Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33838 | 101737;101738;101739 | chr2:178535103;178535102;178535101 | chr2:179399830;179399829;179399828 |
| N2AB | 32197 | 96814;96815;96816 | chr2:178535103;178535102;178535101 | chr2:179399830;179399829;179399828 |
| N2A | 31270 | 94033;94034;94035 | chr2:178535103;178535102;178535101 | chr2:179399830;179399829;179399828 |
| N2B | 24773 | 74542;74543;74544 | chr2:178535103;178535102;178535101 | chr2:179399830;179399829;179399828 |
| Novex-1 | 24898 | 74917;74918;74919 | chr2:178535103;178535102;178535101 | chr2:179399830;179399829;179399828 |
| Novex-2 | 24965 | 75118;75119;75120 | chr2:178535103;178535102;178535101 | chr2:179399830;179399829;179399828 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: E
- RefSeq wild type transcript codon: GAA
- RefSeq wild type template codon: CTT
- Domain: Kinase-1
- Domain position: 26
- Q(SASA): 0.0953
- 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/K | rs750880689  |
-0.888 | None | N | None | 0.472 | 0.442567846599 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/K | rs750880689 |
-0.888 | None | N | None | 0.472 | 0.442567846599 | gnomAD-4.0.0 | 3.1826E-06 | None | None | None | None | N | None | 0 | 4.57289E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.5266 | ambiguous | 0.5038 | ambiguous | -0.734 | Destabilizing | None | None | None | None | D | 0.528555015 | None | None | N |
| E/C | 0.9702 | likely_pathogenic | 0.9648 | pathogenic | -0.242 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.495 | ambiguous | 0.485 | ambiguous | -1.274 | Destabilizing | None | None | None | None | N | 0.424715784 | None | None | N |
| E/F | 0.9793 | likely_pathogenic | 0.973 | pathogenic | -0.158 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.6638 | likely_pathogenic | 0.6056 | pathogenic | -1.197 | Destabilizing | None | None | None | None | D | 0.526458859 | None | None | N |
| E/H | 0.8896 | likely_pathogenic | 0.8783 | pathogenic | -0.347 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.9023 | likely_pathogenic | 0.8923 | pathogenic | 0.568 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.6188 | likely_pathogenic | 0.6141 | pathogenic | -0.519 | Destabilizing | None | None | None | None | N | 0.475259247 | None | None | N |
| E/L | 0.8746 | likely_pathogenic | 0.8627 | pathogenic | 0.568 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.8832 | likely_pathogenic | 0.8746 | pathogenic | 1.23 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.7748 | likely_pathogenic | 0.7538 | pathogenic | -1.158 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.9585 | likely_pathogenic | 0.966 | pathogenic | 0.155 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.4017 | ambiguous | 0.4105 | ambiguous | -0.862 | Destabilizing | None | None | None | None | N | 0.497040029 | None | None | N |
| E/R | 0.7498 | likely_pathogenic | 0.7354 | pathogenic | -0.414 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.6626 | likely_pathogenic | 0.6346 | pathogenic | -1.662 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.7862 | likely_pathogenic | 0.7812 | pathogenic | -1.229 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.7532 | likely_pathogenic | 0.7459 | pathogenic | 0.155 | Stabilizing | None | None | None | None | N | 0.482908079 | None | None | N |
| E/W | 0.9934 | likely_pathogenic | 0.9908 | pathogenic | -0.029 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.9586 | likely_pathogenic | 0.948 | pathogenic | 0.132 | Stabilizing | 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.