Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3522 | 10789;10790;10791 | chr2:178757656;178757655;178757654 | chr2:179622383;179622382;179622381 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3476 | 10651;10652;10653 | chr2:178757656;178757655;178757654 | chr2:179622383;179622382;179622381 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs794729587  |
None | None | None | None | 0.223 | None | gnomAD-4.0.0 | 4.10523E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49736E-06 | 0 | 1.65651E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7872 | likely_pathogenic | None | None | -0.932 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.9723 | likely_pathogenic | None | None | -2.597 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/E | 0.9493 | likely_pathogenic | None | None | -2.359 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/F | 0.8115 | likely_pathogenic | None | None | -0.716 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.3979 | ambiguous | None | None | -1.653 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/H | 0.9617 | likely_pathogenic | None | None | -2.247 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.7329 | likely_pathogenic | None | None | 0.224 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.9861 | likely_pathogenic | None | None | -1.293 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.5652 | likely_pathogenic | None | None | 0.224 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.7127 | likely_pathogenic | None | None | 0.1 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.9337 | likely_pathogenic | None | None | -1.668 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.9704 | likely_pathogenic | None | None | -0.195 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Q | 0.9336 | likely_pathogenic | None | None | -1.405 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.9609 | likely_pathogenic | None | None | -1.455 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.3031 | likely_benign | None | None | -2.028 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/T | 0.4223 | ambiguous | None | None | -1.669 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/V | 0.3949 | ambiguous | None | None | -0.195 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/W | 0.9869 | likely_pathogenic | None | None | -1.638 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.9134 | likely_pathogenic | None | None | -1.046 | 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.