Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15851 | 47776;47777;47778 | chr2:178617800;178617799;178617798 | chr2:179482527;179482526;179482525 |
| N2AB | 14210 | 42853;42854;42855 | chr2:178617800;178617799;178617798 | chr2:179482527;179482526;179482525 |
| N2A | 13283 | 40072;40073;40074 | chr2:178617800;178617799;178617798 | chr2:179482527;179482526;179482525 |
| N2B | 6786 | 20581;20582;20583 | chr2:178617800;178617799;178617798 | chr2:179482527;179482526;179482525 |
| Novex-1 | 6911 | 20956;20957;20958 | chr2:178617800;178617799;178617798 | chr2:179482527;179482526;179482525 |
| Novex-2 | 6978 | 21157;21158;21159 | chr2:178617800;178617799;178617798 | chr2:179482527;179482526;179482525 |
| 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/I | rs558671515  |
0.314 | 0.004 | N | 0.167 | 0.057 | None | gnomAD-2.1.1 | 2.51E-05 | None | None | None | None | N | None | 8.28E-05 | 2.84E-05 | None | 9.7E-05 | 0 | None | 3.27E-05 | None | 0 | 1.57E-05 | 0 |
| V/I | rs558671515 |
0.314 | 0.004 | N | 0.167 | 0.057 | None | gnomAD-3.1.2 | 1.98E-05 | None | None | None | None | N | None | 7.25E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs558671515 |
0.314 | 0.004 | N | 0.167 | 0.057 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/I | rs558671515 |
0.314 | 0.004 | N | 0.167 | 0.057 | None | gnomAD-4.0.0 | 2.79109E-05 | None | None | None | None | N | None | 1.06832E-04 | 1.6695E-05 | None | 3.38524E-05 | 0 | None | 0 | 0 | 2.88397E-05 | 1.09885E-05 | 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 | 0.3323 | likely_benign | 0.3028 | benign | -1.414 | Destabilizing | 0.189 | N | 0.459 | neutral | D | 0.578534696 | None | None | N |
| V/C | 0.7022 | likely_pathogenic | 0.6331 | pathogenic | -0.887 | Destabilizing | 0.962 | D | 0.795 | deleterious | None | None | None | None | N |
| V/D | 0.8033 | likely_pathogenic | 0.7856 | pathogenic | -1.361 | Destabilizing | 0.623 | D | 0.898 | deleterious | D | 0.620471461 | None | None | N |
| V/E | 0.5262 | ambiguous | 0.5074 | ambiguous | -1.176 | Destabilizing | 0.687 | D | 0.89 | deleterious | None | None | None | None | N |
| V/F | 0.241 | likely_benign | 0.1996 | benign | -0.738 | Destabilizing | 0.675 | D | 0.805 | deleterious | D | 0.618773695 | None | None | N |
| V/G | 0.4846 | ambiguous | 0.4509 | ambiguous | -1.899 | Destabilizing | 0.623 | D | 0.911 | deleterious | D | 0.620471461 | None | None | N |
| V/H | 0.7191 | likely_pathogenic | 0.6446 | pathogenic | -1.455 | Destabilizing | 0.962 | D | 0.871 | deleterious | None | None | None | None | N |
| V/I | 0.0868 | likely_benign | 0.0797 | benign | -0.099 | Destabilizing | 0.004 | N | 0.167 | neutral | N | 0.457847765 | None | None | N |
| V/K | 0.541 | ambiguous | 0.4818 | ambiguous | -1.099 | Destabilizing | 0.687 | D | 0.893 | deleterious | None | None | None | None | N |
| V/L | 0.2309 | likely_benign | 0.1882 | benign | -0.099 | Destabilizing | 0.04 | N | 0.412 | neutral | N | 0.501013688 | None | None | N |
| V/M | 0.1921 | likely_benign | 0.1797 | benign | -0.133 | Destabilizing | 0.519 | D | 0.663 | prob.neutral | None | None | None | None | N |
| V/N | 0.6551 | likely_pathogenic | 0.5979 | pathogenic | -1.342 | Destabilizing | 0.87 | D | 0.881 | deleterious | None | None | None | None | N |
| V/P | 0.9594 | likely_pathogenic | 0.9289 | pathogenic | -0.506 | Destabilizing | 0.87 | D | 0.887 | deleterious | None | None | None | None | N |
| V/Q | 0.4347 | ambiguous | 0.3938 | ambiguous | -1.196 | Destabilizing | 0.87 | D | 0.874 | deleterious | None | None | None | None | N |
| V/R | 0.4748 | ambiguous | 0.3954 | ambiguous | -0.966 | Destabilizing | 0.687 | D | 0.881 | deleterious | None | None | None | None | N |
| V/S | 0.4685 | ambiguous | 0.4135 | ambiguous | -1.991 | Destabilizing | 0.687 | D | 0.881 | deleterious | None | None | None | None | N |
| V/T | 0.2604 | likely_benign | 0.2414 | benign | -1.654 | Destabilizing | 0.236 | N | 0.58 | neutral | None | None | None | None | N |
| V/W | 0.8787 | likely_pathogenic | 0.826 | pathogenic | -1.151 | Destabilizing | 0.962 | D | 0.834 | deleterious | None | None | None | None | N |
| V/Y | 0.6559 | likely_pathogenic | 0.5686 | pathogenic | -0.716 | Destabilizing | 0.687 | D | 0.799 | 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.