Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34063 | 102412;102413;102414 | chr2:178534428;178534427;178534426 | chr2:179399155;179399154;179399153 |
| N2AB | 32422 | 97489;97490;97491 | chr2:178534428;178534427;178534426 | chr2:179399155;179399154;179399153 |
| N2A | 31495 | 94708;94709;94710 | chr2:178534428;178534427;178534426 | chr2:179399155;179399154;179399153 |
| N2B | 24998 | 75217;75218;75219 | chr2:178534428;178534427;178534426 | chr2:179399155;179399154;179399153 |
| Novex-1 | 25123 | 75592;75593;75594 | chr2:178534428;178534427;178534426 | chr2:179399155;179399154;179399153 |
| Novex-2 | 25190 | 75793;75794;75795 | chr2:178534428;178534427;178534426 | chr2:179399155;179399154;179399153 |
| 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: 251
- Q(SASA): 0.1942
- 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/I | None | None | None | N | None | 0.485 | 0.526539220858 | gnomAD-4.0.0 | 1.59526E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85817E-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 | 0.4377 | ambiguous | 0.3644 | ambiguous | -0.599 | Destabilizing | None | None | None | None | N | 0.466726613 | None | None | N |
| T/C | 0.9039 | likely_pathogenic | 0.864 | pathogenic | -0.061 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/D | 0.8283 | likely_pathogenic | 0.7672 | pathogenic | -0.377 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/E | 0.8117 | likely_pathogenic | 0.7455 | pathogenic | -0.416 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/F | 0.8743 | likely_pathogenic | 0.8037 | pathogenic | -0.777 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/G | 0.7299 | likely_pathogenic | 0.6815 | pathogenic | -0.817 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/H | 0.7552 | likely_pathogenic | 0.6752 | pathogenic | -1.11 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/I | 0.8292 | likely_pathogenic | 0.7588 | pathogenic | -0.114 | Destabilizing | None | None | None | None | N | 0.500087968 | None | None | N |
| T/K | 0.5844 | likely_pathogenic | 0.4602 | ambiguous | -0.698 | Destabilizing | None | None | None | None | N | 0.47362592 | None | None | N |
| T/L | 0.4848 | ambiguous | 0.4059 | ambiguous | -0.114 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/M | 0.413 | ambiguous | 0.352 | ambiguous | 0.289 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/N | 0.4213 | ambiguous | 0.3533 | ambiguous | -0.406 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/P | 0.5429 | ambiguous | 0.5024 | ambiguous | -0.245 | Destabilizing | None | None | None | None | N | 0.481134339 | None | None | N |
| T/Q | 0.6774 | likely_pathogenic | 0.5967 | pathogenic | -0.624 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/R | 0.591 | likely_pathogenic | 0.4739 | ambiguous | -0.379 | Destabilizing | None | None | None | None | N | 0.481134339 | None | None | N |
| T/S | 0.3561 | ambiguous | 0.2988 | benign | -0.592 | Destabilizing | None | None | None | None | N | 0.442375172 | None | None | N |
| T/V | 0.7013 | likely_pathogenic | 0.6286 | pathogenic | -0.245 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/W | 0.9675 | likely_pathogenic | 0.9534 | pathogenic | -0.771 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Y | 0.8398 | likely_pathogenic | 0.7675 | pathogenic | -0.556 | 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.