Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34113 | 102562;102563;102564 | chr2:178534278;178534277;178534276 | chr2:179399005;179399004;179399003 |
| N2AB | 32472 | 97639;97640;97641 | chr2:178534278;178534277;178534276 | chr2:179399005;179399004;179399003 |
| N2A | 31545 | 94858;94859;94860 | chr2:178534278;178534277;178534276 | chr2:179399005;179399004;179399003 |
| N2B | 25048 | 75367;75368;75369 | chr2:178534278;178534277;178534276 | chr2:179399005;179399004;179399003 |
| Novex-1 | 25173 | 75742;75743;75744 | chr2:178534278;178534277;178534276 | chr2:179399005;179399004;179399003 |
| Novex-2 | 25240 | 75943;75944;75945 | chr2:178534278;178534277;178534276 | chr2:179399005;179399004;179399003 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: C
- RefSeq wild type transcript codon: TGT
- RefSeq wild type template codon: ACA
- Domain: Kinase-1
- Domain position: 301
- Q(SASA): 0.2576
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/W | rs794729561  |
None | None | N | None | 0.308 | 0.362758974969 | gnomAD-4.0.0 | 1.59107E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85781E-06 | 0 | 0 |
| C/Y | None | None | None | N | None | 0.23 | 0.384419519794 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.362 | ambiguous | 0.4202 | ambiguous | -1.511 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/D | 0.6883 | likely_pathogenic | 0.7682 | pathogenic | 0.084 | Stabilizing | None | None | None | None | None | None | None | None | N |
| C/E | 0.7921 | likely_pathogenic | 0.825 | pathogenic | 0.141 | Stabilizing | None | None | None | None | None | None | None | None | N |
| C/F | 0.222 | likely_benign | 0.2461 | benign | -1.205 | Destabilizing | None | None | None | None | N | 0.425982433 | None | None | N |
| C/G | 0.1715 | likely_benign | 0.2397 | benign | -1.758 | Destabilizing | None | None | None | None | N | 0.425462358 | None | None | N |
| C/H | 0.4632 | ambiguous | 0.5048 | ambiguous | -1.865 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/I | 0.6071 | likely_pathogenic | 0.6481 | pathogenic | -0.907 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/K | 0.797 | likely_pathogenic | 0.8277 | pathogenic | -0.442 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/L | 0.5034 | ambiguous | 0.5225 | ambiguous | -0.907 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/M | 0.616 | likely_pathogenic | 0.6489 | pathogenic | -0.321 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/N | 0.3803 | ambiguous | 0.4549 | ambiguous | -0.309 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/P | 0.8579 | likely_pathogenic | 0.9219 | pathogenic | -1.083 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/Q | 0.5703 | likely_pathogenic | 0.6391 | pathogenic | -0.329 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/R | 0.4826 | ambiguous | 0.5063 | ambiguous | -0.338 | Destabilizing | None | None | None | None | N | 0.424942283 | None | None | N |
| C/S | 0.2141 | likely_benign | 0.2672 | benign | -0.854 | Destabilizing | None | None | None | None | N | 0.423728775 | None | None | N |
| C/T | 0.3909 | ambiguous | 0.4627 | ambiguous | -0.624 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/V | 0.4871 | ambiguous | 0.549 | ambiguous | -1.083 | Destabilizing | None | None | None | None | None | None | None | None | N |
| C/W | 0.4547 | ambiguous | 0.5338 | ambiguous | -1.134 | Destabilizing | None | None | None | None | N | 0.42632915 | None | None | N |
| C/Y | 0.2837 | likely_benign | 0.2979 | benign | -1.073 | Destabilizing | None | None | None | None | N | 0.407049956 | 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.