Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18977 | 57154;57155;57156 | chr2:178598781;178598780;178598779 | chr2:179463508;179463507;179463506 |
| N2AB | 17336 | 52231;52232;52233 | chr2:178598781;178598780;178598779 | chr2:179463508;179463507;179463506 |
| N2A | 16409 | 49450;49451;49452 | chr2:178598781;178598780;178598779 | chr2:179463508;179463507;179463506 |
| N2B | 9912 | 29959;29960;29961 | chr2:178598781;178598780;178598779 | chr2:179463508;179463507;179463506 |
| Novex-1 | 10037 | 30334;30335;30336 | chr2:178598781;178598780;178598779 | chr2:179463508;179463507;179463506 |
| Novex-2 | 10104 | 30535;30536;30537 | chr2:178598781;178598780;178598779 | chr2:179463508;179463507;179463506 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs750056302  |
-2.026 | 1.0 | N | 0.92 | 0.293 | 0.323886383625 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| P/S | rs750056302 |
-2.026 | 1.0 | N | 0.92 | 0.293 | 0.323886383625 | gnomAD-4.0.0 | 1.59221E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8601E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1246 | likely_benign | 0.1355 | benign | -1.743 | Destabilizing | 0.999 | D | 0.839 | deleterious | N | 0.504317426 | None | None | N |
| P/C | 0.7102 | likely_pathogenic | 0.7813 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/D | 0.9506 | likely_pathogenic | 0.9569 | pathogenic | -1.492 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/E | 0.7903 | likely_pathogenic | 0.8197 | pathogenic | -1.463 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| P/F | 0.8946 | likely_pathogenic | 0.9 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| P/G | 0.7801 | likely_pathogenic | 0.7819 | pathogenic | -2.097 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/H | 0.7864 | likely_pathogenic | 0.8003 | pathogenic | -1.565 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| P/I | 0.507 | ambiguous | 0.5694 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/K | 0.9307 | likely_pathogenic | 0.9416 | pathogenic | -1.325 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| P/L | 0.3776 | ambiguous | 0.4116 | ambiguous | -0.85 | Destabilizing | 1.0 | D | 0.866 | deleterious | N | 0.512590192 | None | None | N |
| P/M | 0.6791 | likely_pathogenic | 0.7095 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/N | 0.8767 | likely_pathogenic | 0.8925 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| P/Q | 0.6611 | likely_pathogenic | 0.6899 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.863 | deleterious | N | 0.501283417 | None | None | N |
| P/R | 0.8462 | likely_pathogenic | 0.8708 | pathogenic | -0.796 | Destabilizing | 1.0 | D | 0.913 | deleterious | N | 0.503992442 | None | None | N |
| P/S | 0.4013 | ambiguous | 0.4318 | ambiguous | -1.712 | Destabilizing | 1.0 | D | 0.92 | deleterious | N | 0.518940162 | None | None | N |
| P/T | 0.3449 | ambiguous | 0.3966 | ambiguous | -1.57 | Destabilizing | 1.0 | D | 0.915 | deleterious | N | 0.468238005 | None | None | N |
| P/V | 0.3335 | likely_benign | 0.4013 | ambiguous | -1.114 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/W | 0.968 | likely_pathogenic | 0.9707 | pathogenic | -1.516 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| P/Y | 0.9167 | likely_pathogenic | 0.9199 | pathogenic | -1.237 | Destabilizing | 1.0 | D | 0.915 | 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.