Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31188 | 93787;93788;93789 | chr2:178548064;178548063;178548062 | chr2:179412791;179412790;179412789 |
| N2AB | 29547 | 88864;88865;88866 | chr2:178548064;178548063;178548062 | chr2:179412791;179412790;179412789 |
| N2A | 28620 | 86083;86084;86085 | chr2:178548064;178548063;178548062 | chr2:179412791;179412790;179412789 |
| N2B | 22123 | 66592;66593;66594 | chr2:178548064;178548063;178548062 | chr2:179412791;179412790;179412789 |
| Novex-1 | 22248 | 66967;66968;66969 | chr2:178548064;178548063;178548062 | chr2:179412791;179412790;179412789 |
| Novex-2 | 22315 | 67168;67169;67170 | chr2:178548064;178548063;178548062 | chr2:179412791;179412790;179412789 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | None | None | 1.0 | D | 0.797 | 0.841 | 0.637288232684 | 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 |
| A/V | None | None | 1.0 | D | 0.697 | 0.729 | 0.781910742172 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8869 | likely_pathogenic | 0.9052 | pathogenic | -1.547 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/D | 0.9973 | likely_pathogenic | 0.9966 | pathogenic | -2.622 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.644310048 | None | None | N |
| A/E | 0.9944 | likely_pathogenic | 0.9922 | pathogenic | -2.363 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| A/F | 0.9953 | likely_pathogenic | 0.9945 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| A/G | 0.5848 | likely_pathogenic | 0.5565 | ambiguous | -2.455 | Highly Destabilizing | 1.0 | D | 0.599 | neutral | D | 0.605317105 | None | None | N |
| A/H | 0.9984 | likely_pathogenic | 0.9981 | pathogenic | -2.276 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| A/I | 0.9837 | likely_pathogenic | 0.9821 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/K | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -1.34 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| A/L | 0.9321 | likely_pathogenic | 0.9221 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| A/M | 0.9626 | likely_pathogenic | 0.9596 | pathogenic | -1.181 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/N | 0.9923 | likely_pathogenic | 0.9912 | pathogenic | -1.821 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| A/P | 0.9886 | likely_pathogenic | 0.9838 | pathogenic | -1.117 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.595414388 | None | None | N |
| A/Q | 0.992 | likely_pathogenic | 0.9892 | pathogenic | -1.484 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| A/R | 0.9972 | likely_pathogenic | 0.9958 | pathogenic | -1.529 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| A/S | 0.3801 | ambiguous | 0.3894 | ambiguous | -2.19 | Highly Destabilizing | 1.0 | D | 0.593 | neutral | D | 0.573833794 | None | None | N |
| A/T | 0.7369 | likely_pathogenic | 0.7441 | pathogenic | -1.819 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.627281666 | None | None | N |
| A/V | 0.8792 | likely_pathogenic | 0.8687 | pathogenic | -1.117 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | D | 0.617157502 | None | None | N |
| A/W | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| A/Y | 0.9975 | likely_pathogenic | 0.997 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.913 | 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.