Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17540 | 52843;52844;52845 | chr2:178608265;178608264;178608263 | chr2:179472992;179472991;179472990 |
| N2AB | 15899 | 47920;47921;47922 | chr2:178608265;178608264;178608263 | chr2:179472992;179472991;179472990 |
| N2A | 14972 | 45139;45140;45141 | chr2:178608265;178608264;178608263 | chr2:179472992;179472991;179472990 |
| N2B | 8475 | 25648;25649;25650 | chr2:178608265;178608264;178608263 | chr2:179472992;179472991;179472990 |
| Novex-1 | 8600 | 26023;26024;26025 | chr2:178608265;178608264;178608263 | chr2:179472992;179472991;179472990 |
| Novex-2 | 8667 | 26224;26225;26226 | chr2:178608265;178608264;178608263 | chr2:179472992;179472991;179472990 |
| 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 | rs1013723159  |
None | 1.0 | D | 0.863 | 0.905 | 0.897619347398 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | rs1013723159 |
None | 1.0 | D | 0.863 | 0.905 | 0.897619347398 | gnomAD-4.0.0 | 3.10274E-06 | None | None | None | None | N | None | 0 | 1.67191E-05 | None | 0 | 0 | None | 0 | 0 | 1.69663E-06 | 0 | 3.20935E-05 |
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 | 0.9939 | likely_pathogenic | 0.9961 | pathogenic | -3.196 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| Y/C | 0.928 | likely_pathogenic | 0.9494 | pathogenic | -1.933 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.652505405 | None | None | N |
| Y/D | 0.9957 | likely_pathogenic | 0.9965 | pathogenic | -3.539 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.678043517 | None | None | N |
| Y/E | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | -3.344 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| Y/F | 0.4338 | ambiguous | 0.4561 | ambiguous | -1.157 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | D | 0.61493581 | None | None | N |
| Y/G | 0.9884 | likely_pathogenic | 0.9917 | pathogenic | -3.606 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| Y/H | 0.9863 | likely_pathogenic | 0.9869 | pathogenic | -2.133 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.661791991 | None | None | N |
| Y/I | 0.9702 | likely_pathogenic | 0.9782 | pathogenic | -1.832 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| Y/K | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -2.376 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| Y/L | 0.9475 | likely_pathogenic | 0.9532 | pathogenic | -1.832 | Destabilizing | 0.999 | D | 0.799 | deleterious | None | None | None | None | N |
| Y/M | 0.982 | likely_pathogenic | 0.9874 | pathogenic | -1.554 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| Y/N | 0.9742 | likely_pathogenic | 0.9816 | pathogenic | -3.145 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.652303601 | None | None | N |
| Y/P | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -2.301 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| Y/Q | 0.9984 | likely_pathogenic | 0.9989 | pathogenic | -2.919 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| Y/R | 0.9959 | likely_pathogenic | 0.9963 | pathogenic | -2.046 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| Y/S | 0.9753 | likely_pathogenic | 0.9831 | pathogenic | -3.487 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.678043517 | None | None | N |
| Y/T | 0.9907 | likely_pathogenic | 0.994 | pathogenic | -3.177 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| Y/V | 0.9 | likely_pathogenic | 0.9326 | pathogenic | -2.301 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| Y/W | 0.8771 | likely_pathogenic | 0.8665 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.821 | 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.