Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32139 | 96640;96641;96642 | chr2:178543558;178543557;178543556 | chr2:179408285;179408284;179408283 |
| N2AB | 30498 | 91717;91718;91719 | chr2:178543558;178543557;178543556 | chr2:179408285;179408284;179408283 |
| N2A | 29571 | 88936;88937;88938 | chr2:178543558;178543557;178543556 | chr2:179408285;179408284;179408283 |
| N2B | 23074 | 69445;69446;69447 | chr2:178543558;178543557;178543556 | chr2:179408285;179408284;179408283 |
| Novex-1 | 23199 | 69820;69821;69822 | chr2:178543558;178543557;178543556 | chr2:179408285;179408284;179408283 |
| Novex-2 | 23266 | 70021;70022;70023 | chr2:178543558;178543557;178543556 | chr2:179408285;179408284;179408283 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs878960097  |
-1.008 | 0.999 | N | 0.547 | 0.378 | 0.240491677333 | gnomAD-2.1.1 | 8.11E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.92E-06 | 0 |
| N/S | rs878960097 |
-1.008 | 0.999 | N | 0.547 | 0.378 | 0.240491677333 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| N/S | rs878960097 |
-1.008 | 0.999 | N | 0.547 | 0.378 | 0.240491677333 | gnomAD-4.0.0 | 4.09582E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.00106E-05 | 1.0982E-05 | 9.61169E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.5869 | likely_pathogenic | 0.5897 | pathogenic | -0.858 | Destabilizing | 0.999 | D | 0.77 | deleterious | None | None | None | None | N |
| N/C | 0.3558 | ambiguous | 0.3347 | benign | -0.266 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| N/D | 0.6274 | likely_pathogenic | 0.609 | pathogenic | -1.44 | Destabilizing | 0.999 | D | 0.582 | neutral | D | 0.523271333 | None | None | N |
| N/E | 0.9164 | likely_pathogenic | 0.9147 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| N/F | 0.8646 | likely_pathogenic | 0.8334 | pathogenic | -0.784 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| N/G | 0.3833 | ambiguous | 0.4161 | ambiguous | -1.174 | Destabilizing | 1.0 | D | 0.547 | neutral | None | None | None | None | N |
| N/H | 0.1548 | likely_benign | 0.1416 | benign | -0.936 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | N | 0.487446606 | None | None | N |
| N/I | 0.876 | likely_pathogenic | 0.8563 | pathogenic | -0.062 | Destabilizing | 1.0 | D | 0.894 | deleterious | N | 0.492297423 | None | None | N |
| N/K | 0.8501 | likely_pathogenic | 0.8326 | pathogenic | -0.261 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.5092246 | None | None | N |
| N/L | 0.7582 | likely_pathogenic | 0.7468 | pathogenic | -0.062 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| N/M | 0.8294 | likely_pathogenic | 0.8242 | pathogenic | 0.476 | Stabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| N/P | 0.9935 | likely_pathogenic | 0.9932 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| N/Q | 0.7133 | likely_pathogenic | 0.7091 | pathogenic | -1.145 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| N/R | 0.7407 | likely_pathogenic | 0.7031 | pathogenic | -0.161 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| N/S | 0.1161 | likely_benign | 0.1173 | benign | -0.982 | Destabilizing | 0.999 | D | 0.547 | neutral | N | 0.463433596 | None | None | N |
| N/T | 0.4694 | ambiguous | 0.4762 | ambiguous | -0.703 | Destabilizing | 0.999 | D | 0.653 | neutral | N | 0.472925721 | None | None | N |
| N/V | 0.8332 | likely_pathogenic | 0.819 | pathogenic | -0.299 | Destabilizing | 0.999 | D | 0.878 | deleterious | None | None | None | None | N |
| N/W | 0.9589 | likely_pathogenic | 0.944 | pathogenic | -0.578 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| N/Y | 0.4425 | ambiguous | 0.403 | ambiguous | -0.294 | Destabilizing | 1.0 | D | 0.875 | deleterious | N | 0.512670337 | 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.