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UniProtKB/Swiss-Prot Q8N4T0: Variant p.Gly267Arg

Carboxypeptidase A6
Gene: CPA6
Chromosomal location: 8q13.2
Variant information

Variant position:  267
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 Glycine (G) to Arginine (R) at position 267 (G267R, p.Gly267Arg).
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 glycine (G) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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:  Epilepsy, familial temporal lobe, 5 (ETL5) [MIM:614417]: A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature. {ECO:0000269|PubMed:21922598}. 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 ETL5; affects protein secretion presumably by altering protein folding or stability.
Any additional useful information about the variant.

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



Sequence information

Variant position:  267
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  437
The length of the canonical sequence.

Location on the sequence:   WTNDRFWRKTRSRNSRFRCR  G VDANRNWKVKWCDEGASMHP
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                         WTNDRFWRKTRSRNSRFRCRGVDANRNWKVKWCDEGASMHP

Mouse                         WTHDRFWRKTRSRDSKFRCRGVDANRNWKVKWCDEGASAHP

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 130 – 437 Carboxypeptidase A6
Binding site 254 – 254 Substrate
Disulfide bond 265 – 288
Alternative sequence 93 – 437 Missing. In isoform 3.


Literature citations

Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.
Salzmann A.; Guipponi M.; Lyons P.J.; Fricker L.D.; Sapio M.; Lambercy C.; Buresi C.; Bencheikh B.O.; Lahjouji F.; Ouazzani R.; Crespel A.; Chaigne D.; Malafosse A.;
Hum. Mutat. 33:124-135(2012)
Cited for: TISSUE SPECIFICITY; VARIANT ETL5 ARG-267; VARIANT FEB11 VAL-270; CHARACTERIZATION OF VARIANT ETL5 ARG-267; CHARACTERIZATION OF VARIANT FEB11 VAL-270;

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.