Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1641 | 5146;5147;5148 | chr2:178776943;178776942;178776941 | chr2:179641670;179641669;179641668 |
| N2AB | 1641 | 5146;5147;5148 | chr2:178776943;178776942;178776941 | chr2:179641670;179641669;179641668 |
| N2A | 1641 | 5146;5147;5148 | chr2:178776943;178776942;178776941 | chr2:179641670;179641669;179641668 |
| N2B | 1595 | 5008;5009;5010 | chr2:178776943;178776942;178776941 | chr2:179641670;179641669;179641668 |
| Novex-1 | 1595 | 5008;5009;5010 | chr2:178776943;178776942;178776941 | chr2:179641670;179641669;179641668 |
| Novex-2 | 1595 | 5008;5009;5010 | chr2:178776943;178776942;178776941 | chr2:179641670;179641669;179641668 |
| Novex-3 | 1641 | 5146;5147;5148 | chr2:178776943;178776942;178776941 | chr2:179641670;179641669;179641668 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs775394529  |
0.076 | 1.0 | N | 0.885 | 0.673 | 0.48896698758 | gnomAD-2.1.1 | 7.99E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.84E-06 | 0 |
| T/I | rs775394529 |
0.076 | 1.0 | N | 0.885 | 0.673 | 0.48896698758 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs775394529 |
0.076 | 1.0 | N | 0.885 | 0.673 | 0.48896698758 | gnomAD-4.0.0 | 7.43667E-06 | None | None | None | None | N | None | 0 | 1.66845E-05 | None | 0 | 0 | None | 0 | 0 | 9.32263E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2638 | likely_benign | 0.2475 | benign | -1.153 | Destabilizing | 0.999 | D | 0.591 | neutral | N | 0.496226695 | None | None | N |
| T/C | 0.8135 | likely_pathogenic | 0.7954 | pathogenic | -0.691 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| T/D | 0.9793 | likely_pathogenic | 0.9766 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| T/E | 0.9752 | likely_pathogenic | 0.9716 | pathogenic | -0.714 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| T/F | 0.9494 | likely_pathogenic | 0.938 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| T/G | 0.7637 | likely_pathogenic | 0.7391 | pathogenic | -1.545 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| T/H | 0.957 | likely_pathogenic | 0.9479 | pathogenic | -1.649 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| T/I | 0.8338 | likely_pathogenic | 0.798 | pathogenic | -0.146 | Destabilizing | 1.0 | D | 0.885 | deleterious | N | 0.50352948 | None | None | N |
| T/K | 0.9765 | likely_pathogenic | 0.9733 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.522913741 | None | None | N |
| T/L | 0.6552 | likely_pathogenic | 0.5922 | pathogenic | -0.146 | Destabilizing | 0.999 | D | 0.735 | prob.delet. | None | None | None | None | N |
| T/M | 0.4515 | ambiguous | 0.398 | ambiguous | 0.019 | Stabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| T/N | 0.7959 | likely_pathogenic | 0.7477 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| T/P | 0.974 | likely_pathogenic | 0.9702 | pathogenic | -0.449 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.667733888 | None | None | N |
| T/Q | 0.9326 | likely_pathogenic | 0.9231 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| T/R | 0.958 | likely_pathogenic | 0.9535 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.894 | deleterious | N | 0.511413645 | None | None | N |
| T/S | 0.3301 | likely_benign | 0.2818 | benign | -1.387 | Destabilizing | 0.999 | D | 0.575 | neutral | N | 0.489479334 | None | None | N |
| T/V | 0.5751 | likely_pathogenic | 0.5361 | ambiguous | -0.449 | Destabilizing | 0.999 | D | 0.602 | neutral | None | None | None | None | N |
| T/W | 0.9924 | likely_pathogenic | 0.9907 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| T/Y | 0.9737 | likely_pathogenic | 0.9684 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.904 | 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.