Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33922 | 101989;101990;101991 | chr2:178534851;178534850;178534849 | chr2:179399578;179399577;179399576 |
| N2AB | 32281 | 97066;97067;97068 | chr2:178534851;178534850;178534849 | chr2:179399578;179399577;179399576 |
| N2A | 31354 | 94285;94286;94287 | chr2:178534851;178534850;178534849 | chr2:179399578;179399577;179399576 |
| N2B | 24857 | 74794;74795;74796 | chr2:178534851;178534850;178534849 | chr2:179399578;179399577;179399576 |
| Novex-1 | 24982 | 75169;75170;75171 | chr2:178534851;178534850;178534849 | chr2:179399578;179399577;179399576 |
| Novex-2 | 25049 | 75370;75371;75372 | chr2:178534851;178534850;178534849 | chr2:179399578;179399577;179399576 |
| 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: 110
- Q(SASA): 0.078
- 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 | rs55886356  |
-1.238 | None | N | None | 0.417 | 0.350307294319 | gnomAD-2.1.1 | 7.06851E-03 | None | None | None | None | N | None | 1.90903E-03 | 1.02232E-02 | None | 1.54739E-03 | 0 | None | 1.73339E-03 | None | 7.91287E-04 | 1.08886E-02 | 9.4446E-03 |
| Q/H | rs55886356 |
-1.238 | None | N | None | 0.417 | 0.350307294319 | gnomAD-3.1.2 | 7.54697E-03 | None | None | None | None | N | None | 2.34232E-03 | 1.78197E-02 | 0 | 0 | 0 | None | 4.71698E-04 | 1.89873E-02 | 1.08916E-02 | 1.24327E-03 | 1.00382E-02 |
| Q/H | rs55886356 |
-1.238 | None | N | None | 0.417 | 0.350307294319 | 1000 genomes | 4.59265E-03 | None | None | None | None | N | None | 0 | 1.15E-02 | None | None | 0 | 1.49E-02 | None | None | None | 0 | None |
| Q/H | rs55886356 |
-1.238 | None | N | None | 0.417 | 0.350307294319 | gnomAD-4.0.0 | 1.00219E-02 | None | None | None | None | N | None | 2.01344E-03 | 1.24667E-02 | None | 1.31748E-03 | 0 | None | 1.18419E-03 | 1.22112E-02 | 1.21003E-02 | 2.0972E-03 | 9.20766E-03 |
| Q/R | None | None | None | N | None | 0.46 | 0.245101548738 | gnomAD-4.0.0 | 6.86511E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99457E-07 | 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 | 0.5981 | likely_pathogenic | 0.6017 | pathogenic | -0.464 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/C | 0.9708 | likely_pathogenic | 0.9673 | pathogenic | -0.446 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/D | 0.7412 | likely_pathogenic | 0.7446 | pathogenic | -2.24 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/E | 0.2019 | likely_benign | 0.199 | benign | -2.0 | Highly Destabilizing | None | None | None | None | N | 0.509971175 | None | None | N |
| Q/F | 0.981 | likely_pathogenic | 0.9814 | pathogenic | -0.26 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/G | 0.6759 | likely_pathogenic | 0.6599 | pathogenic | -0.86 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/H | 0.7743 | likely_pathogenic | 0.7672 | pathogenic | -1.071 | Destabilizing | None | None | None | None | N | 0.491622179 | None | None | N |
| Q/I | 0.915 | likely_pathogenic | 0.9104 | pathogenic | 0.583 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/K | 0.4252 | ambiguous | 0.3934 | ambiguous | -0.447 | Destabilizing | None | None | None | None | N | 0.486253355 | None | None | N |
| Q/L | 0.646 | likely_pathogenic | 0.6246 | pathogenic | 0.583 | Stabilizing | None | None | None | None | N | 0.516981363 | None | None | N |
| Q/M | 0.7768 | likely_pathogenic | 0.7781 | pathogenic | 0.693 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/N | 0.7173 | likely_pathogenic | 0.7225 | pathogenic | -1.361 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/P | 0.9577 | likely_pathogenic | 0.9407 | pathogenic | 0.262 | Stabilizing | None | None | None | None | N | 0.48544366 | None | None | N |
| Q/R | 0.5161 | ambiguous | 0.4851 | ambiguous | -0.796 | Destabilizing | None | None | None | None | N | 0.482721409 | None | None | N |
| Q/S | 0.5818 | likely_pathogenic | 0.6087 | pathogenic | -1.366 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/T | 0.635 | likely_pathogenic | 0.6585 | pathogenic | -0.966 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/V | 0.8525 | likely_pathogenic | 0.8452 | pathogenic | 0.262 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/W | 0.9852 | likely_pathogenic | 0.9829 | pathogenic | -0.664 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/Y | 0.9639 | likely_pathogenic | 0.9637 | pathogenic | -0.121 | 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.