Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9769 | 29530;29531;29532 | chr2:178706569;178706568;178706567 | chr2:179571296;179571295;179571294 |
| N2AB | 9452 | 28579;28580;28581 | chr2:178706569;178706568;178706567 | chr2:179571296;179571295;179571294 |
| N2A | 8525 | 25798;25799;25800 | chr2:178706569;178706568;178706567 | chr2:179571296;179571295;179571294 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | rs778087108  |
-2.377 | 1.0 | None | 0.799 | 0.68 | 0.704435457997 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 1.23977E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/H | rs778087108 |
-2.377 | 1.0 | None | 0.799 | 0.68 | 0.704435457997 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | rs778087108 |
-2.377 | 1.0 | None | 0.799 | 0.68 | 0.704435457997 | gnomAD-4.0.0 | 3.09822E-06 | None | None | None | None | N | None | 4.00449E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69509E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9987 | likely_pathogenic | 0.997 | pathogenic | -1.983 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| Y/C | 0.9775 | likely_pathogenic | 0.9461 | pathogenic | -1.299 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| Y/D | 0.9991 | likely_pathogenic | 0.9982 | pathogenic | -2.447 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| Y/E | 0.9995 | likely_pathogenic | 0.999 | pathogenic | -2.191 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| Y/F | 0.3655 | ambiguous | 0.265 | benign | -0.586 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | N |
| Y/G | 0.9952 | likely_pathogenic | 0.9912 | pathogenic | -2.441 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| Y/H | 0.9923 | likely_pathogenic | 0.9893 | pathogenic | -1.898 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| Y/I | 0.9382 | likely_pathogenic | 0.9128 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| Y/K | 0.9994 | likely_pathogenic | 0.9989 | pathogenic | -1.543 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| Y/L | 0.8647 | likely_pathogenic | 0.8049 | pathogenic | -0.477 | Destabilizing | 0.999 | D | 0.756 | deleterious | None | None | None | None | N |
| Y/M | 0.9898 | likely_pathogenic | 0.9796 | pathogenic | -0.568 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| Y/N | 0.9944 | likely_pathogenic | 0.9899 | pathogenic | -2.436 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| Y/P | 0.9986 | likely_pathogenic | 0.9976 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| Y/Q | 0.9994 | likely_pathogenic | 0.9985 | pathogenic | -1.949 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| Y/R | 0.997 | likely_pathogenic | 0.9949 | pathogenic | -1.926 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| Y/S | 0.9954 | likely_pathogenic | 0.99 | pathogenic | -2.776 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| Y/T | 0.9981 | likely_pathogenic | 0.9963 | pathogenic | -2.368 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| Y/V | 0.9271 | likely_pathogenic | 0.894 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| Y/W | 0.9124 | likely_pathogenic | 0.8577 | pathogenic | 0.021 | Stabilizing | 1.0 | D | 0.789 | 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.