Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31237 | 93934;93935;93936 | chr2:178547917;178547916;178547915 | chr2:179412644;179412643;179412642 |
| N2AB | 29596 | 89011;89012;89013 | chr2:178547917;178547916;178547915 | chr2:179412644;179412643;179412642 |
| N2A | 28669 | 86230;86231;86232 | chr2:178547917;178547916;178547915 | chr2:179412644;179412643;179412642 |
| N2B | 22172 | 66739;66740;66741 | chr2:178547917;178547916;178547915 | chr2:179412644;179412643;179412642 |
| Novex-1 | 22297 | 67114;67115;67116 | chr2:178547917;178547916;178547915 | chr2:179412644;179412643;179412642 |
| Novex-2 | 22364 | 67315;67316;67317 | chr2:178547917;178547916;178547915 | chr2:179412644;179412643;179412642 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.09 | N | 0.689 | 0.253 | 0.444202592202 | gnomAD-4.0.0 | 1.59117E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88267E-05 | 0 | 0 | 0 | 0 |
| V/I | rs751307668  |
-0.46 | 0.004 | N | 0.276 | 0.042 | 0.146414634003 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 3.55E-05 | 0 |
| V/I | rs751307668 |
-0.46 | 0.004 | N | 0.276 | 0.042 | 0.146414634003 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| V/I | rs751307668 |
-0.46 | 0.004 | N | 0.276 | 0.042 | 0.146414634003 | gnomAD-4.0.0 | 2.04505E-05 | None | None | None | None | N | None | 2.6708E-05 | 1.66778E-05 | None | 0 | 0 | None | 1.5625E-05 | 0 | 2.11896E-05 | 3.29352E-05 | 1.60113E-05 |
| V/L | rs751307668 |
-0.462 | 0.036 | N | 0.554 | 0.046 | 0.302459207581 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs751307668 |
-0.462 | 0.036 | N | 0.554 | 0.046 | 0.302459207581 | gnomAD-4.0.0 | 6.84194E-07 | None | None | None | None | N | None | 0 | 2.23654E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.708 | likely_pathogenic | 0.7022 | pathogenic | -1.542 | Destabilizing | 0.09 | N | 0.689 | prob.neutral | N | 0.421981257 | None | None | N |
| V/C | 0.8893 | likely_pathogenic | 0.8675 | pathogenic | -1.137 | Destabilizing | 0.981 | D | 0.817 | deleterious | None | None | None | None | N |
| V/D | 0.9894 | likely_pathogenic | 0.99 | pathogenic | -1.271 | Destabilizing | 0.69 | D | 0.861 | deleterious | None | None | None | None | N |
| V/E | 0.9783 | likely_pathogenic | 0.9779 | pathogenic | -1.193 | Destabilizing | 0.193 | N | 0.829 | deleterious | N | 0.478497311 | None | None | N |
| V/F | 0.474 | ambiguous | 0.4263 | ambiguous | -1.033 | Destabilizing | 0.69 | D | 0.817 | deleterious | None | None | None | None | N |
| V/G | 0.865 | likely_pathogenic | 0.879 | pathogenic | -1.938 | Destabilizing | 0.627 | D | 0.857 | deleterious | N | 0.493729499 | None | None | N |
| V/H | 0.9866 | likely_pathogenic | 0.9862 | pathogenic | -1.364 | Destabilizing | 0.944 | D | 0.893 | deleterious | None | None | None | None | N |
| V/I | 0.0711 | likely_benign | 0.0648 | benign | -0.523 | Destabilizing | 0.004 | N | 0.276 | neutral | N | 0.415402001 | None | None | N |
| V/K | 0.9802 | likely_pathogenic | 0.9792 | pathogenic | -1.266 | Destabilizing | 0.527 | D | 0.841 | deleterious | None | None | None | None | N |
| V/L | 0.314 | likely_benign | 0.2594 | benign | -0.523 | Destabilizing | 0.036 | N | 0.554 | neutral | N | 0.511448468 | None | None | N |
| V/M | 0.3638 | ambiguous | 0.3193 | benign | -0.476 | Destabilizing | 0.69 | D | 0.691 | prob.neutral | None | None | None | None | N |
| V/N | 0.9669 | likely_pathogenic | 0.9634 | pathogenic | -1.255 | Destabilizing | 0.69 | D | 0.879 | deleterious | None | None | None | None | N |
| V/P | 0.983 | likely_pathogenic | 0.9829 | pathogenic | -0.828 | Destabilizing | 0.818 | D | 0.859 | deleterious | None | None | None | None | N |
| V/Q | 0.9689 | likely_pathogenic | 0.9694 | pathogenic | -1.289 | Destabilizing | 0.019 | N | 0.722 | prob.delet. | None | None | None | None | N |
| V/R | 0.9639 | likely_pathogenic | 0.9641 | pathogenic | -0.849 | Destabilizing | 0.527 | D | 0.879 | deleterious | None | None | None | None | N |
| V/S | 0.8895 | likely_pathogenic | 0.8884 | pathogenic | -1.869 | Destabilizing | 0.241 | N | 0.837 | deleterious | None | None | None | None | N |
| V/T | 0.7957 | likely_pathogenic | 0.798 | pathogenic | -1.652 | Destabilizing | 0.388 | N | 0.7 | prob.neutral | None | None | None | None | N |
| V/W | 0.9806 | likely_pathogenic | 0.9779 | pathogenic | -1.28 | Destabilizing | 0.981 | D | 0.885 | deleterious | None | None | None | None | N |
| V/Y | 0.9293 | likely_pathogenic | 0.9177 | pathogenic | -0.947 | Destabilizing | 0.818 | D | 0.818 | 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.