Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21958 | 66097;66098;66099 | chr2:178582584;178582583;178582582 | chr2:179447311;179447310;179447309 |
| N2AB | 20317 | 61174;61175;61176 | chr2:178582584;178582583;178582582 | chr2:179447311;179447310;179447309 |
| N2A | 19390 | 58393;58394;58395 | chr2:178582584;178582583;178582582 | chr2:179447311;179447310;179447309 |
| N2B | 12893 | 38902;38903;38904 | chr2:178582584;178582583;178582582 | chr2:179447311;179447310;179447309 |
| Novex-1 | 13018 | 39277;39278;39279 | chr2:178582584;178582583;178582582 | chr2:179447311;179447310;179447309 |
| Novex-2 | 13085 | 39478;39479;39480 | chr2:178582584;178582583;178582582 | chr2:179447311;179447310;179447309 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1221271558  |
None | 1.0 | N | 0.81 | 0.482 | 0.31501682445 | gnomAD-4.0.0 | 7.56872E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.7834E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6567 | likely_pathogenic | 0.5825 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.661 | neutral | N | 0.499472992 | None | None | N |
| G/C | 0.9244 | likely_pathogenic | 0.8711 | pathogenic | -1.219 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.535734409 | None | None | N |
| G/D | 0.9791 | likely_pathogenic | 0.9593 | pathogenic | -2.403 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | N | 0.485354755 | None | None | N |
| G/E | 0.9764 | likely_pathogenic | 0.9557 | pathogenic | -2.418 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/F | 0.9835 | likely_pathogenic | 0.9769 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/H | 0.992 | likely_pathogenic | 0.9831 | pathogenic | -1.473 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/I | 0.9729 | likely_pathogenic | 0.958 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/K | 0.9903 | likely_pathogenic | 0.9787 | pathogenic | -1.397 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/L | 0.9579 | likely_pathogenic | 0.9375 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/M | 0.9794 | likely_pathogenic | 0.9664 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/N | 0.9767 | likely_pathogenic | 0.959 | pathogenic | -1.298 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/P | 0.997 | likely_pathogenic | 0.9955 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/Q | 0.978 | likely_pathogenic | 0.9604 | pathogenic | -1.486 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/R | 0.9799 | likely_pathogenic | 0.9589 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.53472045 | None | None | N |
| G/S | 0.6234 | likely_pathogenic | 0.499 | ambiguous | -1.429 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | N | 0.479172556 | None | None | N |
| G/T | 0.9251 | likely_pathogenic | 0.8606 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/V | 0.9512 | likely_pathogenic | 0.9233 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.512514819 | None | None | N |
| G/W | 0.985 | likely_pathogenic | 0.9748 | pathogenic | -1.558 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| G/Y | 0.986 | likely_pathogenic | 0.9763 | pathogenic | -1.136 | Destabilizing | 1.0 | D | 0.806 | 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.