Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33479 | 100660;100661;100662 | chr2:178536312;178536311;178536310 | chr2:179401039;179401038;179401037 |
| N2AB | 31838 | 95737;95738;95739 | chr2:178536312;178536311;178536310 | chr2:179401039;179401038;179401037 |
| N2A | 30911 | 92956;92957;92958 | chr2:178536312;178536311;178536310 | chr2:179401039;179401038;179401037 |
| N2B | 24414 | 73465;73466;73467 | chr2:178536312;178536311;178536310 | chr2:179401039;179401038;179401037 |
| Novex-1 | 24539 | 73840;73841;73842 | chr2:178536312;178536311;178536310 | chr2:179401039;179401038;179401037 |
| Novex-2 | 24606 | 74041;74042;74043 | chr2:178536312;178536311;178536310 | chr2:179401039;179401038;179401037 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/R | rs775974075  |
-0.689 | 1.0 | D | 0.877 | 0.711 | 0.545519808136 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| S/R | rs775974075 |
-0.689 | 1.0 | D | 0.877 | 0.711 | 0.545519808136 | gnomAD-4.0.0 | 1.59171E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85858E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.4303 | ambiguous | 0.4955 | ambiguous | -0.802 | Destabilizing | 0.998 | D | 0.862 | deleterious | None | None | None | None | N |
| S/C | 0.4331 | ambiguous | 0.5119 | ambiguous | -0.65 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.553232548 | None | None | N |
| S/D | 0.9723 | likely_pathogenic | 0.9792 | pathogenic | -1.326 | Destabilizing | 0.999 | D | 0.884 | deleterious | None | None | None | None | N |
| S/E | 0.98 | likely_pathogenic | 0.9857 | pathogenic | -1.178 | Destabilizing | 0.999 | D | 0.883 | deleterious | None | None | None | None | N |
| S/F | 0.9801 | likely_pathogenic | 0.9887 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| S/G | 0.3889 | ambiguous | 0.4359 | ambiguous | -1.177 | Destabilizing | 0.999 | D | 0.875 | deleterious | N | 0.515667685 | None | None | N |
| S/H | 0.9743 | likely_pathogenic | 0.98 | pathogenic | -1.523 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| S/I | 0.9214 | likely_pathogenic | 0.9647 | pathogenic | 0.136 | Stabilizing | 1.0 | D | 0.904 | deleterious | D | 0.552725569 | None | None | N |
| S/K | 0.9964 | likely_pathogenic | 0.9976 | pathogenic | -0.725 | Destabilizing | 0.999 | D | 0.879 | deleterious | None | None | None | None | N |
| S/L | 0.7856 | likely_pathogenic | 0.8902 | pathogenic | 0.136 | Stabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| S/M | 0.8774 | likely_pathogenic | 0.9268 | pathogenic | 0.085 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| S/N | 0.8234 | likely_pathogenic | 0.8742 | pathogenic | -1.184 | Destabilizing | 0.999 | D | 0.891 | deleterious | D | 0.552472079 | None | None | N |
| S/P | 0.9863 | likely_pathogenic | 0.991 | pathogenic | -0.142 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| S/Q | 0.979 | likely_pathogenic | 0.9845 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| S/R | 0.9928 | likely_pathogenic | 0.9954 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.551711611 | None | None | N |
| S/T | 0.3762 | ambiguous | 0.4655 | ambiguous | -0.912 | Destabilizing | 0.999 | D | 0.889 | deleterious | D | 0.527224573 | None | None | N |
| S/V | 0.8768 | likely_pathogenic | 0.9294 | pathogenic | -0.142 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| S/W | 0.9817 | likely_pathogenic | 0.9884 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| S/Y | 0.9649 | likely_pathogenic | 0.9798 | pathogenic | -0.339 | Destabilizing | 1.0 | D | 0.913 | 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.