Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2933 | 9022;9023;9024 | chr2:178769784;178769783;178769782 | chr2:179634511;179634510;179634509 |
| N2AB | 2933 | 9022;9023;9024 | chr2:178769784;178769783;178769782 | chr2:179634511;179634510;179634509 |
| N2A | 2933 | 9022;9023;9024 | chr2:178769784;178769783;178769782 | chr2:179634511;179634510;179634509 |
| N2B | 2887 | 8884;8885;8886 | chr2:178769784;178769783;178769782 | chr2:179634511;179634510;179634509 |
| Novex-1 | 2887 | 8884;8885;8886 | chr2:178769784;178769783;178769782 | chr2:179634511;179634510;179634509 |
| Novex-2 | 2887 | 8884;8885;8886 | chr2:178769784;178769783;178769782 | chr2:179634511;179634510;179634509 |
| Novex-3 | 2933 | 9022;9023;9024 | chr2:178769784;178769783;178769782 | chr2:179634511;179634510;179634509 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs1406534791  |
None | 1.0 | D | 0.675 | 0.729 | 0.77929513315 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.94 | likely_pathogenic | 0.8377 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.591 | neutral | D | 0.665795385 | None | None | N |
| G/C | 0.9837 | likely_pathogenic | 0.9425 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| G/D | 0.9495 | likely_pathogenic | 0.8292 | pathogenic | -1.084 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/E | 0.9729 | likely_pathogenic | 0.8975 | pathogenic | -1.154 | Destabilizing | 1.0 | D | 0.675 | neutral | D | 0.663150778 | None | None | N |
| G/F | 0.9972 | likely_pathogenic | 0.9934 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| G/H | 0.9936 | likely_pathogenic | 0.9771 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| G/I | 0.9965 | likely_pathogenic | 0.9911 | pathogenic | -0.24 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| G/K | 0.9932 | likely_pathogenic | 0.9765 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| G/L | 0.9944 | likely_pathogenic | 0.9846 | pathogenic | -0.24 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| G/M | 0.9952 | likely_pathogenic | 0.9865 | pathogenic | -0.229 | Destabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | N |
| G/N | 0.96 | likely_pathogenic | 0.8663 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/P | 0.999 | likely_pathogenic | 0.9973 | pathogenic | -0.292 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| G/Q | 0.9864 | likely_pathogenic | 0.9483 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| G/R | 0.988 | likely_pathogenic | 0.9558 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.659 | neutral | D | 0.67577457 | None | None | N |
| G/S | 0.8739 | likely_pathogenic | 0.6363 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| G/T | 0.9835 | likely_pathogenic | 0.9481 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| G/V | 0.9912 | likely_pathogenic | 0.976 | pathogenic | -0.292 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | D | 0.726824229 | None | None | N |
| G/W | 0.9887 | likely_pathogenic | 0.9745 | pathogenic | -1.284 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| G/Y | 0.9913 | likely_pathogenic | 0.9766 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.645 | neutral | 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.