Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25259 | 76000;76001;76002 | chr2:178570357;178570356;178570355 | chr2:179435084;179435083;179435082 |
| N2AB | 23618 | 71077;71078;71079 | chr2:178570357;178570356;178570355 | chr2:179435084;179435083;179435082 |
| N2A | 22691 | 68296;68297;68298 | chr2:178570357;178570356;178570355 | chr2:179435084;179435083;179435082 |
| N2B | 16194 | 48805;48806;48807 | chr2:178570357;178570356;178570355 | chr2:179435084;179435083;179435082 |
| Novex-1 | 16319 | 49180;49181;49182 | chr2:178570357;178570356;178570355 | chr2:179435084;179435083;179435082 |
| Novex-2 | 16386 | 49381;49382;49383 | chr2:178570357;178570356;178570355 | chr2:179435084;179435083;179435082 |
| 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/G | rs369977691  |
-2.565 | 1.0 | N | 0.819 | 0.471 | None | 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 |
| V/G | rs369977691 |
-2.565 | 1.0 | N | 0.819 | 0.471 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs369977691 |
-2.565 | 1.0 | N | 0.819 | 0.471 | None | gnomAD-4.0.0 | 2.56393E-06 | None | None | None | None | N | None | 0 | 3.39236E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4154 | ambiguous | 0.4225 | ambiguous | -1.976 | Destabilizing | 0.998 | D | 0.53 | neutral | N | 0.473162302 | None | None | N |
| V/C | 0.6949 | likely_pathogenic | 0.7225 | pathogenic | -1.722 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| V/D | 0.9223 | likely_pathogenic | 0.9306 | pathogenic | -2.605 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| V/E | 0.8051 | likely_pathogenic | 0.8353 | pathogenic | -2.472 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.479999157 | None | None | N |
| V/F | 0.4813 | ambiguous | 0.4895 | ambiguous | -1.327 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| V/G | 0.5785 | likely_pathogenic | 0.5944 | pathogenic | -2.433 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.462095485 | None | None | N |
| V/H | 0.893 | likely_pathogenic | 0.9109 | pathogenic | -2.112 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| V/I | 0.0821 | likely_benign | 0.0868 | benign | -0.739 | Destabilizing | 0.813 | D | 0.364 | neutral | None | None | None | None | N |
| V/K | 0.8018 | likely_pathogenic | 0.8403 | pathogenic | -1.607 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| V/L | 0.2922 | likely_benign | 0.3268 | benign | -0.739 | Destabilizing | 0.981 | D | 0.455 | neutral | N | 0.4956793 | None | None | N |
| V/M | 0.2637 | likely_benign | 0.2856 | benign | -0.79 | Destabilizing | 0.999 | D | 0.769 | deleterious | N | 0.487560482 | None | None | N |
| V/N | 0.7167 | likely_pathogenic | 0.7579 | pathogenic | -1.768 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| V/P | 0.9065 | likely_pathogenic | 0.9321 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| V/Q | 0.7211 | likely_pathogenic | 0.7572 | pathogenic | -1.766 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| V/R | 0.7538 | likely_pathogenic | 0.7953 | pathogenic | -1.288 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| V/S | 0.547 | ambiguous | 0.5738 | pathogenic | -2.349 | Highly Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| V/T | 0.4437 | ambiguous | 0.457 | ambiguous | -2.088 | Highly Destabilizing | 0.998 | D | 0.674 | neutral | None | None | None | None | N |
| V/W | 0.9652 | likely_pathogenic | 0.9711 | pathogenic | -1.755 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| V/Y | 0.8563 | likely_pathogenic | 0.8758 | pathogenic | -1.406 | Destabilizing | 1.0 | D | 0.843 | 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.