Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25222 | 75889;75890;75891 | chr2:178570468;178570467;178570466 | chr2:179435195;179435194;179435193 |
| N2AB | 23581 | 70966;70967;70968 | chr2:178570468;178570467;178570466 | chr2:179435195;179435194;179435193 |
| N2A | 22654 | 68185;68186;68187 | chr2:178570468;178570467;178570466 | chr2:179435195;179435194;179435193 |
| N2B | 16157 | 48694;48695;48696 | chr2:178570468;178570467;178570466 | chr2:179435195;179435194;179435193 |
| Novex-1 | 16282 | 49069;49070;49071 | chr2:178570468;178570467;178570466 | chr2:179435195;179435194;179435193 |
| Novex-2 | 16349 | 49270;49271;49272 | chr2:178570468;178570467;178570466 | chr2:179435195;179435194;179435193 |
| 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/G | rs1227452982  |
-2.239 | 1.0 | N | 0.828 | 0.551 | 0.767990004342 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.63E-05 | None | 0 | None | 0 | 0 | 0 |
| C/R | rs1227452982 |
None | 1.0 | N | 0.871 | 0.562 | 0.746189542618 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/R | rs1227452982 |
None | 1.0 | N | 0.871 | 0.562 | 0.746189542618 | gnomAD-4.0.0 | 2.47987E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39113E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5595 | ambiguous | 0.6447 | pathogenic | -1.548 | Destabilizing | 0.998 | D | 0.626 | neutral | None | None | None | None | N |
| C/D | 0.9984 | likely_pathogenic | 0.999 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| C/E | 0.9987 | likely_pathogenic | 0.9992 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| C/F | 0.6957 | likely_pathogenic | 0.7575 | pathogenic | -1.144 | Destabilizing | 1.0 | D | 0.863 | deleterious | N | 0.479857345 | None | None | N |
| C/G | 0.611 | likely_pathogenic | 0.6811 | pathogenic | -1.903 | Destabilizing | 1.0 | D | 0.828 | deleterious | N | 0.498975559 | None | None | N |
| C/H | 0.9944 | likely_pathogenic | 0.9963 | pathogenic | -2.216 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| C/I | 0.5611 | ambiguous | 0.6682 | pathogenic | -0.603 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| C/K | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| C/L | 0.5774 | likely_pathogenic | 0.6682 | pathogenic | -0.603 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | None | None | None | None | N |
| C/M | 0.6928 | likely_pathogenic | 0.7574 | pathogenic | -0.017 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| C/N | 0.9884 | likely_pathogenic | 0.9922 | pathogenic | -1.127 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| C/P | 0.999 | likely_pathogenic | 0.9994 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| C/Q | 0.9952 | likely_pathogenic | 0.9967 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| C/R | 0.9932 | likely_pathogenic | 0.9957 | pathogenic | -1.047 | Destabilizing | 1.0 | D | 0.871 | deleterious | N | 0.517079814 | None | None | N |
| C/S | 0.7885 | likely_pathogenic | 0.8386 | pathogenic | -1.484 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.484732417 | None | None | N |
| C/T | 0.8271 | likely_pathogenic | 0.8742 | pathogenic | -1.061 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| C/V | 0.3985 | ambiguous | 0.4873 | ambiguous | -0.893 | Destabilizing | 0.999 | D | 0.757 | deleterious | None | None | None | None | N |
| C/W | 0.9801 | likely_pathogenic | 0.9875 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.862 | deleterious | N | 0.498975559 | None | None | N |
| C/Y | 0.9254 | likely_pathogenic | 0.9482 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.878 | deleterious | N | 0.493949129 | 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.