Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18710 | 56353;56354;56355 | chr2:178599773;178599772;178599771 | chr2:179464500;179464499;179464498 |
| N2AB | 17069 | 51430;51431;51432 | chr2:178599773;178599772;178599771 | chr2:179464500;179464499;179464498 |
| N2A | 16142 | 48649;48650;48651 | chr2:178599773;178599772;178599771 | chr2:179464500;179464499;179464498 |
| N2B | 9645 | 29158;29159;29160 | chr2:178599773;178599772;178599771 | chr2:179464500;179464499;179464498 |
| Novex-1 | 9770 | 29533;29534;29535 | chr2:178599773;178599772;178599771 | chr2:179464500;179464499;179464498 |
| Novex-2 | 9837 | 29734;29735;29736 | chr2:178599773;178599772;178599771 | chr2:179464500;179464499;179464498 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 1.0 | D | 0.799 | 0.882 | 0.642270024921 | gnomAD-4.0.0 | 1.59696E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.78893E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs1328807587  |
-0.571 | 1.0 | D | 0.763 | 0.885 | 0.548358248517 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | I | None | 0 | 2.94E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs1328807587 |
-0.571 | 1.0 | D | 0.763 | 0.885 | 0.548358248517 | gnomAD-4.0.0 | 1.37057E-06 | None | None | None | None | I | None | 0 | 2.24881E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65959E-05 |
| G/V | rs748172946 |
0.184 | 1.0 | D | 0.765 | 0.86 | 0.921936245945 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| G/V | rs748172946 |
0.184 | 1.0 | D | 0.765 | 0.86 | 0.921936245945 | gnomAD-4.0.0 | 1.59696E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86548E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7596 | likely_pathogenic | 0.6437 | pathogenic | -0.308 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | D | 0.54489178 | None | None | I |
| G/C | 0.9701 | likely_pathogenic | 0.9613 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | D | 0.613541078 | None | None | I |
| G/D | 0.9909 | likely_pathogenic | 0.9923 | pathogenic | -0.664 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.637868364 | None | None | I |
| G/E | 0.995 | likely_pathogenic | 0.9951 | pathogenic | -0.764 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| G/F | 0.9977 | likely_pathogenic | 0.9973 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | I |
| G/H | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -0.565 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| G/I | 0.9928 | likely_pathogenic | 0.9898 | pathogenic | -0.256 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | I |
| G/K | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/L | 0.9956 | likely_pathogenic | 0.9934 | pathogenic | -0.256 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| G/M | 0.9968 | likely_pathogenic | 0.9953 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| G/N | 0.9963 | likely_pathogenic | 0.996 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | I |
| G/P | 0.9992 | likely_pathogenic | 0.9989 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/Q | 0.9982 | likely_pathogenic | 0.9979 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/R | 0.9961 | likely_pathogenic | 0.9958 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.638675581 | None | None | I |
| G/S | 0.9159 | likely_pathogenic | 0.8912 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.578636018 | None | None | I |
| G/T | 0.9825 | likely_pathogenic | 0.9768 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/V | 0.9782 | likely_pathogenic | 0.9675 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.62265622 | None | None | I |
| G/W | 0.9959 | likely_pathogenic | 0.9959 | pathogenic | -1.095 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9966 | likely_pathogenic | 0.9964 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
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.