Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31444 | 94555;94556;94557 | chr2:178547195;178547194;178547193 | chr2:179411922;179411921;179411920 |
| N2AB | 29803 | 89632;89633;89634 | chr2:178547195;178547194;178547193 | chr2:179411922;179411921;179411920 |
| N2A | 28876 | 86851;86852;86853 | chr2:178547195;178547194;178547193 | chr2:179411922;179411921;179411920 |
| N2B | 22379 | 67360;67361;67362 | chr2:178547195;178547194;178547193 | chr2:179411922;179411921;179411920 |
| Novex-1 | 22504 | 67735;67736;67737 | chr2:178547195;178547194;178547193 | chr2:179411922;179411921;179411920 |
| Novex-2 | 22571 | 67936;67937;67938 | chr2:178547195;178547194;178547193 | chr2:179411922;179411921;179411920 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs1697578690  |
None | 1.0 | N | 0.797 | 0.388 | 0.507928266286 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/C | rs1697578690 |
None | 1.0 | N | 0.797 | 0.388 | 0.507928266286 | gnomAD-4.0.0 | 6.57289E-06 | None | None | None | None | N | None | 2.41406E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | rs533447102 |
-1.794 | 1.0 | N | 0.839 | 0.5 | 0.630156806279 | gnomAD-2.1.1 | 5.62E-05 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 3.92131E-04 | None | 0 | 0 | 1.65508E-04 |
| W/R | rs533447102 |
-1.794 | 1.0 | N | 0.839 | 0.5 | 0.630156806279 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14422E-04 | 0 |
| W/R | rs533447102 |
-1.794 | 1.0 | N | 0.839 | 0.5 | 0.630156806279 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| W/R | rs533447102 |
-1.794 | 1.0 | N | 0.839 | 0.5 | 0.630156806279 | gnomAD-4.0.0 | 2.23073E-05 | None | None | None | None | N | None | 2.66581E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69523E-06 | 3.4036E-04 | 1.60067E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.8513 | likely_pathogenic | 0.7901 | pathogenic | -3.217 | Highly Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| W/C | 0.7723 | likely_pathogenic | 0.7168 | pathogenic | -1.644 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.481635354 | None | None | N |
| W/D | 0.988 | likely_pathogenic | 0.9786 | pathogenic | -3.022 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| W/E | 0.9728 | likely_pathogenic | 0.9581 | pathogenic | -2.928 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| W/F | 0.2462 | likely_benign | 0.2297 | benign | -1.941 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| W/G | 0.8925 | likely_pathogenic | 0.8098 | pathogenic | -3.434 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.481697905 | None | None | N |
| W/H | 0.696 | likely_pathogenic | 0.6447 | pathogenic | -2.088 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| W/I | 0.4863 | ambiguous | 0.4685 | ambiguous | -2.388 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| W/K | 0.9749 | likely_pathogenic | 0.9634 | pathogenic | -2.137 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| W/L | 0.3703 | ambiguous | 0.3648 | ambiguous | -2.388 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.437689789 | None | None | N |
| W/M | 0.6085 | likely_pathogenic | 0.5666 | pathogenic | -1.823 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| W/N | 0.9317 | likely_pathogenic | 0.894 | pathogenic | -2.683 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| W/P | 0.999 | likely_pathogenic | 0.9984 | pathogenic | -2.691 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| W/Q | 0.9316 | likely_pathogenic | 0.8964 | pathogenic | -2.626 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| W/R | 0.9399 | likely_pathogenic | 0.919 | pathogenic | -1.671 | Destabilizing | 1.0 | D | 0.839 | deleterious | N | 0.475186598 | None | None | N |
| W/S | 0.754 | likely_pathogenic | 0.653 | pathogenic | -2.936 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | N | 0.480920491 | None | None | N |
| W/T | 0.7589 | likely_pathogenic | 0.6696 | pathogenic | -2.781 | Highly Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| W/V | 0.4909 | ambiguous | 0.4476 | ambiguous | -2.691 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| W/Y | 0.4077 | ambiguous | 0.3694 | ambiguous | -1.784 | Destabilizing | 1.0 | D | 0.741 | deleterious | 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.