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UniProtKB/Swiss-Prot Q75V66: Variant p.Cys356Gly

Anoctamin-5
Gene: ANO5
Variant information

Variant position:  356
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Cysteine (C) to Glycine (G) at position 356 (C356G, p.Cys356Gly).
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 medium size and polar (C) to glycine (G)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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

Involvement in disease:  Gnathodiaphyseal dysplasia (GDD) [MIM:166260]: Rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone fractures caused by trivial accidents in childhood; however the fractures heal normally without bone deformity. The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity. {ECO:0000269|PubMed:15124103, ECO:0000269|PubMed:23047743, ECO:0000269|PubMed:27216912}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In GDD.
Any additional useful information about the variant.

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



Sequence information

Variant position:  356
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  913
The length of the canonical sequence.

Location on the sequence:   TSSTEICDPEIGGQMIMCPL  C DQVCDYWRLNSTCLASKFSH
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                         TSSTEICDPEIGGQMIMCPLCDQVCDYWRLNSTCLASKFSH

Mouse                         RTSTEICDPDIGGQMIMCPLCDEVCDYWRLNTTCLHSKFSH

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 – 913 Anoctamin-5
Topological domain 321 – 380 Extracellular
Glycosylation 366 – 366 N-linked (GlcNAc...) asparagine


Literature citations

The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).
Tsutsumi S.; Kamata N.; Vokes T.J.; Maruoka Y.; Nakakuki K.; Enomoto S.; Omura K.; Amagasa T.; Nagayama M.; Saito-Ohara F.; Inazawa J.; Moritani M.; Yamaoka T.; Inoue H.; Itakura M.;
Am. J. Hum. Genet. 74:1255-1261(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; VARIANTS GDD GLY-356 AND ARG-356;

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.