Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17830 | 53713;53714;53715 | chr2:178607114;178607113;178607112 | chr2:179471841;179471840;179471839 |
| N2AB | 16189 | 48790;48791;48792 | chr2:178607114;178607113;178607112 | chr2:179471841;179471840;179471839 |
| N2A | 15262 | 46009;46010;46011 | chr2:178607114;178607113;178607112 | chr2:179471841;179471840;179471839 |
| N2B | 8765 | 26518;26519;26520 | chr2:178607114;178607113;178607112 | chr2:179471841;179471840;179471839 |
| Novex-1 | 8890 | 26893;26894;26895 | chr2:178607114;178607113;178607112 | chr2:179471841;179471840;179471839 |
| Novex-2 | 8957 | 27094;27095;27096 | chr2:178607114;178607113;178607112 | chr2:179471841;179471840;179471839 |
| 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/E | rs774099078  |
-0.815 | 0.989 | N | 0.66 | 0.433 | 0.46435556306 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/E | rs774099078 |
-0.815 | 0.989 | N | 0.66 | 0.433 | 0.46435556306 | gnomAD-4.0.0 | 1.5934E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86203E-06 | 0 | 0 |
| G/R | rs759231562 |
-0.605 | 1.0 | D | 0.868 | 0.584 | 0.647029427368 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/R | rs759231562 |
-0.605 | 1.0 | D | 0.868 | 0.584 | 0.647029427368 | gnomAD-4.0.0 | 4.10769E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39912E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7915 | likely_pathogenic | 0.7573 | pathogenic | -0.608 | Destabilizing | 0.999 | D | 0.675 | neutral | N | 0.512259146 | None | None | I |
| G/C | 0.8474 | likely_pathogenic | 0.8474 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/D | 0.7567 | likely_pathogenic | 0.697 | pathogenic | -1.153 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| G/E | 0.8803 | likely_pathogenic | 0.8469 | pathogenic | -1.282 | Destabilizing | 0.989 | D | 0.66 | neutral | N | 0.485925684 | None | None | I |
| G/F | 0.9721 | likely_pathogenic | 0.9584 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/H | 0.9203 | likely_pathogenic | 0.8905 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/I | 0.9814 | likely_pathogenic | 0.9781 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
| G/K | 0.9419 | likely_pathogenic | 0.9294 | pathogenic | -1.328 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/L | 0.9559 | likely_pathogenic | 0.9388 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/M | 0.9564 | likely_pathogenic | 0.942 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/N | 0.624 | likely_pathogenic | 0.5395 | ambiguous | -0.916 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/P | 0.9976 | likely_pathogenic | 0.9982 | pathogenic | -0.518 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/Q | 0.8902 | likely_pathogenic | 0.8601 | pathogenic | -1.202 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/R | 0.9261 | likely_pathogenic | 0.9107 | pathogenic | -0.802 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.524540504 | None | None | I |
| G/S | 0.5311 | ambiguous | 0.4732 | ambiguous | -1.055 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/T | 0.8469 | likely_pathogenic | 0.8192 | pathogenic | -1.123 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/V | 0.961 | likely_pathogenic | 0.9554 | pathogenic | -0.518 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.525300972 | None | None | I |
| G/W | 0.9585 | likely_pathogenic | 0.9477 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/Y | 0.9337 | likely_pathogenic | 0.9071 | pathogenic | -1.007 | Destabilizing | 1.0 | D | 0.865 | 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.