Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2905 | 8938;8939;8940 | chr2:178769868;178769867;178769866 | chr2:179634595;179634594;179634593 |
| N2AB | 2905 | 8938;8939;8940 | chr2:178769868;178769867;178769866 | chr2:179634595;179634594;179634593 |
| N2A | 2905 | 8938;8939;8940 | chr2:178769868;178769867;178769866 | chr2:179634595;179634594;179634593 |
| N2B | 2859 | 8800;8801;8802 | chr2:178769868;178769867;178769866 | chr2:179634595;179634594;179634593 |
| Novex-1 | 2859 | 8800;8801;8802 | chr2:178769868;178769867;178769866 | chr2:179634595;179634594;179634593 |
| Novex-2 | 2859 | 8800;8801;8802 | chr2:178769868;178769867;178769866 | chr2:179634595;179634594;179634593 |
| Novex-3 | 2905 | 8938;8939;8940 | chr2:178769868;178769867;178769866 | chr2:179634595;179634594;179634593 |
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 | None | None | 0.999 | D | 0.612 | 0.674 | 0.728496969568 | gnomAD-4.0.0 | 1.59052E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85651E-06 | 0 | 0 |
| V/L | rs369380469  |
None | 0.997 | N | 0.623 | 0.424 | 0.582828786496 | gnomAD-4.0.0 | 2.05221E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69789E-06 | 0 | 0 |
| V/M | rs369380469 |
-0.997 | 1.0 | D | 0.787 | 0.592 | None | gnomAD-2.1.1 | 1.06E-05 | None | None | None | None | N | None | 4.01E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.55E-05 | 0 |
| V/M | rs369380469 |
-0.997 | 1.0 | D | 0.787 | 0.592 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/M | rs369380469 |
-0.997 | 1.0 | D | 0.787 | 0.592 | None | gnomAD-4.0.0 | 5.5763E-06 | None | None | None | None | N | None | 1.33518E-05 | 0 | None | 0 | 6.68419E-05 | None | 0 | 0 | 4.23727E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.9501 | likely_pathogenic | 0.9124 | pathogenic | -1.817 | Destabilizing | 0.999 | D | 0.612 | neutral | D | 0.53118252 | None | None | N |
| V/C | 0.9907 | likely_pathogenic | 0.9858 | pathogenic | -1.669 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| V/D | 0.9962 | likely_pathogenic | 0.9949 | pathogenic | -3.036 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/E | 0.9929 | likely_pathogenic | 0.9901 | pathogenic | -2.888 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.696960939 | None | None | N |
| V/F | 0.9556 | likely_pathogenic | 0.9188 | pathogenic | -0.814 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| V/G | 0.9254 | likely_pathogenic | 0.9093 | pathogenic | -2.217 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.718843951 | None | None | N |
| V/H | 0.9984 | likely_pathogenic | 0.9979 | pathogenic | -1.985 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| V/I | 0.3082 | likely_benign | 0.2471 | benign | -0.704 | Destabilizing | 0.998 | D | 0.548 | neutral | None | None | None | None | N |
| V/K | 0.9945 | likely_pathogenic | 0.9929 | pathogenic | -1.551 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| V/L | 0.9274 | likely_pathogenic | 0.8783 | pathogenic | -0.704 | Destabilizing | 0.997 | D | 0.623 | neutral | N | 0.520998933 | None | None | N |
| V/M | 0.9308 | likely_pathogenic | 0.8777 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.756771767 | None | None | N |
| V/N | 0.9869 | likely_pathogenic | 0.9838 | pathogenic | -1.871 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| V/P | 0.9972 | likely_pathogenic | 0.9959 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| V/Q | 0.9955 | likely_pathogenic | 0.9938 | pathogenic | -1.749 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| V/R | 0.9918 | likely_pathogenic | 0.9896 | pathogenic | -1.36 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| V/S | 0.9772 | likely_pathogenic | 0.9672 | pathogenic | -2.239 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| V/T | 0.9355 | likely_pathogenic | 0.9077 | pathogenic | -1.997 | Destabilizing | 0.999 | D | 0.655 | neutral | None | None | None | None | N |
| V/W | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -1.424 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| V/Y | 0.9941 | likely_pathogenic | 0.9912 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.851 | 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.