Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2105 | 6538;6539;6540 | chr2:178775551;178775550;178775549 | chr2:179640278;179640277;179640276 |
| N2AB | 2105 | 6538;6539;6540 | chr2:178775551;178775550;178775549 | chr2:179640278;179640277;179640276 |
| N2A | 2105 | 6538;6539;6540 | chr2:178775551;178775550;178775549 | chr2:179640278;179640277;179640276 |
| N2B | 2059 | 6400;6401;6402 | chr2:178775551;178775550;178775549 | chr2:179640278;179640277;179640276 |
| Novex-1 | 2059 | 6400;6401;6402 | chr2:178775551;178775550;178775549 | chr2:179640278;179640277;179640276 |
| Novex-2 | 2059 | 6400;6401;6402 | chr2:178775551;178775550;178775549 | chr2:179640278;179640277;179640276 |
| Novex-3 | 2105 | 6538;6539;6540 | chr2:178775551;178775550;178775549 | chr2:179640278;179640277;179640276 |
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/R | rs547169244  |
-0.529 | 1.0 | D | 0.772 | 0.816 | 0.694656268378 | gnomAD-2.1.1 | 1.99E-05 | None | None | None | None | I | None | 0 | 8.69E-05 | None | 9.95E-05 | 0 | None | 0 | None | 4.62E-05 | 0 | 0 |
| P/R | rs547169244 |
-0.529 | 1.0 | D | 0.772 | 0.816 | 0.694656268378 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 1.30993E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | rs547169244 |
-0.529 | 1.0 | D | 0.772 | 0.816 | 0.694656268378 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| P/R | rs547169244 |
-0.529 | 1.0 | D | 0.772 | 0.816 | 0.694656268378 | gnomAD-4.0.0 | 1.02455E-05 | None | None | None | None | I | None | 0 | 8.47371E-05 | None | 4.09031E-05 | 0 | None | 3.13804E-05 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9578 | likely_pathogenic | 0.9401 | pathogenic | -0.62 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | D | 0.668280755 | None | None | I |
| P/C | 0.9984 | likely_pathogenic | 0.9971 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| P/D | 0.9945 | likely_pathogenic | 0.9921 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| P/E | 0.9911 | likely_pathogenic | 0.9876 | pathogenic | -0.632 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | I |
| P/F | 0.9988 | likely_pathogenic | 0.9982 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| P/G | 0.9875 | likely_pathogenic | 0.9836 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| P/H | 0.9943 | likely_pathogenic | 0.991 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| P/I | 0.9886 | likely_pathogenic | 0.9844 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| P/K | 0.9945 | likely_pathogenic | 0.9921 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | I |
| P/L | 0.9723 | likely_pathogenic | 0.9633 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.76779063 | None | None | I |
| P/M | 0.9911 | likely_pathogenic | 0.9861 | pathogenic | -0.313 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | I |
| P/N | 0.9939 | likely_pathogenic | 0.9907 | pathogenic | -0.217 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| P/Q | 0.9919 | likely_pathogenic | 0.9877 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.676649023 | None | None | I |
| P/R | 0.9882 | likely_pathogenic | 0.9834 | pathogenic | -0.021 | Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.736655833 | None | None | I |
| P/S | 0.9924 | likely_pathogenic | 0.9881 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.750377005 | None | None | I |
| P/T | 0.969 | likely_pathogenic | 0.9554 | pathogenic | -0.565 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | D | 0.773068517 | None | None | I |
| P/V | 0.9717 | likely_pathogenic | 0.9629 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| P/W | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| P/Y | 0.9977 | likely_pathogenic | 0.9967 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.809 | 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.