Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34081 | 102466;102467;102468 | chr2:178534374;178534373;178534372 | chr2:179399101;179399100;179399099 |
| N2AB | 32440 | 97543;97544;97545 | chr2:178534374;178534373;178534372 | chr2:179399101;179399100;179399099 |
| N2A | 31513 | 94762;94763;94764 | chr2:178534374;178534373;178534372 | chr2:179399101;179399100;179399099 |
| N2B | 25016 | 75271;75272;75273 | chr2:178534374;178534373;178534372 | chr2:179399101;179399100;179399099 |
| Novex-1 | 25141 | 75646;75647;75648 | chr2:178534374;178534373;178534372 | chr2:179399101;179399100;179399099 |
| Novex-2 | 25208 | 75847;75848;75849 | chr2:178534374;178534373;178534372 | chr2:179399101;179399100;179399099 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: S
- RefSeq wild type transcript codon: AGT
- RefSeq wild type template codon: TCA
- Domain: Kinase-1
- Domain position: 269
- Q(SASA): 0.2559
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs752173730  |
-0.788 | None | N | None | 0.195 | 0.159798565429 | gnomAD-2.1.1 | 8.13E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| S/G | rs752173730 |
-0.788 | None | N | None | 0.195 | 0.159798565429 | gnomAD-4.0.0 | 1.59871E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85811E-06 | 0 | 0 |
| S/N | None | None | None | N | None | 0.21 | 0.16115917748 | gnomAD-4.0.0 | 6.85606E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51927E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1701 | likely_benign | 0.1579 | benign | -0.691 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/C | 0.2546 | likely_benign | 0.2409 | benign | -0.568 | Destabilizing | None | None | None | None | N | 0.440183016 | None | None | N |
| S/D | 0.8388 | likely_pathogenic | 0.883 | pathogenic | -0.383 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/E | 0.8559 | likely_pathogenic | 0.8706 | pathogenic | -0.443 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/F | 0.7983 | likely_pathogenic | 0.7874 | pathogenic | -1.147 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/G | 0.2109 | likely_benign | 0.2183 | benign | -0.847 | Destabilizing | None | None | None | None | N | 0.439489582 | None | None | N |
| S/H | 0.7355 | likely_pathogenic | 0.7606 | pathogenic | -1.383 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/I | 0.7442 | likely_pathogenic | 0.7104 | pathogenic | -0.395 | Destabilizing | None | None | None | None | N | 0.438796149 | None | None | N |
| S/K | 0.9239 | likely_pathogenic | 0.9337 | pathogenic | -0.69 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/L | 0.5062 | ambiguous | 0.5094 | ambiguous | -0.395 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/M | 0.6574 | likely_pathogenic | 0.6452 | pathogenic | 0.01 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/N | 0.4819 | ambiguous | 0.562 | ambiguous | -0.55 | Destabilizing | None | None | None | None | N | 0.439489582 | None | None | N |
| S/P | 0.576 | likely_pathogenic | 0.729 | pathogenic | -0.464 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Q | 0.7854 | likely_pathogenic | 0.7984 | pathogenic | -0.872 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/R | 0.8955 | likely_pathogenic | 0.9013 | pathogenic | -0.449 | Destabilizing | None | None | None | None | N | 0.439142866 | None | None | N |
| S/T | 0.2206 | likely_benign | 0.2348 | benign | -0.628 | Destabilizing | None | None | None | None | N | 0.438969507 | None | None | N |
| S/V | 0.6471 | likely_pathogenic | 0.6276 | pathogenic | -0.464 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/W | 0.8667 | likely_pathogenic | 0.8702 | pathogenic | -1.07 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Y | 0.6807 | likely_pathogenic | 0.6721 | pathogenic | -0.817 | 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.