Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27481 | 82666;82667;82668 | chr2:178563691;178563690;178563689 | chr2:179428418;179428417;179428416 |
| N2AB | 25840 | 77743;77744;77745 | chr2:178563691;178563690;178563689 | chr2:179428418;179428417;179428416 |
| N2A | 24913 | 74962;74963;74964 | chr2:178563691;178563690;178563689 | chr2:179428418;179428417;179428416 |
| N2B | 18416 | 55471;55472;55473 | chr2:178563691;178563690;178563689 | chr2:179428418;179428417;179428416 |
| Novex-1 | 18541 | 55846;55847;55848 | chr2:178563691;178563690;178563689 | chr2:179428418;179428417;179428416 |
| Novex-2 | 18608 | 56047;56048;56049 | chr2:178563691;178563690;178563689 | chr2:179428418;179428417;179428416 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/F | rs780039092  |
-1.557 | 0.998 | N | 0.574 | 0.368 | 0.6296786883 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/F | rs780039092 |
-1.557 | 0.998 | N | 0.574 | 0.368 | 0.6296786883 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 1.20656E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/F | rs780039092 |
-1.557 | 0.998 | N | 0.574 | 0.368 | 0.6296786883 | gnomAD-4.0.0 | 3.28692E-05 | None | None | None | None | N | None | 1.20656E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs780039092 |
-1.113 | 0.333 | N | 0.159 | 0.104 | 0.448201132538 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| I/V | rs780039092 |
-1.113 | 0.333 | N | 0.159 | 0.104 | 0.448201132538 | gnomAD-4.0.0 | 1.59122E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85834E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.4449 | ambiguous | 0.475 | ambiguous | -1.687 | Destabilizing | 0.992 | D | 0.503 | neutral | None | None | None | None | N |
| I/C | 0.7525 | likely_pathogenic | 0.7687 | pathogenic | -1.355 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| I/D | 0.9417 | likely_pathogenic | 0.9411 | pathogenic | -1.328 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| I/E | 0.8571 | likely_pathogenic | 0.8621 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| I/F | 0.3576 | ambiguous | 0.371 | ambiguous | -1.562 | Destabilizing | 0.998 | D | 0.574 | neutral | N | 0.483996219 | None | None | N |
| I/G | 0.833 | likely_pathogenic | 0.8402 | pathogenic | -1.982 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| I/H | 0.8496 | likely_pathogenic | 0.8584 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| I/K | 0.678 | likely_pathogenic | 0.7071 | pathogenic | -1.001 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| I/L | 0.2226 | likely_benign | 0.2264 | benign | -0.953 | Destabilizing | 0.889 | D | 0.26 | neutral | D | 0.523138047 | None | None | N |
| I/M | 0.1707 | likely_benign | 0.1953 | benign | -0.769 | Destabilizing | 0.998 | D | 0.56 | neutral | N | 0.500187916 | None | None | N |
| I/N | 0.652 | likely_pathogenic | 0.6638 | pathogenic | -0.873 | Destabilizing | 0.999 | D | 0.748 | deleterious | N | 0.499427448 | None | None | N |
| I/P | 0.7906 | likely_pathogenic | 0.7998 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| I/Q | 0.7356 | likely_pathogenic | 0.7596 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| I/R | 0.5917 | likely_pathogenic | 0.6135 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| I/S | 0.5466 | ambiguous | 0.5775 | pathogenic | -1.501 | Destabilizing | 0.998 | D | 0.681 | prob.neutral | N | 0.50936346 | None | None | N |
| I/T | 0.3994 | ambiguous | 0.4336 | ambiguous | -1.391 | Destabilizing | 0.989 | D | 0.577 | neutral | N | 0.519444381 | None | None | N |
| I/V | 0.0666 | likely_benign | 0.0652 | benign | -1.168 | Destabilizing | 0.333 | N | 0.159 | neutral | N | 0.410369902 | None | None | N |
| I/W | 0.9305 | likely_pathogenic | 0.93 | pathogenic | -1.614 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| I/Y | 0.7974 | likely_pathogenic | 0.807 | pathogenic | -1.325 | Destabilizing | 1.0 | D | 0.662 | neutral | 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.