Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33925 | 101998;101999;102000 | chr2:178534842;178534841;178534840 | chr2:179399569;179399568;179399567 |
| N2AB | 32284 | 97075;97076;97077 | chr2:178534842;178534841;178534840 | chr2:179399569;179399568;179399567 |
| N2A | 31357 | 94294;94295;94296 | chr2:178534842;178534841;178534840 | chr2:179399569;179399568;179399567 |
| N2B | 24860 | 74803;74804;74805 | chr2:178534842;178534841;178534840 | chr2:179399569;179399568;179399567 |
| Novex-1 | 24985 | 75178;75179;75180 | chr2:178534842;178534841;178534840 | chr2:179399569;179399568;179399567 |
| Novex-2 | 25052 | 75379;75380;75381 | chr2:178534842;178534841;178534840 | chr2:179399569;179399568;179399567 |
| 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: 113
- Q(SASA): 0.2213
- 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 | 0.25 | 0.331365685468 | gnomAD-4.0.0 | 6.86249E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99457E-07 | 0 | 0 |
| E/K | rs780205747  |
-1.534 | None | N | None | 0.259 | 0.324986149311 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 0 | 8.7E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/K | rs780205747 |
-1.534 | None | N | None | 0.259 | 0.324986149311 | gnomAD-4.0.0 | 8.01333E-06 | None | None | None | None | N | None | 0 | 9.14578E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02627E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.279 | likely_benign | 0.2468 | benign | -0.759 | Destabilizing | None | None | None | None | N | 0.457886995 | None | None | N |
| E/C | 0.9064 | likely_pathogenic | 0.8987 | pathogenic | -0.718 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.2795 | likely_benign | 0.2518 | benign | -1.359 | Destabilizing | None | None | None | None | N | 0.411807989 | None | None | N |
| E/F | 0.8773 | likely_pathogenic | 0.873 | pathogenic | -0.721 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.3123 | likely_benign | 0.2849 | benign | -1.103 | Destabilizing | None | None | None | None | N | 0.489538053 | None | None | N |
| E/H | 0.5856 | likely_pathogenic | 0.5602 | ambiguous | -1.353 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.7067 | likely_pathogenic | 0.6714 | pathogenic | 0.183 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.2364 | likely_benign | 0.204 | benign | -1.706 | Destabilizing | None | None | None | None | N | 0.451190309 | None | None | N |
| E/L | 0.6598 | likely_pathogenic | 0.6101 | pathogenic | 0.183 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.7177 | likely_pathogenic | 0.6798 | pathogenic | 0.781 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.4709 | ambiguous | 0.4399 | ambiguous | -1.813 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.9819 | likely_pathogenic | 0.9823 | pathogenic | -0.111 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.2151 | likely_benign | 0.1911 | benign | -1.543 | Destabilizing | None | None | None | None | N | 0.421080833 | None | None | N |
| E/R | 0.3268 | likely_benign | 0.3067 | benign | -1.628 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.3184 | likely_benign | 0.2859 | benign | -2.185 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.4043 | ambiguous | 0.3697 | ambiguous | -1.919 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.505 | ambiguous | 0.4615 | ambiguous | -0.111 | Destabilizing | None | None | None | None | N | 0.492135641 | None | None | N |
| E/W | 0.9617 | likely_pathogenic | 0.9589 | pathogenic | -0.942 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.7883 | likely_pathogenic | 0.7854 | pathogenic | -0.711 | 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.