Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28782 | 86569;86570;86571 | chr2:178559788;178559787;178559786 | chr2:179424515;179424514;179424513 |
| N2AB | 27141 | 81646;81647;81648 | chr2:178559788;178559787;178559786 | chr2:179424515;179424514;179424513 |
| N2A | 26214 | 78865;78866;78867 | chr2:178559788;178559787;178559786 | chr2:179424515;179424514;179424513 |
| N2B | 19717 | 59374;59375;59376 | chr2:178559788;178559787;178559786 | chr2:179424515;179424514;179424513 |
| Novex-1 | 19842 | 59749;59750;59751 | chr2:178559788;178559787;178559786 | chr2:179424515;179424514;179424513 |
| Novex-2 | 19909 | 59950;59951;59952 | chr2:178559788;178559787;178559786 | chr2:179424515;179424514;179424513 |
| 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/L | rs561319491  |
-0.181 | 1.0 | D | 0.759 | 0.561 | None | gnomAD-2.1.1 | 1.65E-05 | None | None | None | None | I | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.71E-05 | 0 |
| P/L | rs561319491 |
-0.181 | 1.0 | D | 0.759 | 0.561 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| P/L | rs561319491 |
-0.181 | 1.0 | D | 0.759 | 0.561 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| P/L | rs561319491 |
-0.181 | 1.0 | D | 0.759 | 0.561 | None | gnomAD-4.0.0 | 2.61359E-05 | None | None | None | None | I | None | 1.33422E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39778E-05 | 0 | 1.60694E-05 |
| P/Q | None | -0.395 | 1.0 | D | 0.769 | 0.591 | 0.678050635466 | gnomAD-2.1.1 | 4.12E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.03E-06 | 0 |
| P/Q | None | -0.395 | 1.0 | D | 0.769 | 0.591 | 0.678050635466 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/Q | None | -0.395 | 1.0 | D | 0.769 | 0.591 | 0.678050635466 | gnomAD-4.0.0 | 1.30689E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69888E-05 | 0 | 1.60751E-05 |
| P/R | rs561319491 |
0.162 | 1.0 | D | 0.789 | 0.582 | 0.712739669407 | gnomAD-2.1.1 | 4.12E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.39E-05 | None | 0 | 0 | 0 |
| P/R | rs561319491 |
0.162 | 1.0 | D | 0.789 | 0.582 | 0.712739669407 | gnomAD-4.0.0 | 6.87399E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.17233E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9432 | likely_pathogenic | 0.916 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | D | 0.55470794 | None | None | I |
| P/C | 0.9948 | likely_pathogenic | 0.9925 | pathogenic | -0.661 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| P/D | 0.9891 | likely_pathogenic | 0.986 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| P/E | 0.9883 | likely_pathogenic | 0.9824 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| P/F | 0.997 | likely_pathogenic | 0.996 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| P/G | 0.9778 | likely_pathogenic | 0.9727 | pathogenic | -0.706 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| P/H | 0.9823 | likely_pathogenic | 0.976 | pathogenic | -0.239 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| P/I | 0.9785 | likely_pathogenic | 0.9693 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| P/K | 0.9871 | likely_pathogenic | 0.9829 | pathogenic | -0.612 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| P/L | 0.9474 | likely_pathogenic | 0.9302 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.595294741 | None | None | I |
| P/M | 0.9838 | likely_pathogenic | 0.9762 | pathogenic | -0.447 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| P/N | 0.9845 | likely_pathogenic | 0.9794 | pathogenic | -0.359 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| P/Q | 0.981 | likely_pathogenic | 0.9721 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.56622883 | None | None | I |
| P/R | 0.9732 | likely_pathogenic | 0.9658 | pathogenic | -0.08 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.627162019 | None | None | I |
| P/S | 0.9819 | likely_pathogenic | 0.9716 | pathogenic | -0.693 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.565721851 | None | None | I |
| P/T | 0.9549 | likely_pathogenic | 0.9306 | pathogenic | -0.691 | Destabilizing | 1.0 | D | 0.742 | deleterious | D | 0.627162019 | None | None | I |
| P/V | 0.9606 | likely_pathogenic | 0.945 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | I |
| P/W | 0.9979 | likely_pathogenic | 0.997 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| P/Y | 0.9946 | likely_pathogenic | 0.9929 | pathogenic | -0.517 | Destabilizing | 1.0 | D | 0.815 | 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.