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UniProtKB/Swiss-Prot Q9Y5X0: Variant p.Arg51Gln

Sorting nexin-10
Gene: SNX10
Variant information

Variant position:  51
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Arginine (R) to Glutamine (Q) at position 51 (R51Q, p.Arg51Gln).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In OPTB8; increased expression, produces extensive cytoplasmic vacuolation and impairs bone resorptive function.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  51
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  201
The length of the canonical sequence.

Location on the sequence:   DYEICIHTNSMCFTMKTSCV  R RRYREFVWLRQRLQSNALLV
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         DYEICIHTNSMCFTMKTSCVRRRYREFVWLRQRLQSNALLV

Mouse                         DYEICIHTNSMCFTMKTSCVRRRYREFVWLRQRLQSNALLV

Bovine                        DYEICIHTNSMCFTMKTSCVRRRYREFVWLRQRLQSNALLV

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 1 – 201 Sorting nexin-10
Domain 10 – 127 PX
Region 8 – 125 Required for interaction with ATP6V1D
Binding site 53 – 53 Phosphatidylinositol 3-phosphate
Alternative sequence 1 – 84 Missing. In isoform 2.
Mutagenesis 53 – 53 R -> A. Abolishes vacuolization induced by overexpression.
Beta strand 46 – 52


Literature citations

An SNX10 mutation causes malignant osteopetrosis of infancy.
Aker M.; Rouvinski A.; Hashavia S.; Ta-Shma A.; Shaag A.; Zenvirt S.; Israel S.; Weintraub M.; Taraboulos A.; Bar-Shavit Z.; Elpeleg O.;
J. Med. Genet. 49:221-226(2012)
Cited for: VARIANT OPTB8 GLN-51; CHARACTERIZATION OF VARIANT OPTB8 GLN-51; FUNCTION IN BONE RESORPTION;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.