Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29205 | 87838;87839;87840 | chr2:178557741;178557740;178557739 | chr2:179422468;179422467;179422466 |
| N2AB | 27564 | 82915;82916;82917 | chr2:178557741;178557740;178557739 | chr2:179422468;179422467;179422466 |
| N2A | 26637 | 80134;80135;80136 | chr2:178557741;178557740;178557739 | chr2:179422468;179422467;179422466 |
| N2B | 20140 | 60643;60644;60645 | chr2:178557741;178557740;178557739 | chr2:179422468;179422467;179422466 |
| Novex-1 | 20265 | 61018;61019;61020 | chr2:178557741;178557740;178557739 | chr2:179422468;179422467;179422466 |
| Novex-2 | 20332 | 61219;61220;61221 | chr2:178557741;178557740;178557739 | chr2:179422468;179422467;179422466 |
| 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/E | rs764436476  |
-1.157 | 1.0 | N | 0.872 | 0.717 | 0.544173085412 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 8.87E-06 | 0 |
| G/E | rs764436476 |
-1.157 | 1.0 | N | 0.872 | 0.717 | 0.544173085412 | gnomAD-4.0.0 | 6.36414E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71559E-06 | 2.86607E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3806 | ambiguous | 0.38 | ambiguous | -0.374 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.4961299 | None | None | I |
| G/C | 0.4743 | ambiguous | 0.4866 | ambiguous | -0.898 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/D | 0.3619 | ambiguous | 0.358 | ambiguous | -0.688 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/E | 0.4737 | ambiguous | 0.4411 | ambiguous | -0.851 | Destabilizing | 1.0 | D | 0.872 | deleterious | N | 0.505346612 | None | None | I |
| G/F | 0.8601 | likely_pathogenic | 0.8644 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| G/H | 0.6328 | likely_pathogenic | 0.6289 | pathogenic | -0.633 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/I | 0.8703 | likely_pathogenic | 0.8704 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| G/K | 0.6403 | likely_pathogenic | 0.5987 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/L | 0.778 | likely_pathogenic | 0.7852 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/M | 0.7497 | likely_pathogenic | 0.763 | pathogenic | -0.44 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/N | 0.3567 | ambiguous | 0.3801 | ambiguous | -0.556 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/P | 0.98 | likely_pathogenic | 0.9826 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/Q | 0.5328 | ambiguous | 0.5014 | ambiguous | -0.868 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/R | 0.5158 | ambiguous | 0.4732 | ambiguous | -0.437 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.533592631 | None | None | I |
| G/S | 0.1835 | likely_benign | 0.1885 | benign | -0.707 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/T | 0.4413 | ambiguous | 0.4584 | ambiguous | -0.804 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/V | 0.7611 | likely_pathogenic | 0.7622 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.529744744 | None | None | I |
| G/W | 0.6933 | likely_pathogenic | 0.6827 | pathogenic | -1.208 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/Y | 0.7256 | likely_pathogenic | 0.7548 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.825 | 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.