Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3702 | 11329;11330;11331 | chr2:178756372;178756371;178756370 | chr2:179621099;179621098;179621097 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3531 | 10816;10817;10818 | chr2:178756372;178756371;178756370 | chr2:179621099;179621098;179621097 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | rs2086938615  |
None | None | None | None | 0.104 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.1 | likely_benign | None | None | -0.415 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/C | 0.769 | likely_pathogenic | None | None | -0.035 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.1104 | likely_benign | None | None | -0.37 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/F | 0.6287 | likely_pathogenic | None | None | -0.223 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.0896 | likely_benign | None | None | -0.638 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/H | 0.4381 | ambiguous | None | None | -0.109 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.3096 | likely_benign | None | None | 0.146 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.1091 | likely_benign | None | None | 0.32 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/L | 0.3378 | likely_benign | None | None | 0.146 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.3968 | ambiguous | None | None | 0.273 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.1879 | likely_benign | None | None | -0.067 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.3054 | likely_benign | None | None | -0.02 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.1459 | likely_benign | None | None | -0.01 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/R | 0.2077 | likely_benign | None | None | 0.491 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.1642 | likely_benign | None | None | -0.224 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.1785 | likely_benign | None | None | -0.038 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.1725 | likely_benign | None | None | -0.02 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/W | 0.8055 | likely_pathogenic | None | None | -0.049 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.4745 | ambiguous | None | None | 0.027 | Stabilizing | 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.