Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30345 | 91258;91259;91260 | chr2:178551867;178551866;178551865 | chr2:179416594;179416593;179416592 |
| N2AB | 28704 | 86335;86336;86337 | chr2:178551867;178551866;178551865 | chr2:179416594;179416593;179416592 |
| N2A | 27777 | 83554;83555;83556 | chr2:178551867;178551866;178551865 | chr2:179416594;179416593;179416592 |
| N2B | 21280 | 64063;64064;64065 | chr2:178551867;178551866;178551865 | chr2:179416594;179416593;179416592 |
| Novex-1 | 21405 | 64438;64439;64440 | chr2:178551867;178551866;178551865 | chr2:179416594;179416593;179416592 |
| Novex-2 | 21472 | 64639;64640;64641 | chr2:178551867;178551866;178551865 | chr2:179416594;179416593;179416592 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | 1.0 | D | 0.853 | 0.829 | 0.826212153317 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-06 | 0 | 0 |
| W/R | None | None | 1.0 | D | 0.912 | 0.869 | 0.901594544835 | gnomAD-4.0.0 | 1.59108E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.7669E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9962 | likely_pathogenic | 0.9955 | pathogenic | -3.626 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| W/C | 0.9971 | likely_pathogenic | 0.9968 | pathogenic | -1.995 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.664552991 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.887 | Highly Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.767 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| W/F | 0.7488 | likely_pathogenic | 0.7235 | pathogenic | -2.358 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| W/G | 0.9878 | likely_pathogenic | 0.9857 | pathogenic | -3.867 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.664552991 | None | None | N |
| W/H | 0.9982 | likely_pathogenic | 0.9979 | pathogenic | -2.906 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| W/I | 0.9929 | likely_pathogenic | 0.992 | pathogenic | -2.68 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.85 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| W/L | 0.9836 | likely_pathogenic | 0.9815 | pathogenic | -2.68 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.637804054 | None | None | N |
| W/M | 0.9946 | likely_pathogenic | 0.9935 | pathogenic | -2.087 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| W/N | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.545 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| W/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.029 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.389 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| W/R | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -2.52 | Highly Destabilizing | 1.0 | D | 0.912 | deleterious | D | 0.664552991 | None | None | N |
| W/S | 0.9947 | likely_pathogenic | 0.9937 | pathogenic | -3.681 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.664552991 | None | None | N |
| W/T | 0.9968 | likely_pathogenic | 0.9963 | pathogenic | -3.484 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| W/V | 0.9905 | likely_pathogenic | 0.9886 | pathogenic | -3.029 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| W/Y | 0.9587 | likely_pathogenic | 0.9511 | pathogenic | -2.217 | Highly Destabilizing | 1.0 | D | 0.847 | 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.