Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25433 | 76522;76523;76524 | chr2:178569835;178569834;178569833 | chr2:179434562;179434561;179434560 |
| N2AB | 23792 | 71599;71600;71601 | chr2:178569835;178569834;178569833 | chr2:179434562;179434561;179434560 |
| N2A | 22865 | 68818;68819;68820 | chr2:178569835;178569834;178569833 | chr2:179434562;179434561;179434560 |
| N2B | 16368 | 49327;49328;49329 | chr2:178569835;178569834;178569833 | chr2:179434562;179434561;179434560 |
| Novex-1 | 16493 | 49702;49703;49704 | chr2:178569835;178569834;178569833 | chr2:179434562;179434561;179434560 |
| Novex-2 | 16560 | 49903;49904;49905 | chr2:178569835;178569834;178569833 | chr2:179434562;179434561;179434560 |
| 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 | None | None | 1.0 | N | 0.842 | 0.607 | 0.322786055943 | gnomAD-4.0.0 | 3.18373E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.55031E-05 | 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 | 0.9449 | likely_pathogenic | 0.9499 | pathogenic | -0.391 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.513810903 | None | None | I |
| G/C | 0.9881 | likely_pathogenic | 0.9871 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.521661716 | None | None | I |
| G/D | 0.9958 | likely_pathogenic | 0.9958 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.842 | deleterious | N | 0.501276055 | None | None | I |
| G/E | 0.9974 | likely_pathogenic | 0.9971 | pathogenic | -0.799 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/F | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/H | 0.9982 | likely_pathogenic | 0.9978 | pathogenic | -0.7 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/I | 0.9985 | likely_pathogenic | 0.9984 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/K | 0.9977 | likely_pathogenic | 0.9971 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
| G/L | 0.9978 | likely_pathogenic | 0.9979 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/M | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -0.383 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/N | 0.9952 | likely_pathogenic | 0.9948 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/Q | 0.997 | likely_pathogenic | 0.9965 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/R | 0.9904 | likely_pathogenic | 0.9878 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.852 | deleterious | N | 0.482032938 | None | None | I |
| G/S | 0.9297 | likely_pathogenic | 0.9264 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.814 | deleterious | N | 0.507770515 | None | None | I |
| G/T | 0.9935 | likely_pathogenic | 0.9938 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/V | 0.9965 | likely_pathogenic | 0.9965 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.842 | deleterious | N | 0.521408227 | None | None | I |
| G/W | 0.997 | likely_pathogenic | 0.9958 | pathogenic | -1.225 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| G/Y | 0.9977 | likely_pathogenic | 0.9977 | pathogenic | -0.87 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
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.