Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18533 | 55822;55823;55824 | chr2:178601400;178601399;178601398 | chr2:179466127;179466126;179466125 |
| N2AB | 16892 | 50899;50900;50901 | chr2:178601400;178601399;178601398 | chr2:179466127;179466126;179466125 |
| N2A | 15965 | 48118;48119;48120 | chr2:178601400;178601399;178601398 | chr2:179466127;179466126;179466125 |
| N2B | 9468 | 28627;28628;28629 | chr2:178601400;178601399;178601398 | chr2:179466127;179466126;179466125 |
| Novex-1 | 9593 | 29002;29003;29004 | chr2:178601400;178601399;178601398 | chr2:179466127;179466126;179466125 |
| Novex-2 | 9660 | 29203;29204;29205 | chr2:178601400;178601399;178601398 | chr2:179466127;179466126;179466125 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs1397511003  |
-0.823 | 0.999 | N | 0.799 | 0.529 | 0.739415485366 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 9.19118E-04 |
| C/R | rs1397511003 |
-0.823 | 0.999 | N | 0.799 | 0.529 | 0.739415485366 | 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 |
| C/R | rs1397511003 |
-0.823 | 0.999 | N | 0.799 | 0.529 | 0.739415485366 | gnomAD-4.0.0 | 5.58075E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.63159E-06 | 0 | 0 |
| C/W | None | None | 1.0 | N | 0.724 | 0.434 | 0.498065138572 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| C/Y | rs727503599 |
None | 0.999 | N | 0.728 | 0.425 | None | 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 |
| C/Y | rs727503599 |
None | 0.999 | N | 0.728 | 0.425 | None | gnomAD-4.0.0 | 6.57999E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47167E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.6084 | likely_pathogenic | 0.6572 | pathogenic | -1.833 | Destabilizing | 0.982 | D | 0.594 | neutral | None | None | None | None | N |
| C/D | 0.9488 | likely_pathogenic | 0.9701 | pathogenic | -0.306 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | None | None | N |
| C/E | 0.962 | likely_pathogenic | 0.9789 | pathogenic | -0.131 | Destabilizing | 0.999 | D | 0.792 | deleterious | None | None | None | None | N |
| C/F | 0.5945 | likely_pathogenic | 0.7525 | pathogenic | -1.328 | Destabilizing | 0.994 | D | 0.717 | prob.delet. | N | 0.467063144 | None | None | N |
| C/G | 0.4616 | ambiguous | 0.5771 | pathogenic | -2.175 | Highly Destabilizing | 0.999 | D | 0.761 | deleterious | N | 0.473493087 | None | None | N |
| C/H | 0.8711 | likely_pathogenic | 0.9284 | pathogenic | -2.259 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| C/I | 0.5939 | likely_pathogenic | 0.6851 | pathogenic | -0.925 | Destabilizing | 0.971 | D | 0.649 | neutral | None | None | None | None | N |
| C/K | 0.959 | likely_pathogenic | 0.9801 | pathogenic | -0.533 | Destabilizing | 0.999 | D | 0.788 | deleterious | None | None | None | None | N |
| C/L | 0.6482 | likely_pathogenic | 0.7543 | pathogenic | -0.925 | Destabilizing | 0.171 | N | 0.364 | neutral | None | None | None | None | N |
| C/M | 0.7796 | likely_pathogenic | 0.8426 | pathogenic | -0.103 | Destabilizing | 0.996 | D | 0.687 | prob.neutral | None | None | None | None | N |
| C/N | 0.806 | likely_pathogenic | 0.8564 | pathogenic | -0.855 | Destabilizing | 0.999 | D | 0.801 | deleterious | None | None | None | None | N |
| C/P | 0.9315 | likely_pathogenic | 0.9596 | pathogenic | -1.204 | Destabilizing | 0.999 | D | 0.799 | deleterious | None | None | None | None | N |
| C/Q | 0.8995 | likely_pathogenic | 0.9426 | pathogenic | -0.557 | Destabilizing | 0.999 | D | 0.794 | deleterious | None | None | None | None | N |
| C/R | 0.8293 | likely_pathogenic | 0.9066 | pathogenic | -0.817 | Destabilizing | 0.999 | D | 0.799 | deleterious | N | 0.459929438 | None | None | N |
| C/S | 0.5389 | ambiguous | 0.6028 | pathogenic | -1.363 | Destabilizing | 0.997 | D | 0.672 | neutral | N | 0.470935571 | None | None | N |
| C/T | 0.6148 | likely_pathogenic | 0.6724 | pathogenic | -0.973 | Destabilizing | 0.993 | D | 0.661 | neutral | None | None | None | None | N |
| C/V | 0.4863 | ambiguous | 0.5439 | ambiguous | -1.204 | Destabilizing | 0.971 | D | 0.593 | neutral | None | None | None | None | N |
| C/W | 0.8738 | likely_pathogenic | 0.9426 | pathogenic | -1.378 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | N | 0.500789665 | None | None | N |
| C/Y | 0.7676 | likely_pathogenic | 0.8708 | pathogenic | -1.29 | Destabilizing | 0.999 | D | 0.728 | prob.delet. | N | 0.499509039 | 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.