Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21066 | 63421;63422;63423 | chr2:178588211;178588210;178588209 | chr2:179452938;179452937;179452936 |
| N2AB | 19425 | 58498;58499;58500 | chr2:178588211;178588210;178588209 | chr2:179452938;179452937;179452936 |
| N2A | 18498 | 55717;55718;55719 | chr2:178588211;178588210;178588209 | chr2:179452938;179452937;179452936 |
| N2B | 12001 | 36226;36227;36228 | chr2:178588211;178588210;178588209 | chr2:179452938;179452937;179452936 |
| Novex-1 | 12126 | 36601;36602;36603 | chr2:178588211;178588210;178588209 | chr2:179452938;179452937;179452936 |
| Novex-2 | 12193 | 36802;36803;36804 | chr2:178588211;178588210;178588209 | chr2:179452938;179452937;179452936 |
| 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/C | None | None | 1.0 | N | 0.789 | 0.559 | 0.632648996995 | gnomAD-4.0.0 | 7.06061E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.20515E-07 | 0 | 0 |
| G/D | None | None | 1.0 | N | 0.867 | 0.315 | 0.17258766438 | gnomAD-4.0.0 | 1.71782E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.60031E-05 | 0 |
| G/S | None | None | 1.0 | N | 0.808 | 0.404 | 0.167679373172 | gnomAD-4.0.0 | 7.06061E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.20515E-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 | 0.44 | ambiguous | 0.4386 | ambiguous | -0.868 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | N | 0.466314404 | None | None | N |
| G/C | 0.7701 | likely_pathogenic | 0.7432 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.50455083 | None | None | N |
| G/D | 0.9407 | likely_pathogenic | 0.8796 | pathogenic | -2.049 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | N | 0.50115133 | None | None | N |
| G/E | 0.9325 | likely_pathogenic | 0.8942 | pathogenic | -2.029 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/F | 0.9298 | likely_pathogenic | 0.9355 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/H | 0.9658 | likely_pathogenic | 0.9554 | pathogenic | -1.569 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/I | 0.9195 | likely_pathogenic | 0.9177 | pathogenic | -0.274 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/K | 0.9843 | likely_pathogenic | 0.977 | pathogenic | -1.327 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| G/L | 0.8819 | likely_pathogenic | 0.8789 | pathogenic | -0.274 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/M | 0.9235 | likely_pathogenic | 0.9245 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| G/N | 0.9216 | likely_pathogenic | 0.8721 | pathogenic | -1.211 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/P | 0.9936 | likely_pathogenic | 0.9909 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/Q | 0.9389 | likely_pathogenic | 0.9228 | pathogenic | -1.321 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| G/R | 0.964 | likely_pathogenic | 0.9539 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.865 | deleterious | N | 0.485432617 | None | None | N |
| G/S | 0.3254 | likely_benign | 0.2648 | benign | -1.441 | Destabilizing | 1.0 | D | 0.808 | deleterious | N | 0.50057254 | None | None | N |
| G/T | 0.8 | likely_pathogenic | 0.7512 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/V | 0.8768 | likely_pathogenic | 0.8763 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.856 | deleterious | N | 0.504043851 | None | None | N |
| G/W | 0.9277 | likely_pathogenic | 0.9345 | pathogenic | -1.445 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/Y | 0.9244 | likely_pathogenic | 0.9246 | pathogenic | -0.996 | Destabilizing | 1.0 | D | 0.839 | 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.