Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22445 | 67558;67559;67560 | chr2:178579954;178579953;178579952 | chr2:179444681;179444680;179444679 |
| N2AB | 20804 | 62635;62636;62637 | chr2:178579954;178579953;178579952 | chr2:179444681;179444680;179444679 |
| N2A | 19877 | 59854;59855;59856 | chr2:178579954;178579953;178579952 | chr2:179444681;179444680;179444679 |
| N2B | 13380 | 40363;40364;40365 | chr2:178579954;178579953;178579952 | chr2:179444681;179444680;179444679 |
| Novex-1 | 13505 | 40738;40739;40740 | chr2:178579954;178579953;178579952 | chr2:179444681;179444680;179444679 |
| Novex-2 | 13572 | 40939;40940;40941 | chr2:178579954;178579953;178579952 | chr2:179444681;179444680;179444679 |
| 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/T | None | None | 0.851 | N | 0.545 | 0.221 | 0.330331372229 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| A/V | rs1375354094  |
-0.29 | 0.958 | N | 0.591 | 0.199 | 0.382761230579 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/V | rs1375354094 |
-0.29 | 0.958 | N | 0.591 | 0.199 | 0.382761230579 | gnomAD-4.0.0 | 1.59286E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43361E-05 | 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 | 0.567 | likely_pathogenic | 0.4911 | ambiguous | -0.682 | Destabilizing | 0.999 | D | 0.593 | neutral | None | None | None | None | N |
| A/D | 0.7987 | likely_pathogenic | 0.7592 | pathogenic | -0.1 | Destabilizing | 0.976 | D | 0.799 | deleterious | N | 0.504499421 | None | None | N |
| A/E | 0.6667 | likely_pathogenic | 0.5852 | pathogenic | -0.197 | Destabilizing | 0.938 | D | 0.722 | deleterious | None | None | None | None | N |
| A/F | 0.723 | likely_pathogenic | 0.6757 | pathogenic | -0.723 | Destabilizing | 0.997 | D | 0.851 | deleterious | None | None | None | None | N |
| A/G | 0.2404 | likely_benign | 0.1973 | benign | -0.548 | Destabilizing | 0.824 | D | 0.501 | neutral | D | 0.522153825 | None | None | N |
| A/H | 0.8128 | likely_pathogenic | 0.7661 | pathogenic | -0.595 | Destabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | N |
| A/I | 0.5338 | ambiguous | 0.4868 | ambiguous | -0.158 | Destabilizing | 0.991 | D | 0.719 | prob.delet. | None | None | None | None | N |
| A/K | 0.8555 | likely_pathogenic | 0.8069 | pathogenic | -0.648 | Destabilizing | 0.938 | D | 0.722 | deleterious | None | None | None | None | N |
| A/L | 0.5094 | ambiguous | 0.4644 | ambiguous | -0.158 | Destabilizing | 0.968 | D | 0.716 | prob.delet. | None | None | None | None | N |
| A/M | 0.5221 | ambiguous | 0.4693 | ambiguous | -0.246 | Destabilizing | 0.999 | D | 0.71 | prob.delet. | None | None | None | None | N |
| A/N | 0.6333 | likely_pathogenic | 0.5767 | pathogenic | -0.325 | Destabilizing | 0.981 | D | 0.753 | deleterious | None | None | None | None | N |
| A/P | 0.1556 | likely_benign | 0.1298 | benign | -0.197 | Destabilizing | 0.034 | N | 0.449 | neutral | N | 0.416026438 | None | None | N |
| A/Q | 0.6918 | likely_pathogenic | 0.6227 | pathogenic | -0.503 | Destabilizing | 0.991 | D | 0.71 | prob.delet. | None | None | None | None | N |
| A/R | 0.7732 | likely_pathogenic | 0.7281 | pathogenic | -0.315 | Destabilizing | 0.991 | D | 0.708 | prob.delet. | None | None | None | None | N |
| A/S | 0.1429 | likely_benign | 0.1328 | benign | -0.673 | Destabilizing | 0.157 | N | 0.338 | neutral | N | 0.452408525 | None | None | N |
| A/T | 0.2275 | likely_benign | 0.2116 | benign | -0.667 | Destabilizing | 0.851 | D | 0.545 | neutral | N | 0.470542183 | None | None | N |
| A/V | 0.2805 | likely_benign | 0.261 | benign | -0.197 | Destabilizing | 0.958 | D | 0.591 | neutral | N | 0.514646276 | None | None | N |
| A/W | 0.9369 | likely_pathogenic | 0.915 | pathogenic | -0.948 | Destabilizing | 0.999 | D | 0.815 | deleterious | None | None | None | None | N |
| A/Y | 0.8072 | likely_pathogenic | 0.7528 | pathogenic | -0.554 | Destabilizing | 0.997 | D | 0.848 | 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.