Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25206 | 75841;75842;75843 | chr2:178570516;178570515;178570514 | chr2:179435243;179435242;179435241 |
| N2AB | 23565 | 70918;70919;70920 | chr2:178570516;178570515;178570514 | chr2:179435243;179435242;179435241 |
| N2A | 22638 | 68137;68138;68139 | chr2:178570516;178570515;178570514 | chr2:179435243;179435242;179435241 |
| N2B | 16141 | 48646;48647;48648 | chr2:178570516;178570515;178570514 | chr2:179435243;179435242;179435241 |
| Novex-1 | 16266 | 49021;49022;49023 | chr2:178570516;178570515;178570514 | chr2:179435243;179435242;179435241 |
| Novex-2 | 16333 | 49222;49223;49224 | chr2:178570516;178570515;178570514 | chr2:179435243;179435242;179435241 |
| 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/R | rs373781969  |
-0.81 | 1.0 | N | 0.864 | 0.564 | 0.593343648767 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.57E-05 | 0 |
| G/R | rs373781969 |
-0.81 | 1.0 | N | 0.864 | 0.564 | 0.593343648767 | gnomAD-4.0.0 | 1.11467E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88388E-05 | 0 | 1.42983E-05 | 0 | 3.02645E-05 |
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 | 0.4526 | ambiguous | 0.5078 | ambiguous | -0.837 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.508867514 | None | None | N |
| G/C | 0.7059 | likely_pathogenic | 0.7898 | pathogenic | -1.221 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/D | 0.8947 | likely_pathogenic | 0.9199 | pathogenic | -2.529 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/E | 0.8869 | likely_pathogenic | 0.923 | pathogenic | -2.545 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | N | 0.516247347 | None | None | N |
| G/F | 0.9253 | likely_pathogenic | 0.9541 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/H | 0.9486 | likely_pathogenic | 0.9676 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| G/I | 0.8873 | likely_pathogenic | 0.9322 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/K | 0.9572 | likely_pathogenic | 0.9764 | pathogenic | -1.348 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/L | 0.8331 | likely_pathogenic | 0.8981 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/M | 0.9083 | likely_pathogenic | 0.9462 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| G/N | 0.8866 | likely_pathogenic | 0.9181 | pathogenic | -1.293 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| G/P | 0.9912 | likely_pathogenic | 0.9946 | pathogenic | -0.513 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/Q | 0.9104 | likely_pathogenic | 0.9408 | pathogenic | -1.497 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/R | 0.917 | likely_pathogenic | 0.9505 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.864 | deleterious | N | 0.503778633 | None | None | N |
| G/S | 0.3525 | ambiguous | 0.4041 | ambiguous | -1.39 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| G/T | 0.7513 | likely_pathogenic | 0.8201 | pathogenic | -1.355 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| G/V | 0.8275 | likely_pathogenic | 0.8866 | pathogenic | -0.513 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.536886497 | None | None | N |
| G/W | 0.9167 | likely_pathogenic | 0.944 | pathogenic | -1.533 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.537139987 | None | None | N |
| G/Y | 0.9215 | likely_pathogenic | 0.9507 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.861 | 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.