Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17774 | 53545;53546;53547 | chr2:178607282;178607281;178607280 | chr2:179472009;179472008;179472007 |
| N2AB | 16133 | 48622;48623;48624 | chr2:178607282;178607281;178607280 | chr2:179472009;179472008;179472007 |
| N2A | 15206 | 45841;45842;45843 | chr2:178607282;178607281;178607280 | chr2:179472009;179472008;179472007 |
| N2B | 8709 | 26350;26351;26352 | chr2:178607282;178607281;178607280 | chr2:179472009;179472008;179472007 |
| Novex-1 | 8834 | 26725;26726;26727 | chr2:178607282;178607281;178607280 | chr2:179472009;179472008;179472007 |
| Novex-2 | 8901 | 26926;26927;26928 | chr2:178607282;178607281;178607280 | chr2:179472009;179472008;179472007 |
| 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 | rs770511876  |
-0.903 | 0.999 | N | 0.572 | 0.275 | 0.433379234345 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| V/A | rs770511876 |
-0.903 | 0.999 | N | 0.572 | 0.275 | 0.433379234345 | gnomAD-4.0.0 | 1.59361E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86185E-06 | 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 | 0.4446 | ambiguous | 0.5207 | ambiguous | -0.799 | Destabilizing | 0.999 | D | 0.572 | neutral | N | 0.504778786 | None | None | N |
| V/C | 0.9085 | likely_pathogenic | 0.9386 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| V/D | 0.9086 | likely_pathogenic | 0.9524 | pathogenic | -0.631 | Destabilizing | 1.0 | D | 0.836 | deleterious | N | 0.497756813 | None | None | N |
| V/E | 0.791 | likely_pathogenic | 0.8709 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| V/F | 0.5403 | ambiguous | 0.6198 | pathogenic | -0.755 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.469883846 | None | None | N |
| V/G | 0.6769 | likely_pathogenic | 0.7595 | pathogenic | -0.995 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.49362043 | None | None | N |
| V/H | 0.9321 | likely_pathogenic | 0.9606 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| V/I | 0.1051 | likely_benign | 0.1206 | benign | -0.412 | Destabilizing | 0.997 | D | 0.47 | neutral | N | 0.504085352 | None | None | N |
| V/K | 0.8689 | likely_pathogenic | 0.9115 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| V/L | 0.4912 | ambiguous | 0.6006 | pathogenic | -0.412 | Destabilizing | 0.997 | D | 0.545 | neutral | N | 0.468009909 | None | None | N |
| V/M | 0.3308 | likely_benign | 0.4296 | ambiguous | -0.47 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| V/N | 0.7674 | likely_pathogenic | 0.8376 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| V/P | 0.9711 | likely_pathogenic | 0.9775 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| V/Q | 0.7552 | likely_pathogenic | 0.8268 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| V/R | 0.8334 | likely_pathogenic | 0.8756 | pathogenic | -0.229 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| V/S | 0.5869 | likely_pathogenic | 0.6801 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| V/T | 0.3749 | ambiguous | 0.4526 | ambiguous | -0.958 | Destabilizing | 0.999 | D | 0.639 | neutral | None | None | None | None | N |
| V/W | 0.9767 | likely_pathogenic | 0.9865 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| V/Y | 0.9084 | likely_pathogenic | 0.938 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.808 | 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.