Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34041 | 102346;102347;102348 | chr2:178534494;178534493;178534492 | chr2:179399221;179399220;179399219 |
| N2AB | 32400 | 97423;97424;97425 | chr2:178534494;178534493;178534492 | chr2:179399221;179399220;179399219 |
| N2A | 31473 | 94642;94643;94644 | chr2:178534494;178534493;178534492 | chr2:179399221;179399220;179399219 |
| N2B | 24976 | 75151;75152;75153 | chr2:178534494;178534493;178534492 | chr2:179399221;179399220;179399219 |
| Novex-1 | 25101 | 75526;75527;75528 | chr2:178534494;178534493;178534492 | chr2:179399221;179399220;179399219 |
| Novex-2 | 25168 | 75727;75728;75729 | chr2:178534494;178534493;178534492 | chr2:179399221;179399220;179399219 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: E
- RefSeq wild type transcript codon: GAG
- RefSeq wild type template codon: CTC
- Domain: Kinase-1
- Domain position: 229
- Q(SASA): 0.3863
- Predicted PPI site: N
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 | rs1255397275  |
-0.64 | None | N | None | 0.288 | 0.352693368174 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| E/G | rs1255397275 |
-0.64 | None | N | None | 0.288 | 0.352693368174 | gnomAD-4.0.0 | 4.10553E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99462E-07 | 4.63736E-05 | 1.65667E-05 |
| E/K | rs377600383 |
0.446 | None | N | None | 0.212 | None | gnomAD-2.1.1 | 1.178E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.49891E-04 | 1.40331E-04 |
| E/K | rs377600383 |
0.446 | None | N | None | 0.212 | None | gnomAD-3.1.2 | 1.37951E-04 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 3.0866E-04 | 0 | 0 |
| E/K | rs377600383 |
0.446 | None | N | None | 0.212 | None | gnomAD-4.0.0 | 7.49853E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.26292E-05 | 0 | 9.83207E-05 | 0 | 1.60102E-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 | 0.2583 | likely_benign | 0.2535 | benign | -0.228 | Destabilizing | None | None | None | None | N | 0.49284493 | None | None | N |
| E/C | 0.9062 | likely_pathogenic | 0.9099 | pathogenic | -0.209 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.1468 | likely_benign | 0.1525 | benign | -0.322 | Destabilizing | None | None | None | None | N | 0.466525121 | None | None | N |
| E/F | 0.8328 | likely_pathogenic | 0.8288 | pathogenic | -0.104 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.2326 | likely_benign | 0.2195 | benign | -0.397 | Destabilizing | None | None | None | None | N | 0.440994745 | None | None | N |
| E/H | 0.6344 | likely_pathogenic | 0.6247 | pathogenic | 0.364 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.6298 | likely_pathogenic | 0.6119 | pathogenic | 0.173 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.3563 | ambiguous | 0.3071 | benign | 0.339 | Stabilizing | None | None | None | None | N | 0.450843592 | None | None | N |
| E/L | 0.6479 | likely_pathogenic | 0.6165 | pathogenic | 0.173 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.6681 | likely_pathogenic | 0.6634 | pathogenic | 0.044 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.3203 | likely_benign | 0.3257 | benign | -0.023 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.8606 | likely_pathogenic | 0.8846 | pathogenic | 0.059 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.2766 | likely_benign | 0.2707 | benign | 0.016 | Stabilizing | None | None | None | None | N | 0.475413963 | None | None | N |
| E/R | 0.4535 | ambiguous | 0.4136 | ambiguous | 0.617 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.3166 | likely_benign | 0.3126 | benign | -0.158 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.3653 | ambiguous | 0.3639 | ambiguous | -0.014 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.4328 | ambiguous | 0.4177 | ambiguous | 0.059 | Stabilizing | None | None | None | None | N | 0.511297405 | None | None | N |
| E/W | 0.9447 | likely_pathogenic | 0.9419 | pathogenic | 0.022 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.7116 | likely_pathogenic | 0.6962 | pathogenic | 0.133 | 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.