Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34022 | 102289;102290;102291 | chr2:178534551;178534550;178534549 | chr2:179399278;179399277;179399276 |
| N2AB | 32381 | 97366;97367;97368 | chr2:178534551;178534550;178534549 | chr2:179399278;179399277;179399276 |
| N2A | 31454 | 94585;94586;94587 | chr2:178534551;178534550;178534549 | chr2:179399278;179399277;179399276 |
| N2B | 24957 | 75094;75095;75096 | chr2:178534551;178534550;178534549 | chr2:179399278;179399277;179399276 |
| Novex-1 | 25082 | 75469;75470;75471 | chr2:178534551;178534550;178534549 | chr2:179399278;179399277;179399276 |
| Novex-2 | 25149 | 75670;75671;75672 | chr2:178534551;178534550;178534549 | chr2:179399278;179399277;179399276 |
| 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: 210
- Q(SASA): 0.3973
- 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 | None | None | None | N | None | 0.215 | 0.165133752707 | gnomAD-4.0.0 | 2.73679E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59783E-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 | 0.3246 | likely_benign | 0.3058 | benign | -0.369 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/C | 0.8954 | likely_pathogenic | 0.8805 | pathogenic | -0.032 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/D | 0.5337 | ambiguous | 0.5047 | ambiguous | -1.269 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/E | 0.1266 | likely_benign | 0.111 | benign | -1.21 | Destabilizing | None | None | None | None | N | 0.35577856 | None | None | N |
| Q/F | 0.9049 | likely_pathogenic | 0.8889 | pathogenic | -0.417 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/G | 0.4506 | ambiguous | 0.404 | ambiguous | -0.67 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/H | 0.4946 | ambiguous | 0.4581 | ambiguous | -0.852 | Destabilizing | None | None | None | None | N | 0.487863185 | None | None | N |
| Q/I | 0.6612 | likely_pathogenic | 0.6244 | pathogenic | 0.371 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/K | 0.1534 | likely_benign | 0.1235 | benign | -0.305 | Destabilizing | None | None | None | None | N | 0.435298137 | None | None | N |
| Q/L | 0.3068 | likely_benign | 0.2819 | benign | 0.371 | Stabilizing | None | None | None | None | N | 0.446016563 | None | None | N |
| Q/M | 0.4977 | ambiguous | 0.4691 | ambiguous | 0.901 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/N | 0.4399 | ambiguous | 0.4037 | ambiguous | -0.887 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/P | 0.685 | likely_pathogenic | 0.6312 | pathogenic | 0.155 | Stabilizing | None | None | None | None | N | 0.482014648 | None | None | N |
| Q/R | 0.2178 | likely_benign | 0.1939 | benign | -0.211 | Destabilizing | None | None | None | None | N | 0.462562096 | None | None | N |
| Q/S | 0.4289 | ambiguous | 0.387 | ambiguous | -0.846 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/T | 0.3361 | likely_benign | 0.2951 | benign | -0.619 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/V | 0.4786 | ambiguous | 0.4578 | ambiguous | 0.155 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/W | 0.8973 | likely_pathogenic | 0.8767 | pathogenic | -0.414 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/Y | 0.7945 | likely_pathogenic | 0.7587 | pathogenic | -0.083 | 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.