Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21342 | 64249;64250;64251 | chr2:178587187;178587186;178587185 | chr2:179451914;179451913;179451912 |
| N2AB | 19701 | 59326;59327;59328 | chr2:178587187;178587186;178587185 | chr2:179451914;179451913;179451912 |
| N2A | 18774 | 56545;56546;56547 | chr2:178587187;178587186;178587185 | chr2:179451914;179451913;179451912 |
| N2B | 12277 | 37054;37055;37056 | chr2:178587187;178587186;178587185 | chr2:179451914;179451913;179451912 |
| Novex-1 | 12402 | 37429;37430;37431 | chr2:178587187;178587186;178587185 | chr2:179451914;179451913;179451912 |
| Novex-2 | 12469 | 37630;37631;37632 | chr2:178587187;178587186;178587185 | chr2:179451914;179451913;179451912 |
| 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/G | rs1218513536  |
-2.298 | 1.0 | N | 0.625 | 0.636 | 0.64471023102 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| A/G | rs1218513536 |
-2.298 | 1.0 | N | 0.625 | 0.636 | 0.64471023102 | gnomAD-4.0.0 | 1.4372E-05 | None | None | None | None | N | None | 0 | 6.70991E-05 | None | 0 | 0 | None | 0 | 0 | 1.61944E-05 | 0 | 0 |
| A/V | None | None | 1.0 | D | 0.714 | 0.659 | 0.68083381961 | gnomAD-4.0.0 | 6.84383E-07 | None | None | None | None | N | None | 0 | 2.23664E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9269 | likely_pathogenic | 0.9199 | pathogenic | -1.719 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| A/D | 0.9989 | likely_pathogenic | 0.9984 | pathogenic | -2.557 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.566306692 | None | None | N |
| A/E | 0.9986 | likely_pathogenic | 0.9981 | pathogenic | -2.348 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/F | 0.9967 | likely_pathogenic | 0.9964 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/G | 0.2558 | likely_benign | 0.2318 | benign | -2.022 | Highly Destabilizing | 1.0 | D | 0.625 | neutral | N | 0.518461934 | None | None | N |
| A/H | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.811 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/I | 0.9903 | likely_pathogenic | 0.9875 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/K | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.267 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/L | 0.9698 | likely_pathogenic | 0.9619 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/M | 0.9843 | likely_pathogenic | 0.9816 | pathogenic | -1.187 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/N | 0.9963 | likely_pathogenic | 0.9951 | pathogenic | -1.729 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/P | 0.8163 | likely_pathogenic | 0.7589 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.526806499 | None | None | N |
| A/Q | 0.9966 | likely_pathogenic | 0.9958 | pathogenic | -1.428 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| A/R | 0.9981 | likely_pathogenic | 0.9976 | pathogenic | -1.409 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/S | 0.4551 | ambiguous | 0.4393 | ambiguous | -2.023 | Highly Destabilizing | 1.0 | D | 0.616 | neutral | N | 0.508204811 | None | None | N |
| A/T | 0.9155 | likely_pathogenic | 0.8828 | pathogenic | -1.718 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.544146605 | None | None | N |
| A/V | 0.9365 | likely_pathogenic | 0.9165 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | D | 0.537527241 | None | None | N |
| A/W | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/Y | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.879 | 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.