Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3535 | 10828;10829;10830 | chr2:178757617;178757616;178757615 | chr2:179622344;179622343;179622342 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3489 | 10690;10691;10692 | chr2:178757617;178757616;178757615 | chr2:179622344;179622343;179622342 |
| 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/A | None | None | None | None | None | 0.474 | None | gnomAD-4.0.0 | 1.59265E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43464E-05 | 0 |
| G/E | None | None | None | None | None | 0.488 | None | gnomAD-4.0.0 | 1.59265E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86126E-06 | 0 | 0 |
| G/R | rs374978923  |
-0.578 | None | None | None | 0.576 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 9.82E-05 | None | 0 | 0 | 0 |
| G/R | rs374978923 |
-0.578 | None | None | None | 0.576 | None | gnomAD-4.0.0 | 1.16353E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09759E-06 | 9.28376E-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 | 0.6164 | likely_pathogenic | None | None | -0.875 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/C | 0.938 | likely_pathogenic | None | None | -0.991 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/D | 0.9066 | likely_pathogenic | None | None | -1.642 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/E | 0.9351 | likely_pathogenic | None | None | -1.634 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/F | 0.9925 | likely_pathogenic | None | None | -1.139 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/H | 0.9888 | likely_pathogenic | None | None | -1.671 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/I | 0.988 | likely_pathogenic | None | None | -0.254 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/K | 0.9824 | likely_pathogenic | None | None | -1.306 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/L | 0.985 | likely_pathogenic | None | None | -0.254 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/M | 0.9918 | likely_pathogenic | None | None | -0.16 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/N | 0.9596 | likely_pathogenic | None | None | -1.133 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/P | 0.9981 | likely_pathogenic | None | None | -0.418 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/Q | 0.9577 | likely_pathogenic | None | None | -1.23 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/R | 0.943 | likely_pathogenic | None | None | -1.086 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/S | 0.5295 | ambiguous | None | None | -1.427 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/T | 0.9482 | likely_pathogenic | None | None | -1.33 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/V | 0.9682 | likely_pathogenic | None | None | -0.418 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/W | 0.9879 | likely_pathogenic | None | None | -1.648 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/Y | 0.9907 | likely_pathogenic | None | None | -1.169 | Destabilizing | None | None | None | None | 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.