Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28350 | 85273;85274;85275 | chr2:178561084;178561083;178561082 | chr2:179425811;179425810;179425809 |
| N2AB | 26709 | 80350;80351;80352 | chr2:178561084;178561083;178561082 | chr2:179425811;179425810;179425809 |
| N2A | 25782 | 77569;77570;77571 | chr2:178561084;178561083;178561082 | chr2:179425811;179425810;179425809 |
| N2B | 19285 | 58078;58079;58080 | chr2:178561084;178561083;178561082 | chr2:179425811;179425810;179425809 |
| Novex-1 | 19410 | 58453;58454;58455 | chr2:178561084;178561083;178561082 | chr2:179425811;179425810;179425809 |
| Novex-2 | 19477 | 58654;58655;58656 | chr2:178561084;178561083;178561082 | chr2:179425811;179425810;179425809 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs1337835797  |
0.455 | 1.0 | N | 0.783 | 0.311 | 0.415947407303 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs1337835797 |
0.455 | 1.0 | N | 0.783 | 0.311 | 0.415947407303 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/N | rs1337835797 |
0.455 | 1.0 | N | 0.783 | 0.311 | 0.415947407303 | gnomAD-4.0.0 | 6.57168E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47016E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8948 | likely_pathogenic | 0.8415 | pathogenic | -0.223 | Destabilizing | 1.0 | D | 0.749 | deleterious | N | 0.490385336 | None | None | N |
| D/C | 0.9925 | likely_pathogenic | 0.9881 | pathogenic | 0.093 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| D/E | 0.8408 | likely_pathogenic | 0.7906 | pathogenic | -0.354 | Destabilizing | 0.999 | D | 0.511 | neutral | N | 0.502314484 | None | None | N |
| D/F | 0.9927 | likely_pathogenic | 0.9879 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| D/G | 0.8865 | likely_pathogenic | 0.8223 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.467767025 | None | None | N |
| D/H | 0.972 | likely_pathogenic | 0.9565 | pathogenic | -0.222 | Destabilizing | 1.0 | D | 0.885 | deleterious | N | 0.462994085 | None | None | N |
| D/I | 0.9883 | likely_pathogenic | 0.9753 | pathogenic | 0.211 | Stabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| D/K | 0.9858 | likely_pathogenic | 0.9733 | pathogenic | 0.252 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| D/L | 0.9759 | likely_pathogenic | 0.9611 | pathogenic | 0.211 | Stabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| D/M | 0.9911 | likely_pathogenic | 0.9842 | pathogenic | 0.364 | Stabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| D/N | 0.6846 | likely_pathogenic | 0.6368 | pathogenic | 0.085 | Stabilizing | 1.0 | D | 0.783 | deleterious | N | 0.468020514 | None | None | N |
| D/P | 0.9904 | likely_pathogenic | 0.9849 | pathogenic | 0.089 | Stabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| D/Q | 0.9785 | likely_pathogenic | 0.9636 | pathogenic | 0.09 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| D/R | 0.9876 | likely_pathogenic | 0.977 | pathogenic | 0.373 | Stabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| D/S | 0.837 | likely_pathogenic | 0.7818 | pathogenic | -0.041 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| D/T | 0.9613 | likely_pathogenic | 0.928 | pathogenic | 0.093 | Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| D/V | 0.9606 | likely_pathogenic | 0.921 | pathogenic | 0.089 | Stabilizing | 1.0 | D | 0.803 | deleterious | N | 0.495960138 | None | None | N |
| D/W | 0.9974 | likely_pathogenic | 0.9955 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| D/Y | 0.9257 | likely_pathogenic | 0.8853 | pathogenic | -0.091 | Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.497227585 | 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.