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UniProtKB/Swiss-Prot Q96MP8: Variant p.Asn273Ile

BTB/POZ domain-containing protein KCTD7
Gene: KCTD7
Variant information

Variant position:  273
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 Asparagine (N) to Isoleucine (I) at position 273 (N273I, p.Asn273Ile).
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 (N) to medium size and hydrophobic (I)
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:  Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726]: An autosomal recessive, severe, progressive myoclonic epilepsy with early onset. Multifocal myoclonic seizures begin between 16 and 24 months of age after normal initial development. Neurodegeneration and regression occur with seizure onset. Other features include mental retardation, dysarthria, truncal ataxia, and loss of fine finger movements. EEG shows slow dysrhythmia, multifocal and occasionally generalized epileptiform discharges. In some patients, ultrastructural findings on skin biopsies identify intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis. {ECO:0000269|PubMed:17455289, ECO:0000269|PubMed:22606975, ECO:0000269|PubMed:22612257, ECO:0000269|PubMed:22693283, ECO:0000269|PubMed:22748208}. 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 EPM3.
Any additional useful information about the variant.

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



Sequence information

Variant position:  273
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  289
The length of the canonical sequence.

Location on the sequence:   SAQGLTVDHQCIGVCDKHLV  N HYYCKRPIYEFKITWW
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                         SAQGLTVDHQCIGVCDKHLVNHYYCKRPIYEFKITWW

Mouse                         SAQGLTVDHQCIGVCDKHLVNHYYCKRPIYEFKITWW

Rat                           SAQGLTVDHQCIGVCDKHLVNHYYCKRPIYEFKITWW

Bovine                        SAQGLTVDHQCIGVCDKHLINHYYCKRPIYEFKITWW

Chicken                       SDRGITVDHQCIGVCDKHLINHYYCKRPIYEFKITWW

Zebrafish                     AERGISADQQCIGVCDKHLINHYYCKRPIYEFKITWW

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 – 289 BTB/POZ domain-containing protein KCTD7
Alternative sequence 289 – 289 Missing. In isoform 2.


Literature citations

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.
Kousi M.; Anttila V.; Schulz A.; Calafato S.; Jakkula E.; Riesch E.; Myllykangas L.; Kalimo H.; Topcu M.; Gokben S.; Alehan F.; Lemke J.R.; Alber M.; Palotie A.; Kopra O.; Lehesjoki A.E.;
J. Med. Genet. 49:391-399(2012)
Cited for: SUBCELLULAR LOCATION; VARIANTS EPM3 TRP-94; MET-108; TYR-115 AND ILE-273;

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.