Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33857 | 101794;101795;101796 | chr2:178535046;178535045;178535044 | chr2:179399773;179399772;179399771 |
| N2AB | 32216 | 96871;96872;96873 | chr2:178535046;178535045;178535044 | chr2:179399773;179399772;179399771 |
| N2A | 31289 | 94090;94091;94092 | chr2:178535046;178535045;178535044 | chr2:179399773;179399772;179399771 |
| N2B | 24792 | 74599;74600;74601 | chr2:178535046;178535045;178535044 | chr2:179399773;179399772;179399771 |
| Novex-1 | 24917 | 74974;74975;74976 | chr2:178535046;178535045;178535044 | chr2:179399773;179399772;179399771 |
| Novex-2 | 24984 | 75175;75176;75177 | chr2:178535046;178535045;178535044 | chr2:179399773;179399772;179399771 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: Q
- RefSeq wild type transcript codon: CAG
- RefSeq wild type template codon: GTC
- Domain: Kinase-1
- Domain position: 45
- Q(SASA): 0.0954
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs1690812361  |
None | None | N | None | 0.291 | 0.262662153117 | gnomAD-4.0.0 | 1.36838E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 1.65651E-05 |
| Q/R | None | None | None | N | None | 0.198 | 0.187945064343 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.2505 | likely_benign | 0.3496 | ambiguous | -0.714 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/C | 0.8508 | likely_pathogenic | 0.8863 | pathogenic | -0.399 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/D | 0.625 | likely_pathogenic | 0.7747 | pathogenic | -1.454 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/E | 0.1197 | likely_benign | 0.1528 | benign | -1.294 | Destabilizing | None | None | None | None | N | 0.398201186 | None | None | N |
| Q/F | 0.8802 | likely_pathogenic | 0.9142 | pathogenic | -0.531 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/G | 0.4368 | ambiguous | 0.5783 | pathogenic | -1.093 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/H | 0.4132 | ambiguous | 0.523 | ambiguous | -1.061 | Destabilizing | None | None | None | None | N | 0.471026864 | None | None | N |
| Q/I | 0.5866 | likely_pathogenic | 0.659 | pathogenic | 0.273 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/K | 0.1194 | likely_benign | 0.168 | benign | -0.333 | Destabilizing | None | None | None | None | N | 0.401068133 | None | None | N |
| Q/L | 0.2614 | likely_benign | 0.3593 | ambiguous | 0.273 | Stabilizing | None | None | None | None | N | 0.447862002 | None | None | N |
| Q/M | 0.4922 | ambiguous | 0.5465 | ambiguous | 0.657 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/N | 0.4587 | ambiguous | 0.5773 | pathogenic | -1.104 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/P | 0.3941 | ambiguous | 0.6954 | pathogenic | -0.026 | Destabilizing | None | None | None | None | N | 0.459097716 | None | None | N |
| Q/R | 0.1365 | likely_benign | 0.1931 | benign | -0.382 | Destabilizing | None | None | None | None | N | 0.430737679 | None | None | N |
| Q/S | 0.3579 | ambiguous | 0.4641 | ambiguous | -1.202 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/T | 0.3008 | likely_benign | 0.3729 | ambiguous | -0.847 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/V | 0.4157 | ambiguous | 0.494 | ambiguous | -0.026 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/W | 0.814 | likely_pathogenic | 0.8895 | pathogenic | -0.503 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/Y | 0.7209 | likely_pathogenic | 0.8067 | pathogenic | -0.147 | 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.