Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33964 | 102115;102116;102117 | chr2:178534725;178534724;178534723 | chr2:179399452;179399451;179399450 |
| N2AB | 32323 | 97192;97193;97194 | chr2:178534725;178534724;178534723 | chr2:179399452;179399451;179399450 |
| N2A | 31396 | 94411;94412;94413 | chr2:178534725;178534724;178534723 | chr2:179399452;179399451;179399450 |
| N2B | 24899 | 74920;74921;74922 | chr2:178534725;178534724;178534723 | chr2:179399452;179399451;179399450 |
| Novex-1 | 25024 | 75295;75296;75297 | chr2:178534725;178534724;178534723 | chr2:179399452;179399451;179399450 |
| Novex-2 | 25091 | 75496;75497;75498 | chr2:178534725;178534724;178534723 | chr2:179399452;179399451;179399450 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: R
- RefSeq wild type transcript codon: CGT
- RefSeq wild type template codon: GCA
- Domain: Kinase-1
- Domain position: 152
- Q(SASA): 0.179
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs779064623  |
-1.622 | None | N | None | 0.335 | None | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 8.88E-06 | 0 |
| R/C | rs779064623 |
-1.622 | None | N | None | 0.335 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| R/C | rs779064623 |
-1.622 | None | N | None | 0.335 | None | gnomAD-4.0.0 | 1.23943E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.56294E-05 | 0 | 1.61047E-05 | 0 | 0 |
| R/G | rs779064623 |
-2.114 | None | N | None | 0.307 | 0.300449992093 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/G | rs779064623 |
-2.114 | None | N | None | 0.307 | 0.300449992093 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/G | rs779064623 |
-2.114 | None | N | None | 0.307 | 0.300449992093 | gnomAD-4.0.0 | 6.57471E-06 | None | None | None | None | N | None | 2.41581E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/H | rs55669553 |
-1.868 | None | N | None | 0.089 | None | gnomAD-2.1.1 | 3.45492E-03 | None | None | None | None | N | None | 1.24049E-04 | 7.92842E-04 | None | 1.06321E-03 | 0 | None | 2.21895E-02 | None | 4E-05 | 1.74861E-03 | 3.08642E-03 |
| R/H | rs55669553 |
-1.868 | None | N | None | 0.089 | None | gnomAD-3.1.2 | 1.77468E-03 | None | None | None | None | N | None | 2.17286E-04 | 1.70224E-03 | 0 | 8.64553E-04 | 0 | None | 0 | 0 | 1.67593E-03 | 2.37997E-02 | 1.43541E-03 |
| R/H | rs55669553 |
-1.868 | None | N | None | 0.089 | None | 1000 genomes | 5.99042E-03 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 2E-03 | None | None | None | 2.76E-02 | None |
| R/H | rs55669553 |
-1.868 | None | N | None | 0.089 | None | gnomAD-4.0.0 | 2.20038E-03 | None | None | None | None | N | None | 2.79963E-04 | 9.66473E-04 | None | 8.44652E-04 | 6.68598E-05 | None | 6.25059E-05 | 4.61894E-03 | 1.0824E-03 | 2.1595E-02 | 2.68869E-03 |
| R/L | None | None | None | N | None | 0.266 | 0.286081765059 | gnomAD-4.0.0 | 1.36841E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79894E-06 | 0 | 0 |
| R/S | None | -2.182 | None | N | None | 0.26 | None | gnomAD-2.1.1 | 5.71E-05 | None | None | None | None | N | None | 4.14E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.17098E-04 | 0 |
| R/S | None | -2.182 | None | N | None | 0.26 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| R/S | None | -2.182 | None | N | None | 0.26 | None | gnomAD-4.0.0 | 8.42812E-05 | None | None | None | None | N | None | 2.67158E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.11885E-04 | 0 | 3.20184E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9055 | likely_pathogenic | 0.9112 | pathogenic | -1.658 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/C | 0.5614 | ambiguous | 0.5976 | pathogenic | -1.7 | Destabilizing | None | None | None | None | N | 0.474357091 | None | None | N |
| R/D | 0.9766 | likely_pathogenic | 0.9769 | pathogenic | -0.745 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/E | 0.8634 | likely_pathogenic | 0.8739 | pathogenic | -0.524 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/F | 0.9348 | likely_pathogenic | 0.939 | pathogenic | -1.079 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/G | 0.8633 | likely_pathogenic | 0.8554 | pathogenic | -2.008 | Highly Destabilizing | None | None | None | None | N | 0.50300513 | None | None | N |
| R/H | 0.4126 | ambiguous | 0.5067 | ambiguous | -1.753 | Destabilizing | None | None | None | None | N | 0.511797972 | None | None | N |
| R/I | 0.7991 | likely_pathogenic | 0.8313 | pathogenic | -0.655 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/K | 0.3594 | ambiguous | 0.4033 | ambiguous | -0.962 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/L | 0.7487 | likely_pathogenic | 0.7632 | pathogenic | -0.655 | Destabilizing | None | None | None | None | N | 0.502138338 | None | None | N |
| R/M | 0.8466 | likely_pathogenic | 0.8614 | pathogenic | -1.156 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/N | 0.9472 | likely_pathogenic | 0.9506 | pathogenic | -1.244 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/P | 0.9745 | likely_pathogenic | 0.9719 | pathogenic | -0.976 | Destabilizing | None | None | None | None | N | 0.487286404 | None | None | N |
| R/Q | 0.3535 | ambiguous | 0.4151 | ambiguous | -1.149 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/S | 0.9258 | likely_pathogenic | 0.9309 | pathogenic | -2.128 | Highly Destabilizing | None | None | None | None | N | 0.453461744 | None | None | N |
| R/T | 0.8192 | likely_pathogenic | 0.8531 | pathogenic | -1.675 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/V | 0.8323 | likely_pathogenic | 0.8639 | pathogenic | -0.976 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/W | 0.6836 | likely_pathogenic | 0.7053 | pathogenic | -0.618 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/Y | 0.8791 | likely_pathogenic | 0.8903 | pathogenic | -0.484 | 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.