Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33913 | 101962;101963;101964 | chr2:178534878;178534877;178534876 | chr2:179399605;179399604;179399603 |
| N2AB | 32272 | 97039;97040;97041 | chr2:178534878;178534877;178534876 | chr2:179399605;179399604;179399603 |
| N2A | 31345 | 94258;94259;94260 | chr2:178534878;178534877;178534876 | chr2:179399605;179399604;179399603 |
| N2B | 24848 | 74767;74768;74769 | chr2:178534878;178534877;178534876 | chr2:179399605;179399604;179399603 |
| Novex-1 | 24973 | 75142;75143;75144 | chr2:178534878;178534877;178534876 | chr2:179399605;179399604;179399603 |
| Novex-2 | 25040 | 75343;75344;75345 | chr2:178534878;178534877;178534876 | chr2:179399605;179399604;179399603 |
| 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: 101
- Q(SASA): 0.1006
- 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 | 0.64 | 0.497679007273 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| E/K | rs1376195366  |
-0.379 | None | N | None | 0.563 | 0.475895305069 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| E/K | rs1376195366 |
-0.379 | None | N | None | 0.563 | 0.475895305069 | gnomAD-4.0.0 | 2.05995E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69838E-06 | 0 | 0 |
| E/Q | rs1376195366 |
None | None | N | None | 0.463 | 0.39208347742 | gnomAD-4.0.0 | 6.86651E-07 | None | None | None | None | N | None | 2.98775E-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 | 0.8507 | likely_pathogenic | 0.8062 | pathogenic | -0.739 | Destabilizing | None | None | None | None | N | 0.490021882 | None | None | N |
| E/C | 0.993 | likely_pathogenic | 0.9926 | pathogenic | -0.316 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.8565 | likely_pathogenic | 0.8336 | pathogenic | -1.615 | Destabilizing | None | None | None | None | N | 0.475880873 | None | None | N |
| E/F | 0.9946 | likely_pathogenic | 0.9946 | pathogenic | -0.42 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.8089 | likely_pathogenic | 0.7482 | pathogenic | -1.208 | Destabilizing | None | None | None | None | N | 0.507823422 | None | None | N |
| E/H | 0.9739 | likely_pathogenic | 0.9711 | pathogenic | -0.589 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.9641 | likely_pathogenic | 0.9572 | pathogenic | 0.589 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.8097 | likely_pathogenic | 0.7382 | pathogenic | -0.77 | Destabilizing | None | None | None | None | N | 0.503784497 | None | None | N |
| E/L | 0.9718 | likely_pathogenic | 0.9681 | pathogenic | 0.589 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.9758 | likely_pathogenic | 0.9718 | pathogenic | 1.222 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.9557 | likely_pathogenic | 0.9459 | pathogenic | -1.325 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.9562 | likely_pathogenic | 0.9524 | pathogenic | 0.167 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.7081 | likely_pathogenic | 0.672 | pathogenic | -0.907 | Destabilizing | None | None | None | None | N | 0.482717728 | None | None | N |
| E/R | 0.8673 | likely_pathogenic | 0.8427 | pathogenic | -0.829 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.8935 | likely_pathogenic | 0.8708 | pathogenic | -1.882 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.9116 | likely_pathogenic | 0.8976 | pathogenic | -1.426 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.9136 | likely_pathogenic | 0.8952 | pathogenic | 0.167 | Stabilizing | None | None | None | None | N | 0.49271768 | None | None | N |
| E/W | 0.9983 | likely_pathogenic | 0.9981 | pathogenic | -0.567 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.9863 | likely_pathogenic | 0.9857 | pathogenic | -0.216 | 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.