Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16084 | 48475;48476;48477 | chr2:178616541;178616540;178616539 | chr2:179481268;179481267;179481266 |
| N2AB | 14443 | 43552;43553;43554 | chr2:178616541;178616540;178616539 | chr2:179481268;179481267;179481266 |
| N2A | 13516 | 40771;40772;40773 | chr2:178616541;178616540;178616539 | chr2:179481268;179481267;179481266 |
| N2B | 7019 | 21280;21281;21282 | chr2:178616541;178616540;178616539 | chr2:179481268;179481267;179481266 |
| Novex-1 | 7144 | 21655;21656;21657 | chr2:178616541;178616540;178616539 | chr2:179481268;179481267;179481266 |
| Novex-2 | 7211 | 21856;21857;21858 | chr2:178616541;178616540;178616539 | chr2:179481268;179481267;179481266 |
| 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/A | None | None | 1.0 | D | 0.623 | 0.448 | 0.351830644314 | gnomAD-4.0.0 | 6.84696E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99991E-07 | 0 | 0 |
| G/E | None | None | 1.0 | D | 0.788 | 0.513 | 0.496299407791 | gnomAD-4.0.0 | 6.84696E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99991E-07 | 0 | 0 |
| G/R | rs1331594861  |
None | 1.0 | D | 0.793 | 0.536 | 0.615590475704 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs1331594861 |
None | 1.0 | D | 0.793 | 0.536 | 0.615590475704 | gnomAD-4.0.0 | 6.58683E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47332E-05 | 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 | 0.7592 | likely_pathogenic | 0.8315 | pathogenic | -0.135 | Destabilizing | 1.0 | D | 0.623 | neutral | D | 0.60198393 | None | None | I |
| G/C | 0.7763 | likely_pathogenic | 0.857 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/D | 0.8727 | likely_pathogenic | 0.9093 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| G/E | 0.9211 | likely_pathogenic | 0.9447 | pathogenic | -0.693 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.647243649 | None | None | I |
| G/F | 0.9602 | likely_pathogenic | 0.9691 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/H | 0.9571 | likely_pathogenic | 0.9734 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| G/I | 0.9571 | likely_pathogenic | 0.9694 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/K | 0.9654 | likely_pathogenic | 0.9771 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/L | 0.9439 | likely_pathogenic | 0.9622 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/M | 0.9623 | likely_pathogenic | 0.9749 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/N | 0.8827 | likely_pathogenic | 0.9202 | pathogenic | -0.179 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | I |
| G/P | 0.9951 | likely_pathogenic | 0.997 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/Q | 0.9315 | likely_pathogenic | 0.9543 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/R | 0.9187 | likely_pathogenic | 0.9446 | pathogenic | -0.066 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.620670566 | None | None | I |
| G/S | 0.6001 | likely_pathogenic | 0.6978 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| G/T | 0.9129 | likely_pathogenic | 0.9369 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/V | 0.9364 | likely_pathogenic | 0.956 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.792 | deleterious | D | 0.743091037 | None | None | I |
| G/W | 0.9521 | likely_pathogenic | 0.9659 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/Y | 0.9481 | likely_pathogenic | 0.9646 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.773 | 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.