Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24795 | 74608;74609;74610 | chr2:178571749;178571748;178571747 | chr2:179436476;179436475;179436474 |
| N2AB | 23154 | 69685;69686;69687 | chr2:178571749;178571748;178571747 | chr2:179436476;179436475;179436474 |
| N2A | 22227 | 66904;66905;66906 | chr2:178571749;178571748;178571747 | chr2:179436476;179436475;179436474 |
| N2B | 15730 | 47413;47414;47415 | chr2:178571749;178571748;178571747 | chr2:179436476;179436475;179436474 |
| Novex-1 | 15855 | 47788;47789;47790 | chr2:178571749;178571748;178571747 | chr2:179436476;179436475;179436474 |
| Novex-2 | 15922 | 47989;47990;47991 | chr2:178571749;178571748;178571747 | chr2:179436476;179436475;179436474 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1708265483  |
None | 1.0 | D | 0.863 | 0.704 | 0.580737 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1708265483 |
None | 1.0 | D | 0.863 | 0.704 | 0.580737 | gnomAD-4.0.0 | 6.57661E-06 | None | None | None | None | I | None | 0 | 6.5505E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | None | None | 1.0 | D | 0.809 | 0.645 | 0.53800523 | gnomAD-4.0.0 | 1.59205E-06 | None | None | None | None | I | None | 5.65995E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6243 | likely_pathogenic | 0.5464 | ambiguous | -0.375 | Destabilizing | 1.0 | D | 0.752 | deleterious | D | 0.56577945 | None | None | I |
| G/C | 0.804 | likely_pathogenic | 0.7552 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.5897424 | None | None | I |
| G/D | 0.9016 | likely_pathogenic | 0.8846 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.5695548 | None | None | I |
| G/E | 0.9258 | likely_pathogenic | 0.8994 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/F | 0.9792 | likely_pathogenic | 0.9712 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/H | 0.9568 | likely_pathogenic | 0.9424 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/I | 0.9741 | likely_pathogenic | 0.9571 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/K | 0.9456 | likely_pathogenic | 0.9242 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/L | 0.9651 | likely_pathogenic | 0.9486 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/M | 0.9691 | likely_pathogenic | 0.9507 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/N | 0.9104 | likely_pathogenic | 0.8858 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/P | 0.9987 | likely_pathogenic | 0.9981 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
| G/Q | 0.9059 | likely_pathogenic | 0.8694 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | I |
| G/R | 0.8847 | likely_pathogenic | 0.8452 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.6235581 | None | None | I |
| G/S | 0.4827 | ambiguous | 0.4064 | ambiguous | -0.607 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.56935304 | None | None | I |
| G/T | 0.8493 | likely_pathogenic | 0.7868 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/V | 0.9315 | likely_pathogenic | 0.8933 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.60814416 | None | None | I |
| G/W | 0.9726 | likely_pathogenic | 0.9617 | pathogenic | -1.304 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/Y | 0.9695 | likely_pathogenic | 0.9573 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
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.