Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14778 | 44557;44558;44559 | chr2:178629393;178629392;178629391 | chr2:179494120;179494119;179494118 |
| N2AB | 13137 | 39634;39635;39636 | chr2:178629393;178629392;178629391 | chr2:179494120;179494119;179494118 |
| N2A | 12210 | 36853;36854;36855 | chr2:178629393;178629392;178629391 | chr2:179494120;179494119;179494118 |
| N2B | 5713 | 17362;17363;17364 | chr2:178629393;178629392;178629391 | chr2:179494120;179494119;179494118 |
| Novex-1 | 5838 | 17737;17738;17739 | chr2:178629393;178629392;178629391 | chr2:179494120;179494119;179494118 |
| Novex-2 | 5905 | 17938;17939;17940 | chr2:178629393;178629392;178629391 | chr2:179494120;179494119;179494118 |
| 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 | rs1342716683  |
-1.423 | 1.0 | D | 0.863 | 0.693 | 0.848431281886 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| G/E | rs1342716683 |
-1.423 | 1.0 | D | 0.863 | 0.693 | 0.848431281886 | 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 |
| G/E | rs1342716683 |
-1.423 | 1.0 | D | 0.863 | 0.693 | 0.848431281886 | gnomAD-4.0.0 | 1.02595E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.91648E-05 | 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 | 0.5268 | ambiguous | 0.5759 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.653641641 | None | None | N |
| G/C | 0.7427 | likely_pathogenic | 0.8088 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/D | 0.6302 | likely_pathogenic | 0.6925 | pathogenic | -0.799 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/E | 0.6521 | likely_pathogenic | 0.6959 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.630611913 | None | None | N |
| G/F | 0.9358 | likely_pathogenic | 0.9442 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| G/H | 0.8197 | likely_pathogenic | 0.8297 | pathogenic | -0.728 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| G/I | 0.9518 | likely_pathogenic | 0.9705 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/K | 0.7353 | likely_pathogenic | 0.7868 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/L | 0.8767 | likely_pathogenic | 0.8966 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| G/M | 0.8971 | likely_pathogenic | 0.9207 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| G/N | 0.6384 | likely_pathogenic | 0.6702 | pathogenic | -0.519 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/P | 0.9943 | likely_pathogenic | 0.9958 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| G/Q | 0.7132 | likely_pathogenic | 0.7302 | pathogenic | -0.857 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| G/R | 0.6174 | likely_pathogenic | 0.6653 | pathogenic | -0.418 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.640194465 | None | None | N |
| G/S | 0.3467 | ambiguous | 0.3784 | ambiguous | -0.658 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/T | 0.6189 | likely_pathogenic | 0.6967 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/V | 0.8839 | likely_pathogenic | 0.9243 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.757019573 | None | None | N |
| G/W | 0.8513 | likely_pathogenic | 0.876 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.756781752 | None | None | N |
| G/Y | 0.8821 | likely_pathogenic | 0.9045 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.862 | 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.