Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5340 | 16243;16244;16245 | chr2:178733275;178733274;178733273 | chr2:179598002;179598001;179598000 |
| N2AB | 5023 | 15292;15293;15294 | chr2:178733275;178733274;178733273 | chr2:179598002;179598001;179598000 |
| N2A | 4096 | 12511;12512;12513 | chr2:178733275;178733274;178733273 | chr2:179598002;179598001;179598000 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs2080874147  |
None | 1.0 | D | 0.856 | 0.681 | 0.663816143375 | gnomAD-4.0.0 | 2.74285E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60455E-06 | 0 | 0 |
| G/S | rs759610759 |
-0.003 | 1.0 | D | 0.811 | 0.576 | 0.57433219186 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs759610759 |
-0.003 | 1.0 | D | 0.811 | 0.576 | 0.57433219186 | gnomAD-4.0.0 | 1.37117E-06 | None | None | None | None | N | None | 2.99312E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01042E-07 | 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 | 0.7466 | likely_pathogenic | 0.7815 | pathogenic | -0.173 | Destabilizing | 1.0 | D | 0.754 | deleterious | D | 0.609658589 | None | None | N |
| G/C | 0.9199 | likely_pathogenic | 0.933 | pathogenic | -0.854 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.648247924 | None | None | N |
| G/D | 0.8814 | likely_pathogenic | 0.9031 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.598343242 | None | None | N |
| G/E | 0.9409 | likely_pathogenic | 0.9557 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/F | 0.9819 | likely_pathogenic | 0.9863 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/H | 0.979 | likely_pathogenic | 0.9828 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/I | 0.9754 | likely_pathogenic | 0.9824 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/K | 0.9839 | likely_pathogenic | 0.9872 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/L | 0.976 | likely_pathogenic | 0.9811 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/M | 0.9851 | likely_pathogenic | 0.9883 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/N | 0.9428 | likely_pathogenic | 0.9506 | pathogenic | -0.225 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/P | 0.9978 | likely_pathogenic | 0.9983 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/Q | 0.9607 | likely_pathogenic | 0.9677 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/R | 0.9564 | likely_pathogenic | 0.9646 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.598948655 | None | None | N |
| G/S | 0.626 | likely_pathogenic | 0.6647 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.561459423 | None | None | N |
| G/T | 0.9029 | likely_pathogenic | 0.923 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/V | 0.9541 | likely_pathogenic | 0.9667 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.63159279 | None | None | N |
| G/W | 0.975 | likely_pathogenic | 0.9805 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/Y | 0.9728 | likely_pathogenic | 0.9782 | pathogenic | -0.742 | Destabilizing | 1.0 | D | 0.841 | 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.