Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33902 | 101929;101930;101931 | chr2:178534911;178534910;178534909 | chr2:179399638;179399637;179399636 |
| N2AB | 32261 | 97006;97007;97008 | chr2:178534911;178534910;178534909 | chr2:179399638;179399637;179399636 |
| N2A | 31334 | 94225;94226;94227 | chr2:178534911;178534910;178534909 | chr2:179399638;179399637;179399636 |
| N2B | 24837 | 74734;74735;74736 | chr2:178534911;178534910;178534909 | chr2:179399638;179399637;179399636 |
| Novex-1 | 24962 | 75109;75110;75111 | chr2:178534911;178534910;178534909 | chr2:179399638;179399637;179399636 |
| Novex-2 | 25029 | 75310;75311;75312 | chr2:178534911;178534910;178534909 | chr2:179399638;179399637;179399636 |
| 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: 90
- Q(SASA): 0.1095
- 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/K | rs762592218  |
-0.665 | None | N | None | 0.256 | 0.18274738541 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| E/K | rs762592218 |
-0.665 | None | N | None | 0.256 | 0.18274738541 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/K | rs762592218 |
-0.665 | None | N | None | 0.256 | 0.18274738541 | gnomAD-4.0.0 | 2.48411E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69518E-06 | 1.09827E-05 | 1.60164E-05 |
| E/Q | rs762592218 |
-1.078 | None | N | None | 0.285 | 0.256283259241 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| E/Q | rs762592218 |
-1.078 | None | N | None | 0.285 | 0.256283259241 | gnomAD-4.0.0 | 4.11508E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59784E-06 | 2.31949E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.6795 | likely_pathogenic | 0.6763 | pathogenic | -0.961 | Destabilizing | None | None | None | None | N | 0.457421982 | None | None | N |
| E/C | 0.9752 | likely_pathogenic | 0.9739 | pathogenic | -0.343 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.6889 | likely_pathogenic | 0.6904 | pathogenic | -1.123 | Destabilizing | None | None | None | None | N | 0.375379389 | None | None | N |
| E/F | 0.9836 | likely_pathogenic | 0.9834 | pathogenic | -0.263 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.572 | likely_pathogenic | 0.548 | ambiguous | -1.382 | Destabilizing | None | None | None | None | N | 0.471428642 | None | None | N |
| E/H | 0.91 | likely_pathogenic | 0.9105 | pathogenic | -0.465 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.9556 | likely_pathogenic | 0.9513 | pathogenic | 0.212 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.7406 | likely_pathogenic | 0.6846 | pathogenic | -0.536 | Destabilizing | None | None | None | None | N | 0.440567018 | None | None | N |
| E/L | 0.9191 | likely_pathogenic | 0.9122 | pathogenic | 0.212 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.9509 | likely_pathogenic | 0.943 | pathogenic | 0.848 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.884 | likely_pathogenic | 0.8801 | pathogenic | -1.204 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.9693 | likely_pathogenic | 0.9635 | pathogenic | -0.159 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.4638 | ambiguous | 0.4457 | ambiguous | -0.989 | Destabilizing | None | None | None | None | N | 0.408417314 | None | None | N |
| E/R | 0.7549 | likely_pathogenic | 0.727 | pathogenic | -0.279 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.6895 | likely_pathogenic | 0.6805 | pathogenic | -1.583 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.8308 | likely_pathogenic | 0.829 | pathogenic | -1.209 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.8772 | likely_pathogenic | 0.865 | pathogenic | -0.159 | Destabilizing | None | None | None | None | N | 0.504079779 | None | None | N |
| E/W | 0.9916 | likely_pathogenic | 0.9904 | pathogenic | 0.034 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.9635 | likely_pathogenic | 0.9628 | pathogenic | 0.029 | 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.