Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34025 | 102298;102299;102300 | chr2:178534542;178534541;178534540 | chr2:179399269;179399268;179399267 |
| N2AB | 32384 | 97375;97376;97377 | chr2:178534542;178534541;178534540 | chr2:179399269;179399268;179399267 |
| N2A | 31457 | 94594;94595;94596 | chr2:178534542;178534541;178534540 | chr2:179399269;179399268;179399267 |
| N2B | 24960 | 75103;75104;75105 | chr2:178534542;178534541;178534540 | chr2:179399269;179399268;179399267 |
| Novex-1 | 25085 | 75478;75479;75480 | chr2:178534542;178534541;178534540 | chr2:179399269;179399268;179399267 |
| Novex-2 | 25152 | 75679;75680;75681 | chr2:178534542;178534541;178534540 | chr2:179399269;179399268;179399267 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: E
- RefSeq wild type transcript codon: GAG
- RefSeq wild type template codon: CTC
- Domain: Kinase-1
- Domain position: 213
- Q(SASA): 0.4637
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | None | None | None | N | None | 0.468 | 0.550801545593 | 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 |
| E/K | None | None | None | N | None | 0.449 | 0.393006254552 | gnomAD-4.0.0 | 1.36844E-06 | None | None | None | None | N | None | 2.98829E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99463E-07 | 0 | 0 |
| E/Q | None | None | None | N | None | 0.327 | 0.28297238246 | gnomAD-4.0.0 | 2.05267E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69839E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.3726 | ambiguous | 0.384 | ambiguous | -0.32 | Destabilizing | None | None | None | None | N | 0.442397467 | None | None | N |
| E/C | 0.9484 | likely_pathogenic | 0.9539 | pathogenic | -0.083 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.2338 | likely_benign | 0.2522 | benign | -1.104 | Destabilizing | None | None | None | None | N | 0.455116049 | None | None | N |
| E/F | 0.9458 | likely_pathogenic | 0.9477 | pathogenic | -0.659 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.3029 | likely_benign | 0.3314 | benign | -0.597 | Destabilizing | None | None | None | None | N | 0.501061769 | None | None | N |
| E/H | 0.7083 | likely_pathogenic | 0.7063 | pathogenic | -1.083 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.8506 | likely_pathogenic | 0.8637 | pathogenic | 0.396 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.3626 | ambiguous | 0.3525 | ambiguous | -0.443 | Destabilizing | None | None | None | None | N | 0.417789811 | None | None | N |
| E/L | 0.818 | likely_pathogenic | 0.8291 | pathogenic | 0.396 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.8282 | likely_pathogenic | 0.8454 | pathogenic | 0.87 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.4712 | ambiguous | 0.5229 | ambiguous | -0.644 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.9805 | likely_pathogenic | 0.9792 | pathogenic | 0.181 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.2637 | likely_benign | 0.2672 | benign | -0.555 | Destabilizing | None | None | None | None | N | 0.418309886 | None | None | N |
| E/R | 0.4394 | ambiguous | 0.4278 | ambiguous | -0.487 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.3865 | ambiguous | 0.4226 | ambiguous | -0.863 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.4902 | ambiguous | 0.5002 | ambiguous | -0.648 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.6774 | likely_pathogenic | 0.6988 | pathogenic | 0.181 | Stabilizing | None | None | None | None | N | 0.491132777 | None | None | N |
| E/W | 0.9722 | likely_pathogenic | 0.9724 | pathogenic | -0.798 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.8685 | likely_pathogenic | 0.8754 | pathogenic | -0.515 | 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.