Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15844 | 47755;47756;47757 | chr2:178617821;178617820;178617819 | chr2:179482548;179482547;179482546 |
| N2AB | 14203 | 42832;42833;42834 | chr2:178617821;178617820;178617819 | chr2:179482548;179482547;179482546 |
| N2A | 13276 | 40051;40052;40053 | chr2:178617821;178617820;178617819 | chr2:179482548;179482547;179482546 |
| N2B | 6779 | 20560;20561;20562 | chr2:178617821;178617820;178617819 | chr2:179482548;179482547;179482546 |
| Novex-1 | 6904 | 20935;20936;20937 | chr2:178617821;178617820;178617819 | chr2:179482548;179482547;179482546 |
| Novex-2 | 6971 | 21136;21137;21138 | chr2:178617821;178617820;178617819 | chr2:179482548;179482547;179482546 |
| 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/A | rs760956511  |
-1.53 | 1.0 | D | 0.723 | 0.416 | 0.364730456448 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.6835E-04 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs760956511 |
-1.53 | 1.0 | D | 0.723 | 0.416 | 0.364730456448 | gnomAD-4.0.0 | 3.18799E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56452E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs774050002 |
-0.826 | 1.0 | D | 0.826 | 0.489 | 0.767917627303 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| P/L | rs774050002 |
-0.826 | 1.0 | D | 0.826 | 0.489 | 0.767917627303 | gnomAD-4.0.0 | 6.84712E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99969E-07 | 0 | 0 |
| P/Q | rs774050002 |
None | 1.0 | D | 0.786 | 0.479 | 0.596401026678 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/Q | rs774050002 |
None | 1.0 | D | 0.786 | 0.479 | 0.596401026678 | gnomAD-4.0.0 | 3.72129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.24074E-06 | 0 | 1.60339E-05 |
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 | 0.1611 | likely_benign | 0.1626 | benign | -1.64 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.566632811 | None | None | N |
| P/C | 0.9002 | likely_pathogenic | 0.8592 | pathogenic | -1.045 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| P/D | 0.9422 | likely_pathogenic | 0.9488 | pathogenic | -1.755 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| P/E | 0.8661 | likely_pathogenic | 0.8876 | pathogenic | -1.795 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| P/F | 0.8808 | likely_pathogenic | 0.8482 | pathogenic | -1.417 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/G | 0.7068 | likely_pathogenic | 0.6966 | pathogenic | -1.907 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| P/H | 0.8004 | likely_pathogenic | 0.7737 | pathogenic | -1.34 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/I | 0.8142 | likely_pathogenic | 0.8213 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/K | 0.9493 | likely_pathogenic | 0.9504 | pathogenic | -1.312 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| P/L | 0.6017 | likely_pathogenic | 0.63 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.65084989 | None | None | N |
| P/M | 0.8061 | likely_pathogenic | 0.8137 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/N | 0.8962 | likely_pathogenic | 0.8913 | pathogenic | -1.071 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/Q | 0.7563 | likely_pathogenic | 0.7616 | pathogenic | -1.356 | Destabilizing | 1.0 | D | 0.786 | deleterious | D | 0.694996058 | None | None | N |
| P/R | 0.879 | likely_pathogenic | 0.8826 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.677377196 | None | None | N |
| P/S | 0.474 | ambiguous | 0.4615 | ambiguous | -1.516 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.603019013 | None | None | N |
| P/T | 0.5281 | ambiguous | 0.5479 | ambiguous | -1.465 | Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.665611964 | None | None | N |
| P/V | 0.6383 | likely_pathogenic | 0.6529 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| P/W | 0.9561 | likely_pathogenic | 0.9439 | pathogenic | -1.526 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/Y | 0.8838 | likely_pathogenic | 0.8547 | pathogenic | -1.285 | Destabilizing | 1.0 | D | 0.867 | 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.