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Ortholog conservation Domain conservation Secondary structure 3D structure More Home

Analysis of p.(Lys130Glu) variant, USH1G gene, sans protein (461 residues)

• Ortholog conservation:

  
  
  

  Number of sequences	AAPI*	AAPIR**	Number of divergencies	Number of mutant	Number of gaps	Conservation of K130	Conservation - gap
  27	82.08%	88.37%	0 details	0 details	0 details	27 / 27 (100.00%)	27 / 27 (100.00%)

  
  
  

  The alignment does not show any divergent sequences.

  The mutant residue cannot be found in the alignment.

  There is no gap in the alignment.

  *AAPI: Alignment Average Percentage Identity
  **AAPIR: Alignment Average Percentage Identity of the Region (20 residues surrounding position 130). 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.

  Informativity of this alignment: P₀ = 0.0224, with an average substitution per position of 3.80.
  This means that you have a probability of 0.9776 (97.76%) that position 130 is invariant because it is functionally constrained.
  More information here.

  Display alignment

  Click on the alignment to zoom in and out.

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  Homo sapiens

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  Pan troglodytes

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  Pongo pygmaeus

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  Dipodomys ordii

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  Cavia porcellus

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  Myotis lucifugus

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  Equus caballus

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  Felis catus

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  Mus musculus

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  Rattus norvegicus

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  Erinaceus europaeus

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  Canis familiaris

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  Pteropus vampyrus

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  Tursiops truncatus

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  Procavia capensis

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  Loxodonta africana

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  Monodelphis domestica

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  Xenopus tropicalis

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  Anolis carolinensis

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  Taeniopygia guttata

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  Danio rerio

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  Gasterosteus aculeatus

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  Tetraodon nigroviridis

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  Takifugu rubripes

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  Species color legend (basic classification):

  Great apes | Other monkeys | Prosimians | Other mammals | Lizards | Birds | Amphibians | Fishes | Insects | Nematods | Tunicates | Echinoderms

  Show Venn diagram of alignment

  Display WebLogo for the region

  Click on the top-left corner to enlarge.

  

  Display alignment phylogenetic tree

  Click on the top-left corner to enlarge.

  
  

  Download tree in Newick format (right-click on the link, and choose 'Save target as').

  Display region alignment (21 residues, Fasta format)

  Display methods

  Ortholog sequences have been selected from the Ensembl⁽¹⁾ and NCBI websites. Alignment has been performed with ClustalW⁽²⁾, version 1.83 or 2.0.7. Trees have been built using Phylogeny.fr ⁽³⁾, based on the alignments. Software used is PhyML 3.0 aLRT with default parameters. Pictures of trees have been made using Phylip at Mobyle. AAPI and AAPIR have been calculated thanks to Bioperl. WebLogos are drawn with WebLogo 3⁽¹⁴⁾

  Accession numbers

• Domain conservation:

  The domain central of sans is very likely to interact with:

  • myosin VIIa - FERM 1
  • myosin VIIa - FERM 2
  • myosin VIIa - MyTH4 1
  • myosin VIIa - MyTH4 2
  • sans - central

  The residue belongs to the domain central.

  127

  384

  	Sans has been shown to homomerize and interact with myosin VIIa via its central domain.

  
  
  
  
  

  There are no alignments available concerning the domain central of the protein sans or the residue is not present in the alignment.

• Secondary structure analysis:

  Residu K130 is predicted to belong to a loop. Probability is 0.920.

  Direct environment is as follow:

  S	L	N	P	K130	L	V	G	K

  
  
  

  Display methods

  Predictions of secondary structures have been made with PsiPred⁽⁹⁾ , version 2.5, using Protein Multiple Sequences Alignments as input, in order to increase the accuracy of the prediction. Amino acid frequencies have been calculated from a non redondant set defined by the RCSB. Details are provided here.

• 3D analysis:

  No 3D model available at this position.

  Check 3D coverage of sans

• Additional ressources:

  
  
  
  • UNIPROT annotations
    

    The variation is not reported in Uniprot.

  • Click on the LOVD picture to check if a variant is described at position 130    
    
    
    
    
  • Graphical display of the region at NCBI (including SNPs)

See accession numbers of sequences used or references.

Execution time: 1 wallclock secs ( 0.02 usr 0.00 sys + 0.73 cusr 0.32 csys = 1.07 CPU)