Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27049 | 81370;81371;81372 | chr2:178564987;178564986;178564985 | chr2:179429714;179429713;179429712 |
| N2AB | 25408 | 76447;76448;76449 | chr2:178564987;178564986;178564985 | chr2:179429714;179429713;179429712 |
| N2A | 24481 | 73666;73667;73668 | chr2:178564987;178564986;178564985 | chr2:179429714;179429713;179429712 |
| N2B | 17984 | 54175;54176;54177 | chr2:178564987;178564986;178564985 | chr2:179429714;179429713;179429712 |
| Novex-1 | 18109 | 54550;54551;54552 | chr2:178564987;178564986;178564985 | chr2:179429714;179429713;179429712 |
| Novex-2 | 18176 | 54751;54752;54753 | chr2:178564987;178564986;178564985 | chr2:179429714;179429713;179429712 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs750982234  |
-1.658 | 1.0 | D | 0.867 | 0.769 | 0.673800983336 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8531 | likely_pathogenic | 0.8198 | pathogenic | -1.932 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| A/D | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -2.869 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.572890058 | None | None | N |
| A/E | 0.9973 | likely_pathogenic | 0.9977 | pathogenic | -2.629 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/F | 0.9964 | likely_pathogenic | 0.9965 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| A/G | 0.5459 | ambiguous | 0.5073 | ambiguous | -2.626 | Highly Destabilizing | 1.0 | D | 0.61 | neutral | D | 0.54216205 | None | None | N |
| A/H | 0.9982 | likely_pathogenic | 0.9981 | pathogenic | -2.254 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| A/I | 0.9873 | likely_pathogenic | 0.9829 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/K | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.611 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| A/L | 0.9536 | likely_pathogenic | 0.954 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| A/M | 0.9815 | likely_pathogenic | 0.9751 | pathogenic | -1.496 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/N | 0.9963 | likely_pathogenic | 0.9953 | pathogenic | -2.082 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/P | 0.9848 | likely_pathogenic | 0.9832 | pathogenic | -1.384 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.572890058 | None | None | N |
| A/Q | 0.9928 | likely_pathogenic | 0.9934 | pathogenic | -1.787 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| A/R | 0.9962 | likely_pathogenic | 0.9972 | pathogenic | -1.666 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/S | 0.3059 | likely_benign | 0.2403 | benign | -2.457 | Highly Destabilizing | 1.0 | D | 0.601 | neutral | N | 0.516598602 | None | None | N |
| A/T | 0.8299 | likely_pathogenic | 0.7725 | pathogenic | -2.11 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.55747792 | None | None | N |
| A/V | 0.9198 | likely_pathogenic | 0.8974 | pathogenic | -1.384 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.552504397 | None | None | N |
| A/W | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.4 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/Y | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.891 | 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.