Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34048 | 102367;102368;102369 | chr2:178534473;178534472;178534471 | chr2:179399200;179399199;179399198 |
| N2AB | 32407 | 97444;97445;97446 | chr2:178534473;178534472;178534471 | chr2:179399200;179399199;179399198 |
| N2A | 31480 | 94663;94664;94665 | chr2:178534473;178534472;178534471 | chr2:179399200;179399199;179399198 |
| N2B | 24983 | 75172;75173;75174 | chr2:178534473;178534472;178534471 | chr2:179399200;179399199;179399198 |
| Novex-1 | 25108 | 75547;75548;75549 | chr2:178534473;178534472;178534471 | chr2:179399200;179399199;179399198 |
| Novex-2 | 25175 | 75748;75749;75750 | chr2:178534473;178534472;178534471 | chr2:179399200;179399199;179399198 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: D
- RefSeq wild type transcript codon: GAT
- RefSeq wild type template codon: CTA
- Domain: Kinase-1
- Domain position: 236
- Q(SASA): 0.2898
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | None | None | None | N | None | 0.454 | 0.299427821978 | gnomAD-4.0.0 | 6.84318E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99454E-07 | 0 | 0 |
| D/N | rs778467259  |
-1.255 | None | N | None | 0.347 | 0.342865806769 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11284E-04 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs778467259 |
-1.255 | None | N | None | 0.347 | 0.342865806769 | gnomAD-4.0.0 | 3.18391E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.54508E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs778467259 |
0.024 | None | N | None | 0.516 | 0.54249775568 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14705E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/Y | rs778467259 |
0.024 | None | N | None | 0.516 | 0.54249775568 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs778467259 |
0.024 | None | N | None | 0.516 | 0.54249775568 | gnomAD-4.0.0 | 6.56918E-06 | None | None | None | None | N | None | 2.41208E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8537 | likely_pathogenic | 0.7938 | pathogenic | -0.319 | Destabilizing | None | None | None | None | N | 0.514144844 | None | None | N |
| D/C | 0.9857 | likely_pathogenic | 0.9763 | pathogenic | -0.282 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/E | 0.7881 | likely_pathogenic | 0.7368 | pathogenic | -1.004 | Destabilizing | None | None | None | None | N | 0.494153573 | None | None | N |
| D/F | 0.9825 | likely_pathogenic | 0.97 | pathogenic | -0.093 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/G | 0.866 | likely_pathogenic | 0.8187 | pathogenic | -0.727 | Destabilizing | None | None | None | None | N | 0.463750872 | None | None | N |
| D/H | 0.9329 | likely_pathogenic | 0.8954 | pathogenic | -0.635 | Destabilizing | None | None | None | None | N | 0.512144688 | None | None | N |
| D/I | 0.966 | likely_pathogenic | 0.946 | pathogenic | 0.772 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/K | 0.9626 | likely_pathogenic | 0.9397 | pathogenic | -0.972 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/L | 0.9447 | likely_pathogenic | 0.9131 | pathogenic | 0.772 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/M | 0.9896 | likely_pathogenic | 0.9837 | pathogenic | 1.33 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/N | 0.6593 | likely_pathogenic | 0.5779 | pathogenic | -1.397 | Destabilizing | None | None | None | None | N | 0.49450029 | None | None | N |
| D/P | 0.9933 | likely_pathogenic | 0.9897 | pathogenic | 0.436 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/Q | 0.9505 | likely_pathogenic | 0.9272 | pathogenic | -1.1 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/R | 0.9546 | likely_pathogenic | 0.9326 | pathogenic | -0.922 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/S | 0.7993 | likely_pathogenic | 0.7224 | pathogenic | -1.693 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/T | 0.9249 | likely_pathogenic | 0.8895 | pathogenic | -1.354 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/V | 0.9002 | likely_pathogenic | 0.8523 | pathogenic | 0.436 | Stabilizing | None | None | None | None | N | 0.504518513 | None | None | N |
| D/W | 0.995 | likely_pathogenic | 0.9919 | pathogenic | -0.199 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/Y | 0.8564 | likely_pathogenic | 0.7778 | pathogenic | 0.033 | Stabilizing | None | None | None | None | N | 0.504518513 | 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.