Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33816 | 101671;101672;101673 | chr2:178535169;178535168;178535167 | chr2:179399896;179399895;179399894 |
| N2AB | 32175 | 96748;96749;96750 | chr2:178535169;178535168;178535167 | chr2:179399896;179399895;179399894 |
| N2A | 31248 | 93967;93968;93969 | chr2:178535169;178535168;178535167 | chr2:179399896;179399895;179399894 |
| N2B | 24751 | 74476;74477;74478 | chr2:178535169;178535168;178535167 | chr2:179399896;179399895;179399894 |
| Novex-1 | 24876 | 74851;74852;74853 | chr2:178535169;178535168;178535167 | chr2:179399896;179399895;179399894 |
| Novex-2 | 24943 | 75052;75053;75054 | chr2:178535169;178535168;178535167 | chr2:179399896;179399895;179399894 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: Y
- RefSeq wild type transcript codon: TAT
- RefSeq wild type template codon: ATA
- Domain: Kinase-1
- Domain position: 4
- Q(SASA): 0.3191
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | None | None | None | N | None | 0.287 | 0.357724736475 | gnomAD-4.0.0 | 1.36836E-06 | None | None | None | None | N | None | 2.98811E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99416E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.3498 | ambiguous | 0.5221 | ambiguous | -1.118 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/C | 0.14 | likely_benign | 0.2101 | benign | -0.55 | Destabilizing | None | None | None | None | N | 0.409860109 | None | None | N |
| Y/D | 0.2754 | likely_benign | 0.4063 | ambiguous | 0.732 | Stabilizing | None | None | None | None | N | 0.409340034 | None | None | N |
| Y/E | 0.4726 | ambiguous | 0.6289 | pathogenic | 0.775 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Y/F | 0.1321 | likely_benign | 0.145 | benign | -0.36 | Destabilizing | None | None | None | None | N | 0.408819959 | None | None | N |
| Y/G | 0.2466 | likely_benign | 0.3988 | ambiguous | -1.36 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/H | 0.1491 | likely_benign | 0.2038 | benign | -0.093 | Destabilizing | None | None | None | None | N | 0.390754273 | None | None | N |
| Y/I | 0.4944 | ambiguous | 0.6034 | pathogenic | -0.447 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/K | 0.4609 | ambiguous | 0.5883 | pathogenic | -0.396 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/L | 0.339 | likely_benign | 0.4313 | ambiguous | -0.447 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/M | 0.5341 | ambiguous | 0.6404 | pathogenic | -0.484 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/N | 0.1435 | likely_benign | 0.224 | benign | -0.747 | Destabilizing | None | None | None | None | N | 0.409166675 | None | None | N |
| Y/P | 0.4161 | ambiguous | 0.6326 | pathogenic | -0.656 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/Q | 0.3756 | ambiguous | 0.5042 | ambiguous | -0.564 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/R | 0.3264 | likely_benign | 0.4125 | ambiguous | -0.206 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/S | 0.1372 | likely_benign | 0.2374 | benign | -1.267 | Destabilizing | None | None | None | None | N | 0.390580915 | None | None | N |
| Y/T | 0.3023 | likely_benign | 0.4734 | ambiguous | -1.124 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/V | 0.35 | ambiguous | 0.4724 | ambiguous | -0.656 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/W | 0.381 | ambiguous | 0.4237 | ambiguous | -0.293 | 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.