Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34110 | 102553;102554;102555 | chr2:178534287;178534286;178534285 | chr2:179399014;179399013;179399012 |
| N2AB | 32469 | 97630;97631;97632 | chr2:178534287;178534286;178534285 | chr2:179399014;179399013;179399012 |
| N2A | 31542 | 94849;94850;94851 | chr2:178534287;178534286;178534285 | chr2:179399014;179399013;179399012 |
| N2B | 25045 | 75358;75359;75360 | chr2:178534287;178534286;178534285 | chr2:179399014;179399013;179399012 |
| Novex-1 | 25170 | 75733;75734;75735 | chr2:178534287;178534286;178534285 | chr2:179399014;179399013;179399012 |
| Novex-2 | 25237 | 75934;75935;75936 | chr2:178534287;178534286;178534285 | chr2:179399014;179399013;179399012 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: R
- RefSeq wild type transcript codon: CGG
- RefSeq wild type template codon: GCC
- Domain: Kinase-1
- Domain position: 298
- Q(SASA): 0.1343
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs565347600  |
-0.843 | None | N | None | 0.402 | 0.312001716656 | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 1.30719E-04 | None | 4.66E-05 | 1.78E-05 | 0 |
| R/Q | rs565347600 |
-0.843 | None | N | None | 0.402 | 0.312001716656 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 2.06782E-04 | 0 |
| R/Q | rs565347600 |
-0.843 | None | N | None | 0.402 | 0.312001716656 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| R/Q | rs565347600 |
-0.843 | None | N | None | 0.402 | 0.312001716656 | gnomAD-4.0.0 | 1.61106E-05 | None | None | None | None | N | None | 1.33262E-05 | 1.66661E-05 | None | 0 | 0 | None | 1.56372E-05 | 0 | 5.93306E-06 | 1.64676E-04 | 1.60041E-05 |
| R/W | rs754873937 |
-0.596 | None | N | None | 0.427 | 0.392239652056 | gnomAD-2.1.1 | 4.29E-05 | None | None | None | None | N | None | 1.24008E-04 | 0 | None | 0 | 4.61018E-04 | None | 0 | None | 0 | 0 | 0 |
| R/W | rs754873937 |
-0.596 | None | N | None | 0.427 | 0.392239652056 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 1.20691E-04 | 0 | 0 | 0 | 5.76923E-04 | None | 0 | 0 | 0 | 0 | 0 |
| R/W | rs754873937 |
-0.596 | None | N | None | 0.427 | 0.392239652056 | gnomAD-4.0.0 | 1.48729E-05 | None | None | None | None | N | None | 1.33511E-04 | 0 | None | 0 | 1.11368E-04 | None | 0 | 0 | 6.78063E-06 | 0 | 1.60087E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9175 | likely_pathogenic | 0.8672 | pathogenic | -1.394 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/C | 0.6767 | likely_pathogenic | 0.6247 | pathogenic | -1.267 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/D | 0.9773 | likely_pathogenic | 0.9555 | pathogenic | -0.437 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/E | 0.8581 | likely_pathogenic | 0.7962 | pathogenic | -0.238 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/F | 0.9606 | likely_pathogenic | 0.9455 | pathogenic | -0.834 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/G | 0.8504 | likely_pathogenic | 0.7607 | pathogenic | -1.784 | Destabilizing | None | None | None | None | N | 0.458905715 | None | None | N |
| R/H | 0.469 | ambiguous | 0.427 | ambiguous | -1.869 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/I | 0.8768 | likely_pathogenic | 0.8204 | pathogenic | -0.299 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/K | 0.32 | likely_benign | 0.3175 | benign | -1.112 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/L | 0.7973 | likely_pathogenic | 0.7319 | pathogenic | -0.299 | Destabilizing | None | None | None | None | N | 0.458905715 | None | None | N |
| R/M | 0.8775 | likely_pathogenic | 0.8055 | pathogenic | -0.643 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/N | 0.9598 | likely_pathogenic | 0.9334 | pathogenic | -0.907 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/P | 0.9801 | likely_pathogenic | 0.9652 | pathogenic | -0.646 | Destabilizing | None | None | None | None | N | 0.459599149 | None | None | N |
| R/Q | 0.3802 | ambiguous | 0.3334 | benign | -0.878 | Destabilizing | None | None | None | None | N | 0.458558999 | None | None | N |
| R/S | 0.9443 | likely_pathogenic | 0.9096 | pathogenic | -1.791 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/T | 0.8919 | likely_pathogenic | 0.8247 | pathogenic | -1.36 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/V | 0.8875 | likely_pathogenic | 0.8527 | pathogenic | -0.646 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/W | 0.7658 | likely_pathogenic | 0.6749 | pathogenic | -0.359 | Destabilizing | None | None | None | None | N | 0.459945865 | None | None | N |
| R/Y | 0.9149 | likely_pathogenic | 0.8821 | pathogenic | -0.159 | 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.