Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34069 | 102430;102431;102432 | chr2:178534410;178534409;178534408 | chr2:179399137;179399136;179399135 |
| N2AB | 32428 | 97507;97508;97509 | chr2:178534410;178534409;178534408 | chr2:179399137;179399136;179399135 |
| N2A | 31501 | 94726;94727;94728 | chr2:178534410;178534409;178534408 | chr2:179399137;179399136;179399135 |
| N2B | 25004 | 75235;75236;75237 | chr2:178534410;178534409;178534408 | chr2:179399137;179399136;179399135 |
| Novex-1 | 25129 | 75610;75611;75612 | chr2:178534410;178534409;178534408 | chr2:179399137;179399136;179399135 |
| Novex-2 | 25196 | 75811;75812;75813 | chr2:178534410;178534409;178534408 | chr2:179399137;179399136;179399135 |
| 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: 257
- Q(SASA): 0.3505
- 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/R | rs780466011  |
0.331 | None | N | None | 0.127 | 0.18274738541 | gnomAD-2.1.1 | 8.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| Q/R | rs780466011 |
0.331 | None | N | None | 0.127 | 0.18274738541 | gnomAD-4.0.0 | 2.05596E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69835E-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 | 0.2606 | likely_benign | 0.2399 | benign | -0.433 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/C | 0.7282 | likely_pathogenic | 0.6379 | pathogenic | 0.161 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/D | 0.4188 | ambiguous | 0.3725 | ambiguous | -0.012 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/E | 0.1149 | likely_benign | 0.1125 | benign | 0.001 | Stabilizing | None | None | None | None | N | 0.419000533 | None | None | N |
| Q/F | 0.781 | likely_pathogenic | 0.6977 | pathogenic | -0.407 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/G | 0.3101 | likely_benign | 0.2704 | benign | -0.693 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/H | 0.3355 | likely_benign | 0.2879 | benign | -0.617 | Destabilizing | None | None | None | None | N | 0.508430458 | None | None | N |
| Q/I | 0.5558 | ambiguous | 0.4688 | ambiguous | 0.185 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/K | 0.1653 | likely_benign | 0.1386 | benign | -0.108 | Destabilizing | None | None | None | None | N | 0.442530753 | None | None | N |
| Q/L | 0.202 | likely_benign | 0.1686 | benign | 0.185 | Stabilizing | None | None | None | None | N | 0.489922056 | None | None | N |
| Q/M | 0.4746 | ambiguous | 0.4056 | ambiguous | 0.569 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/N | 0.2827 | likely_benign | 0.2372 | benign | -0.493 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/P | 0.6834 | likely_pathogenic | 0.6709 | pathogenic | 0.01 | Stabilizing | None | None | None | None | N | 0.495340795 | None | None | N |
| Q/R | 0.1657 | likely_benign | 0.1355 | benign | -0.002 | Destabilizing | None | None | None | None | N | 0.463196814 | None | None | N |
| Q/S | 0.2147 | likely_benign | 0.1935 | benign | -0.541 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/T | 0.2724 | likely_benign | 0.2361 | benign | -0.352 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/V | 0.3983 | ambiguous | 0.3421 | ambiguous | 0.01 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/W | 0.7478 | likely_pathogenic | 0.663 | pathogenic | -0.313 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/Y | 0.5833 | likely_pathogenic | 0.4921 | ambiguous | -0.099 | 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.