Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14825 | 44698;44699;44700 | chr2:178625348;178625347;178625346 | chr2:179490075;179490074;179490073 |
| N2AB | 13184 | 39775;39776;39777 | chr2:178625348;178625347;178625346 | chr2:179490075;179490074;179490073 |
| N2A | 12257 | 36994;36995;36996 | chr2:178625348;178625347;178625346 | chr2:179490075;179490074;179490073 |
| N2B | 5760 | 17503;17504;17505 | chr2:178625348;178625347;178625346 | chr2:179490075;179490074;179490073 |
| Novex-1 | 5885 | 17878;17879;17880 | chr2:178625348;178625347;178625346 | chr2:179490075;179490074;179490073 |
| Novex-2 | 5952 | 18079;18080;18081 | chr2:178625348;178625347;178625346 | chr2:179490075;179490074;179490073 |
| 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 | rs1213950767  |
-1.413 | 0.094 | N | 0.493 | 0.251 | 0.482574385019 | gnomAD-2.1.1 | 8.38E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.83E-05 | 0 |
| V/A | rs1213950767 |
-1.413 | 0.094 | N | 0.493 | 0.251 | 0.482574385019 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| V/A | rs1213950767 |
-1.413 | 0.094 | N | 0.493 | 0.251 | 0.482574385019 | gnomAD-4.0.0 | 8.114E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.02125E-05 | 0 | 1.61358E-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 | 0.6101 | likely_pathogenic | 0.6494 | pathogenic | -1.748 | Destabilizing | 0.094 | N | 0.493 | neutral | N | 0.501155875 | None | None | N |
| V/C | 0.8921 | likely_pathogenic | 0.8831 | pathogenic | -1.862 | Destabilizing | 0.947 | D | 0.749 | deleterious | None | None | None | None | N |
| V/D | 0.9847 | likely_pathogenic | 0.9919 | pathogenic | -2.397 | Highly Destabilizing | 0.7 | D | 0.783 | deleterious | None | None | None | None | N |
| V/E | 0.9707 | likely_pathogenic | 0.9831 | pathogenic | -2.35 | Highly Destabilizing | 0.638 | D | 0.737 | prob.delet. | D | 0.682158631 | None | None | N |
| V/F | 0.8686 | likely_pathogenic | 0.9191 | pathogenic | -1.44 | Destabilizing | 0.826 | D | 0.782 | deleterious | None | None | None | None | N |
| V/G | 0.7773 | likely_pathogenic | 0.8272 | pathogenic | -2.096 | Highly Destabilizing | 0.638 | D | 0.752 | deleterious | D | 0.719745645 | None | None | N |
| V/H | 0.9932 | likely_pathogenic | 0.9958 | pathogenic | -1.601 | Destabilizing | 0.982 | D | 0.789 | deleterious | None | None | None | None | N |
| V/I | 0.1279 | likely_benign | 0.1263 | benign | -0.858 | Destabilizing | 0.094 | N | 0.502 | neutral | D | 0.560860349 | None | None | N |
| V/K | 0.9781 | likely_pathogenic | 0.9869 | pathogenic | -1.476 | Destabilizing | 0.7 | D | 0.736 | prob.delet. | None | None | None | None | N |
| V/L | 0.6086 | likely_pathogenic | 0.6328 | pathogenic | -0.858 | Destabilizing | 0.094 | N | 0.511 | neutral | N | 0.521826077 | None | None | N |
| V/M | 0.5863 | likely_pathogenic | 0.637 | pathogenic | -0.932 | Destabilizing | 0.826 | D | 0.745 | deleterious | None | None | None | None | N |
| V/N | 0.9379 | likely_pathogenic | 0.9603 | pathogenic | -1.545 | Destabilizing | 0.7 | D | 0.793 | deleterious | None | None | None | None | N |
| V/P | 0.9474 | likely_pathogenic | 0.9653 | pathogenic | -1.124 | Destabilizing | 0.826 | D | 0.77 | deleterious | None | None | None | None | N |
| V/Q | 0.9702 | likely_pathogenic | 0.9827 | pathogenic | -1.714 | Destabilizing | 0.826 | D | 0.785 | deleterious | None | None | None | None | N |
| V/R | 0.9635 | likely_pathogenic | 0.9767 | pathogenic | -1.009 | Destabilizing | 0.7 | D | 0.805 | deleterious | None | None | None | None | N |
| V/S | 0.8225 | likely_pathogenic | 0.8693 | pathogenic | -2.076 | Highly Destabilizing | 0.539 | D | 0.693 | prob.neutral | None | None | None | None | N |
| V/T | 0.5257 | ambiguous | 0.5898 | pathogenic | -1.913 | Destabilizing | 0.002 | N | 0.359 | neutral | None | None | None | None | N |
| V/W | 0.9975 | likely_pathogenic | 0.9983 | pathogenic | -1.671 | Destabilizing | 0.982 | D | 0.741 | deleterious | None | None | None | None | N |
| V/Y | 0.9869 | likely_pathogenic | 0.9923 | pathogenic | -1.342 | Destabilizing | 0.826 | D | 0.782 | 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.