Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34078 | 102457;102458;102459 | chr2:178534383;178534382;178534381 | chr2:179399110;179399109;179399108 |
| N2AB | 32437 | 97534;97535;97536 | chr2:178534383;178534382;178534381 | chr2:179399110;179399109;179399108 |
| N2A | 31510 | 94753;94754;94755 | chr2:178534383;178534382;178534381 | chr2:179399110;179399109;179399108 |
| N2B | 25013 | 75262;75263;75264 | chr2:178534383;178534382;178534381 | chr2:179399110;179399109;179399108 |
| Novex-1 | 25138 | 75637;75638;75639 | chr2:178534383;178534382;178534381 | chr2:179399110;179399109;179399108 |
| Novex-2 | 25205 | 75838;75839;75840 | chr2:178534383;178534382;178534381 | chr2:179399110;179399109;179399108 |
| 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: 266
- Q(SASA): 0.5115
- 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/D | rs1043486033  |
-0.191 | None | N | None | 0.062 | 0.0884992946249 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| E/D | rs1043486033 |
-0.191 | None | N | None | 0.062 | 0.0884992946249 | gnomAD-4.0.0 | 1.37137E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79892E-06 | 0 | 0 |
| E/K | rs1454101167 |
0.546 | None | N | None | 0.166 | 0.215869574891 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| E/K | rs1454101167 |
0.546 | None | N | None | 0.166 | 0.215869574891 | gnomAD-4.0.0 | 1.59958E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| E/Q | rs1454101167 |
None | None | N | None | 0.13 | 0.152612264143 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | rs1454101167 |
None | None | N | None | 0.13 | 0.152612264143 | gnomAD-4.0.0 | 6.57039E-06 | None | None | None | None | N | None | 2.41266E-05 | 0 | 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 | 0.3388 | likely_benign | 0.2642 | benign | -0.341 | Destabilizing | None | None | None | None | N | 0.438449432 | None | None | N |
| E/C | 0.9007 | likely_pathogenic | 0.8871 | pathogenic | -0.28 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.2372 | likely_benign | 0.2002 | benign | -0.367 | Destabilizing | None | None | None | None | N | 0.439142866 | None | None | N |
| E/F | 0.8706 | likely_pathogenic | 0.8017 | pathogenic | -0.08 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.2898 | likely_benign | 0.2289 | benign | -0.546 | Destabilizing | None | None | None | None | N | 0.439489582 | None | None | N |
| E/H | 0.6347 | likely_pathogenic | 0.5392 | ambiguous | 0.342 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.7052 | likely_pathogenic | 0.6131 | pathogenic | 0.17 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.3652 | ambiguous | 0.2578 | benign | 0.217 | Stabilizing | None | None | None | None | N | 0.438796149 | None | None | N |
| E/L | 0.6541 | likely_pathogenic | 0.5456 | ambiguous | 0.17 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.7552 | likely_pathogenic | 0.6856 | pathogenic | 0.084 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.4857 | ambiguous | 0.3996 | ambiguous | -0.22 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.8277 | likely_pathogenic | 0.8214 | pathogenic | 0.02 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.2486 | likely_benign | 0.2012 | benign | -0.154 | Destabilizing | None | None | None | None | N | 0.439316224 | None | None | N |
| E/R | 0.4157 | ambiguous | 0.3259 | benign | 0.558 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.3615 | ambiguous | 0.2874 | benign | -0.372 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.4831 | ambiguous | 0.3765 | ambiguous | -0.196 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.5276 | ambiguous | 0.4287 | ambiguous | 0.02 | Stabilizing | None | None | None | None | N | 0.438796149 | None | None | N |
| E/W | 0.9431 | likely_pathogenic | 0.9219 | pathogenic | 0.095 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.7872 | likely_pathogenic | 0.705 | pathogenic | 0.165 | 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.