Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16924 | 50995;50996;50997 | chr2:178611459;178611458;178611457 | chr2:179476186;179476185;179476184 |
| N2AB | 15283 | 46072;46073;46074 | chr2:178611459;178611458;178611457 | chr2:179476186;179476185;179476184 |
| N2A | 14356 | 43291;43292;43293 | chr2:178611459;178611458;178611457 | chr2:179476186;179476185;179476184 |
| N2B | 7859 | 23800;23801;23802 | chr2:178611459;178611458;178611457 | chr2:179476186;179476185;179476184 |
| Novex-1 | 7984 | 24175;24176;24177 | chr2:178611459;178611458;178611457 | chr2:179476186;179476185;179476184 |
| Novex-2 | 8051 | 24376;24377;24378 | chr2:178611459;178611458;178611457 | chr2:179476186;179476185;179476184 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs768626961  |
-2.144 | 1.0 | D | 0.871 | 0.849 | 0.931729846743 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Y/C | rs768626961 |
-2.144 | 1.0 | D | 0.871 | 0.849 | 0.931729846743 | gnomAD-4.0.0 | 1.59306E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43312E-05 | 0 |
| Y/F | rs768626961 |
-1.244 | 0.999 | D | 0.739 | 0.811 | 0.82113241323 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Y/F | rs768626961 |
-1.244 | 0.999 | D | 0.739 | 0.811 | 0.82113241323 | gnomAD-4.0.0 | 1.59306E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43312E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9931 | likely_pathogenic | 0.9957 | pathogenic | -3.452 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| Y/C | 0.9551 | likely_pathogenic | 0.9695 | pathogenic | -2.123 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.781187467 | None | None | N |
| Y/D | 0.9939 | likely_pathogenic | 0.9945 | pathogenic | -3.843 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.781187467 | None | None | N |
| Y/E | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -3.664 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| Y/F | 0.3348 | likely_benign | 0.3678 | ambiguous | -1.434 | Destabilizing | 0.999 | D | 0.739 | prob.delet. | D | 0.689502607 | None | None | N |
| Y/G | 0.982 | likely_pathogenic | 0.9881 | pathogenic | -3.833 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| Y/H | 0.9803 | likely_pathogenic | 0.9808 | pathogenic | -2.339 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.748919114 | None | None | N |
| Y/I | 0.9704 | likely_pathogenic | 0.9739 | pathogenic | -2.176 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| Y/K | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -2.78 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| Y/L | 0.9385 | likely_pathogenic | 0.9487 | pathogenic | -2.176 | Highly Destabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | N |
| Y/M | 0.9739 | likely_pathogenic | 0.9799 | pathogenic | -1.765 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| Y/N | 0.96 | likely_pathogenic | 0.967 | pathogenic | -3.519 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.781481215 | None | None | N |
| Y/P | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -2.617 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| Y/Q | 0.9985 | likely_pathogenic | 0.9988 | pathogenic | -3.32 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| Y/R | 0.9966 | likely_pathogenic | 0.9969 | pathogenic | -2.347 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| Y/S | 0.9875 | likely_pathogenic | 0.9895 | pathogenic | -3.811 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.781187467 | None | None | N |
| Y/T | 0.9935 | likely_pathogenic | 0.9946 | pathogenic | -3.531 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| Y/V | 0.9435 | likely_pathogenic | 0.9539 | pathogenic | -2.617 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| Y/W | 0.8869 | likely_pathogenic | 0.8904 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.823 | 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.