Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5522 | 16789;16790;16791 | chr2:178732497;178732496;178732495 | chr2:179597224;179597223;179597222 |
| N2AB | 5205 | 15838;15839;15840 | chr2:178732497;178732496;178732495 | chr2:179597224;179597223;179597222 |
| N2A | 4278 | 13057;13058;13059 | chr2:178732497;178732496;178732495 | chr2:179597224;179597223;179597222 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs2080729558  |
None | 0.98 | D | 0.853 | 0.662 | 0.868008026345 | gnomAD-4.0.0 | 1.36858E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52092E-05 | None | 0 | 0 | 8.9953E-07 | 0 | 0 |
| C/S | None | None | 0.659 | D | 0.631 | 0.578 | 0.733669960825 | gnomAD-4.0.0 | 1.36858E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79906E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.8736 | likely_pathogenic | 0.8611 | pathogenic | -1.624 | Destabilizing | 0.931 | D | 0.643 | neutral | None | None | None | None | N |
| C/D | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.59 | Destabilizing | 0.996 | D | 0.859 | deleterious | None | None | None | None | N |
| C/E | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -1.34 | Destabilizing | 0.996 | D | 0.861 | deleterious | None | None | None | None | N |
| C/F | 0.8012 | likely_pathogenic | 0.818 | pathogenic | -0.982 | Destabilizing | 0.999 | D | 0.85 | deleterious | D | 0.557256748 | None | None | N |
| C/G | 0.8107 | likely_pathogenic | 0.8109 | pathogenic | -1.978 | Destabilizing | 0.98 | D | 0.853 | deleterious | D | 0.558777685 | None | None | N |
| C/H | 0.9959 | likely_pathogenic | 0.9966 | pathogenic | -2.156 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| C/I | 0.8479 | likely_pathogenic | 0.8526 | pathogenic | -0.655 | Destabilizing | 0.998 | D | 0.779 | deleterious | None | None | None | None | N |
| C/K | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.102 | Destabilizing | 0.996 | D | 0.853 | deleterious | None | None | None | None | N |
| C/L | 0.7489 | likely_pathogenic | 0.7535 | pathogenic | -0.655 | Destabilizing | 0.993 | D | 0.767 | deleterious | None | None | None | None | N |
| C/M | 0.9134 | likely_pathogenic | 0.9194 | pathogenic | -0.145 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| C/N | 0.9943 | likely_pathogenic | 0.9947 | pathogenic | -1.737 | Destabilizing | 0.996 | D | 0.864 | deleterious | None | None | None | None | N |
| C/P | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -0.957 | Destabilizing | 0.998 | D | 0.873 | deleterious | None | None | None | None | N |
| C/Q | 0.997 | likely_pathogenic | 0.9975 | pathogenic | -1.229 | Destabilizing | 0.998 | D | 0.876 | deleterious | None | None | None | None | N |
| C/R | 0.9934 | likely_pathogenic | 0.9948 | pathogenic | -1.57 | Destabilizing | 0.997 | D | 0.871 | deleterious | D | 0.558777685 | None | None | N |
| C/S | 0.9379 | likely_pathogenic | 0.9372 | pathogenic | -2.018 | Highly Destabilizing | 0.659 | D | 0.631 | neutral | D | 0.558777685 | None | None | N |
| C/T | 0.9587 | likely_pathogenic | 0.9579 | pathogenic | -1.589 | Destabilizing | 0.971 | D | 0.762 | deleterious | None | None | None | None | N |
| C/V | 0.7077 | likely_pathogenic | 0.7084 | pathogenic | -0.957 | Destabilizing | 0.993 | D | 0.77 | deleterious | None | None | None | None | N |
| C/W | 0.9818 | likely_pathogenic | 0.986 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.558777685 | None | None | N |
| C/Y | 0.9573 | likely_pathogenic | 0.965 | pathogenic | -1.189 | Destabilizing | 0.999 | D | 0.861 | deleterious | D | 0.558777685 | 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.