Analysis of p.(Glu819Asp) variant, USH1C gene, harmonin protein (899 residues)
Ortholog conservation: |
Number of sequences | AAPI* | AAPIR** | Number of divergencies | Number of mutant | Number of gaps | Conservation of E819 | Conservation - gap |
---|---|---|---|---|---|---|---|
21 | 80.16% | 72.32% | 6 details |
0 details |
0 details |
15 / 21 (71.43%) | 15 / 21 (71.43%) |
*AAPI: Alignment Average Percentage Identity
**AAPIR: Alignment Average Percentage Identity of the Region (20 residues surrounding position 819). AAPIR appears in green if it is more than 10% compared to AAPI, in red if less than 10%.
You can check the AAPIRs compared with AAPI of the whole alignment by clicking here. The help page will tell you more.
Show Venn diagram of alignment
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Display region alignment (21 residues, Fasta format)
Domain conservation: |
The domain PDZ 3 of harmonin is very likely to interact with:
The residue belongs to the domain PDZ 3.
752 |
| 825 |
|
|||
There are no alignments available concerning the domain PDZ of the protein harmonin or the residue is not present in the alignment.
Secondary structure analysis: |
Residu E819 is predicted to belong to an α helice. Probability is 0.977.
Direct environment is as follow:
L | A | E | A | E819 | A | A | L | Q |
Observed frequencies in α helices:
E: 1.2
D: 0.98
Mutant residu is less observed in this type of structure.
3D analysis: |
Models provided and analysed by USMA must be considered as predictions, therefore be careful when interpreting the results. All efforts have been made to build structures of quality, however, they are provided with NO WARRANTY as to their accuracy with the real biological molecules studied.
Predicted wild type and mutant structures have been compared. You will find the results below. Please note that USMA's "3D engine" is unable to analyse interactions with non amino-acids molecules (e.g. ATP or Ca2+).
PDB template | Sequence identity* | Molprobity bad rotamers | Molprobity Ramachandran outliers | Molprobity Ramachandran favored |
---|---|---|---|---|
1V6B | 95.4 % | 2/85 - 2.4 % | 0/106 - 0 % | 99/106 - 93.4 % |
* between target and template
Otherwise, see detailed Molprobity output
E819 | D819 |
---|---|
distance: 2.61 Å / angle: 2.87 rad between N and LEU 815 O distance: 3.49 Å / angle: 1.77 rad between O and LEU 822 N distance: 3.04 Å / angle: 2.55 rad between O and GLN 823 N distance: 3.31 Å / angle: 1.82 rad between N and ALA 816 O | distance: 2.67 Å / angle: 2.89 rad between N and LEU 815 O distance: 3.14 Å / angle: 2.37 rad between O and GLN 823 N distance: 2.97 Å / angle: 1.81 rad between OD2 and ALA 820 N distance: 3.37 Å / angle: 1.84 rad between N and ALA 816 O |
E819 | D819 |
---|---|
none | none |
E819 (wild-type) | D819 (mutant) |
---|---|
JSmol Legends: The residue at the position 819 is located in the center, labelled in yellow and surrounded by its neighboring residues (distance < 5 Å). Amino acids involved in H-bonds with the residue 819 are labelled in blue. Amino acids involved in steric clashes with the residue 819 are labelled in red.
Additional ressources: |
See accession numbers of sequences used or references.
Execution time: 1 wallclock secs ( 0.17 usr 0.01 sys + 0.88 cusr 0.32 csys = 1.38 CPU)