Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7123 | 21592;21593;21594 | chr2:178723892;178723891;178723890 | chr2:179588619;179588618;179588617 |
| N2AB | 6806 | 20641;20642;20643 | chr2:178723892;178723891;178723890 | chr2:179588619;179588618;179588617 |
| N2A | 5879 | 17860;17861;17862 | chr2:178723892;178723891;178723890 | chr2:179588619;179588618;179588617 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/R | rs377229283  |
-0.031 | 1.0 | D | 0.783 | 0.592 | 0.86228062617 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/R | rs377229283 |
-0.031 | 1.0 | D | 0.783 | 0.592 | 0.86228062617 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/R | rs377229283 |
-0.031 | 1.0 | D | 0.783 | 0.592 | 0.86228062617 | gnomAD-4.0.0 | 1.11596E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18716E-05 | 0 | 6.40738E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.732 | likely_pathogenic | 0.7425 | pathogenic | -0.323 | Destabilizing | 0.999 | D | 0.603 | neutral | D | 0.613141059 | None | None | I |
| G/C | 0.9366 | likely_pathogenic | 0.9384 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | I |
| G/D | 0.9135 | likely_pathogenic | 0.9107 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/E | 0.9427 | likely_pathogenic | 0.945 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.768 | deleterious | D | 0.564934929 | None | None | I |
| G/F | 0.9801 | likely_pathogenic | 0.9799 | pathogenic | -1.138 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/H | 0.9732 | likely_pathogenic | 0.9729 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| G/I | 0.9756 | likely_pathogenic | 0.9785 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| G/K | 0.9676 | likely_pathogenic | 0.9692 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| G/L | 0.9758 | likely_pathogenic | 0.9754 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/M | 0.9838 | likely_pathogenic | 0.9844 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/N | 0.9401 | likely_pathogenic | 0.9395 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| G/P | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| G/Q | 0.9498 | likely_pathogenic | 0.9534 | pathogenic | -0.788 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/R | 0.9125 | likely_pathogenic | 0.9156 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.661633111 | None | None | I |
| G/S | 0.6019 | likely_pathogenic | 0.6068 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | I |
| G/T | 0.912 | likely_pathogenic | 0.9153 | pathogenic | -0.681 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| G/V | 0.9422 | likely_pathogenic | 0.9462 | pathogenic | -0.448 | Destabilizing | 0.989 | D | 0.563 | neutral | D | 0.662238524 | None | None | I |
| G/W | 0.9742 | likely_pathogenic | 0.9732 | pathogenic | -1.253 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.646390607 | None | None | I |
| G/Y | 0.9728 | likely_pathogenic | 0.9711 | pathogenic | -0.926 | Destabilizing | 1.0 | D | 0.804 | 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.