Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18631 | 56116;56117;56118 | chr2:178601013;178601012;178601011 | chr2:179465740;179465739;179465738 |
| N2AB | 16990 | 51193;51194;51195 | chr2:178601013;178601012;178601011 | chr2:179465740;179465739;179465738 |
| N2A | 16063 | 48412;48413;48414 | chr2:178601013;178601012;178601011 | chr2:179465740;179465739;179465738 |
| N2B | 9566 | 28921;28922;28923 | chr2:178601013;178601012;178601011 | chr2:179465740;179465739;179465738 |
| Novex-1 | 9691 | 29296;29297;29298 | chr2:178601013;178601012;178601011 | chr2:179465740;179465739;179465738 |
| Novex-2 | 9758 | 29497;29498;29499 | chr2:178601013;178601012;178601011 | chr2:179465740;179465739;179465738 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | 1.0 | D | 0.693 | 0.666 | 0.789738923016 | gnomAD-4.0.0 | 1.59261E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86105E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9898 | likely_pathogenic | 0.9905 | pathogenic | -2.916 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| W/C | 0.9962 | likely_pathogenic | 0.9961 | pathogenic | -1.158 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.544181106 | None | None | N |
| W/D | 0.9978 | likely_pathogenic | 0.9983 | pathogenic | -1.742 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| W/E | 0.9973 | likely_pathogenic | 0.9979 | pathogenic | -1.685 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| W/F | 0.6384 | likely_pathogenic | 0.6608 | pathogenic | -1.881 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| W/G | 0.9708 | likely_pathogenic | 0.9723 | pathogenic | -3.111 | Highly Destabilizing | 1.0 | D | 0.671 | neutral | D | 0.531810843 | None | None | N |
| W/H | 0.9919 | likely_pathogenic | 0.9926 | pathogenic | -1.491 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| W/I | 0.9871 | likely_pathogenic | 0.9872 | pathogenic | -2.214 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| W/K | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -1.491 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| W/L | 0.9633 | likely_pathogenic | 0.9605 | pathogenic | -2.214 | Highly Destabilizing | 1.0 | D | 0.671 | neutral | N | 0.515908633 | None | None | N |
| W/M | 0.9892 | likely_pathogenic | 0.9901 | pathogenic | -1.586 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| W/N | 0.9968 | likely_pathogenic | 0.9974 | pathogenic | -1.809 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| W/P | 0.9878 | likely_pathogenic | 0.9885 | pathogenic | -2.464 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| W/Q | 0.9982 | likely_pathogenic | 0.9982 | pathogenic | -1.839 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| W/R | 0.9968 | likely_pathogenic | 0.9971 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.758 | deleterious | D | 0.532317822 | None | None | N |
| W/S | 0.9838 | likely_pathogenic | 0.9848 | pathogenic | -2.208 | Highly Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.52370654 | None | None | N |
| W/T | 0.9916 | likely_pathogenic | 0.9927 | pathogenic | -2.101 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| W/V | 0.9848 | likely_pathogenic | 0.9839 | pathogenic | -2.464 | Highly Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| W/Y | 0.8796 | likely_pathogenic | 0.9044 | pathogenic | -1.749 | Destabilizing | 1.0 | D | 0.595 | neutral | 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.