Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3502 | 10729;10730;10731 | chr2:178757716;178757715;178757714 | chr2:179622443;179622442;179622441 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3456 | 10591;10592;10593 | chr2:178757716;178757715;178757714 | chr2:179622443;179622442;179622441 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | None | None | None | None | None | 0.058 | None | gnomAD-4.0.0 | 1.59111E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85804E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.3606 | ambiguous | None | None | -0.12 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/C | 0.7392 | likely_pathogenic | None | None | 0.092 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/D | 0.3006 | likely_benign | None | None | 0.078 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/E | 0.0931 | likely_benign | None | None | 0.045 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/F | 0.8336 | likely_pathogenic | None | None | -0.384 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/G | 0.2008 | likely_benign | None | None | -0.283 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/H | 0.2104 | likely_benign | None | None | -0.076 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/I | 0.7434 | likely_pathogenic | None | None | 0.216 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/K | 0.1073 | likely_benign | None | None | 0.101 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/L | 0.2974 | likely_benign | None | None | 0.216 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/M | 0.6441 | likely_pathogenic | None | None | 0.265 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/N | 0.2414 | likely_benign | None | None | -0.179 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/P | 0.4804 | ambiguous | None | None | 0.132 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/R | 0.1145 | likely_benign | None | None | 0.288 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/S | 0.2649 | likely_benign | None | None | -0.185 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/T | 0.3527 | ambiguous | None | None | -0.071 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/V | 0.6084 | likely_pathogenic | None | None | 0.132 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/W | 0.719 | likely_pathogenic | None | None | -0.407 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/Y | 0.5848 | likely_pathogenic | None | None | -0.132 | Destabilizing | None | None | None | None | 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.