Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20069 | 60430;60431;60432 | chr2:178591614;178591613;178591612 | chr2:179456341;179456340;179456339 |
| N2AB | 18428 | 55507;55508;55509 | chr2:178591614;178591613;178591612 | chr2:179456341;179456340;179456339 |
| N2A | 17501 | 52726;52727;52728 | chr2:178591614;178591613;178591612 | chr2:179456341;179456340;179456339 |
| N2B | 11004 | 33235;33236;33237 | chr2:178591614;178591613;178591612 | chr2:179456341;179456340;179456339 |
| Novex-1 | 11129 | 33610;33611;33612 | chr2:178591614;178591613;178591612 | chr2:179456341;179456340;179456339 |
| Novex-2 | 11196 | 33811;33812;33813 | chr2:178591614;178591613;178591612 | chr2:179456341;179456340;179456339 |
| 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/R | rs771201679  |
-1.388 | 0.999 | N | 0.785 | 0.563 | 0.643388216043 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| C/R | rs771201679 |
-1.388 | 0.999 | N | 0.785 | 0.563 | 0.643388216043 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| C/R | rs771201679 |
-1.388 | 0.999 | N | 0.785 | 0.563 | 0.643388216043 | gnomAD-4.0.0 | 2.41953E-05 | None | None | None | None | N | None | 2.67465E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88308E-05 | 0 | 4.80831E-05 |
| C/S | rs763176338 |
-1.797 | 0.999 | N | 0.791 | 0.501 | 0.671962694875 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.35E-05 | None | 0 | 0 | 0 |
| C/S | rs763176338 |
-1.797 | 0.999 | N | 0.791 | 0.501 | 0.671962694875 | gnomAD-4.0.0 | 1.59649E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.45108E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.779 | likely_pathogenic | 0.7372 | pathogenic | -0.661 | Destabilizing | 0.995 | D | 0.515 | neutral | None | None | None | None | N |
| C/D | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -1.67 | Destabilizing | 0.999 | D | 0.799 | deleterious | None | None | None | None | N |
| C/E | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -1.526 | Destabilizing | 0.999 | D | 0.794 | deleterious | None | None | None | None | N |
| C/F | 0.9447 | likely_pathogenic | 0.9393 | pathogenic | -0.691 | Destabilizing | 0.999 | D | 0.805 | deleterious | N | 0.479154962 | None | None | N |
| C/G | 0.8565 | likely_pathogenic | 0.8339 | pathogenic | -0.884 | Destabilizing | 0.999 | D | 0.801 | deleterious | N | 0.479154962 | None | None | N |
| C/H | 0.9973 | likely_pathogenic | 0.9972 | pathogenic | -1.532 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| C/I | 0.7634 | likely_pathogenic | 0.7413 | pathogenic | -0.122 | Destabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | N |
| C/K | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -0.511 | Destabilizing | 0.999 | D | 0.801 | deleterious | None | None | None | None | N |
| C/L | 0.8585 | likely_pathogenic | 0.8356 | pathogenic | -0.122 | Destabilizing | 0.998 | D | 0.661 | prob.neutral | None | None | None | None | N |
| C/M | 0.935 | likely_pathogenic | 0.9258 | pathogenic | -0.039 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| C/N | 0.9878 | likely_pathogenic | 0.9876 | pathogenic | -0.927 | Destabilizing | 0.999 | D | 0.79 | deleterious | None | None | None | None | N |
| C/P | 0.9731 | likely_pathogenic | 0.9552 | pathogenic | -0.277 | Destabilizing | 0.999 | D | 0.794 | deleterious | None | None | None | None | N |
| C/Q | 0.9973 | likely_pathogenic | 0.9968 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| C/R | 0.9939 | likely_pathogenic | 0.9927 | pathogenic | -0.875 | Destabilizing | 0.999 | D | 0.785 | deleterious | N | 0.477887515 | None | None | N |
| C/S | 0.9116 | likely_pathogenic | 0.9031 | pathogenic | -0.965 | Destabilizing | 0.999 | D | 0.791 | deleterious | N | 0.505771368 | None | None | N |
| C/T | 0.9016 | likely_pathogenic | 0.8763 | pathogenic | -0.695 | Destabilizing | 0.999 | D | 0.786 | deleterious | None | None | None | None | N |
| C/V | 0.6532 | likely_pathogenic | 0.6256 | pathogenic | -0.277 | Destabilizing | 0.998 | D | 0.71 | prob.delet. | None | None | None | None | N |
| C/W | 0.9957 | likely_pathogenic | 0.9957 | pathogenic | -1.259 | Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.499000112 | None | None | N |
| C/Y | 0.9847 | likely_pathogenic | 0.9849 | pathogenic | -0.802 | Destabilizing | 0.999 | D | 0.803 | deleterious | N | 0.477887514 | 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.