Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34003 | 102232;102233;102234 | chr2:178534608;178534607;178534606 | chr2:179399335;179399334;179399333 |
| N2AB | 32362 | 97309;97310;97311 | chr2:178534608;178534607;178534606 | chr2:179399335;179399334;179399333 |
| N2A | 31435 | 94528;94529;94530 | chr2:178534608;178534607;178534606 | chr2:179399335;179399334;179399333 |
| N2B | 24938 | 75037;75038;75039 | chr2:178534608;178534607;178534606 | chr2:179399335;179399334;179399333 |
| Novex-1 | 25063 | 75412;75413;75414 | chr2:178534608;178534607;178534606 | chr2:179399335;179399334;179399333 |
| Novex-2 | 25130 | 75613;75614;75615 | chr2:178534608;178534607;178534606 | chr2:179399335;179399334;179399333 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: T
- RefSeq wild type transcript codon: ACA
- RefSeq wild type template codon: TGT
- Domain: Kinase-1
- Domain position: 191
- Q(SASA): 0.073
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/P | None | None | None | N | None | 0.455 | 0.467501455318 | gnomAD-4.0.0 | 1.36845E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79902E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2299 | likely_benign | 0.24 | benign | -1.701 | Destabilizing | None | None | None | None | N | 0.402281641 | None | None | N |
| T/C | 0.6462 | likely_pathogenic | 0.6459 | pathogenic | -0.932 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/D | 0.9617 | likely_pathogenic | 0.9568 | pathogenic | -2.33 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| T/E | 0.9232 | likely_pathogenic | 0.9192 | pathogenic | -2.008 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| T/F | 0.8275 | likely_pathogenic | 0.8029 | pathogenic | -1.1 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/G | 0.7161 | likely_pathogenic | 0.7257 | pathogenic | -2.116 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| T/H | 0.8726 | likely_pathogenic | 0.8607 | pathogenic | -1.776 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/I | 0.5445 | ambiguous | 0.4973 | ambiguous | -0.527 | Destabilizing | None | None | None | None | N | 0.367760849 | None | None | N |
| T/K | 0.9007 | likely_pathogenic | 0.8848 | pathogenic | -0.446 | Destabilizing | None | None | None | None | N | 0.500560337 | None | None | N |
| T/L | 0.3823 | ambiguous | 0.3647 | ambiguous | -0.527 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/M | 0.3284 | likely_benign | 0.3261 | benign | -0.974 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/N | 0.6287 | likely_pathogenic | 0.6076 | pathogenic | -1.482 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/P | 0.8077 | likely_pathogenic | 0.8123 | pathogenic | -0.901 | Destabilizing | None | None | None | None | N | 0.500560337 | None | None | N |
| T/Q | 0.8462 | likely_pathogenic | 0.8348 | pathogenic | -0.964 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/R | 0.8762 | likely_pathogenic | 0.8597 | pathogenic | -0.981 | Destabilizing | None | None | None | None | N | 0.481974576 | None | None | N |
| T/S | 0.4094 | ambiguous | 0.3912 | ambiguous | -1.654 | Destabilizing | None | None | None | None | N | 0.470410788 | None | None | N |
| T/V | 0.3017 | likely_benign | 0.2761 | benign | -0.901 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/W | 0.9783 | likely_pathogenic | 0.9767 | pathogenic | -1.292 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Y | 0.8673 | likely_pathogenic | 0.8518 | pathogenic | -1.004 | 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.