E | 0.6633 | likely_pathogenic | 0.6544 | pathogenic | -1.91 | Destabilizing | 0.889 | D | 0.835 | deleterious | None | None | None | None | N |
| V/F | 0.2536 | likely_benign | 0.2335 | benign | -1.024 | Destabilizing | 0.92 | D | 0.799 | deleterious | N | 0.511572858 | None | None | N |
| V/G | 0.4955 | ambiguous | 0.483 | ambiguous | -2.207 | Highly Destabilizing | 0.943 | D | 0.836 | deleterious | D | 0.523600727 | None | None | N |
| V/H | 0.7859 | likely_pathogenic | 0.7631 | pathogenic | -1.875 | Destabilizing | 0.99 | D | 0.847 | deleterious | None | None | None | None | N |
| V/I | 0.0695 | likely_benign | 0.0658 | benign | -0.237 | Destabilizing | 0.002 | N | 0.191 | neutral | N | 0.468279268 | None | None | N |
| V/K | 0.6621 | likely_pathogenic | 0.6544 | pathogenic | -1.34 | Destabilizing | 0.851 | D | 0.84 | deleterious | None | None | None | None | N |
| V/L | 0.1777 | likely_benign | 0.1638 | benign | -0.237 | Destabilizing | 0.019 | N | 0.477 | neutral | N | 0.485364301 | None | None | N |
| V/M | 0.149 | likely_benign | 0.1438 | benign | -0.223 | Destabilizing | 0.811 | D | 0.673 | prob.neutral | None | None | None | None | N |
| V/N | 0.6561 | likely_pathogenic | 0.601 | pathogenic | -1.744 | Destabilizing | 0.721 | D | 0.837 | deleterious | None | None | None | None | N |
| V/P | 0.9475 | likely_pathogenic | 0.9414 | pathogenic | -0.694 | Destabilizing | 0.721 | D | 0.844 | deleterious | None | None | None | None | N |
| V/Q | 0.5557 | ambiguous | 0.5522 | ambiguous | -1.541 | Destabilizing | 0.925 | D | 0.835 | deleterious | None | None | None | None | N |
| V/R | 0.6163 | likely_pathogenic | 0.6052 | pathogenic | -1.306 | Destabilizing | 0.924 | D | 0.835 | deleterious | None | None | None | None | N |
| V/S | 0.4748 | ambiguous | 0.4346 | ambiguous | -2.334 | Highly Destabilizing | 0.868 | D | 0.807 | deleterious | None | None | None | None | N |
| V/T | 0.2922 | likely_benign | 0.2638 | benign | -1.941 | Destabilizing | 0.272 | N | 0.673 | prob.neutral | None | None | None | None | N |
| V/W | 0.8783 | likely_pathogenic | 0.8726 | pathogenic | -1.498 | Destabilizing | 0.997 | D | 0.817 | deleterious | None | None | None | None | N |
| V/Y | 0.6617 | likely_pathogenic | 0.6442 | pathogenic | -1.046 | Destabilizing | 0.924 | D | 0.797 | 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.