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UniProtKB/Swiss-Prot Q8N442: Variant p.Ala609Ser

Translation factor GUF1, mitochondrial
Gene: GUF1
Chromosomal location: 4p13
Variant information

Variant position:  609
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 Alanine (A) to Serine (S) at position 609 (A609S, p.Ala609Ser).
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 small size and hydrophobic (A) to small size and polar (S)
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

Involvement in disease:  Epileptic encephalopathy, early infantile, 40 (EIEE40) [MIM:617065]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE40 inheritance is autosomal recessive. {ECO:0000269|PubMed:26486472}. 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 EIEE40.
Any additional useful information about the variant.

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



Sequence information

Variant position:  609
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  669
The length of the canonical sequence.

Location on the sequence:   SLPRQLFEIAIQAAIGSKII  A RETVKAYRKNVLAKCYGGDI
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                         SLPRQLFEIAIQAAIGS--KIIARETVKAYRKNVLAKCYG----GDI

Mouse                         SLPRQLYEIAIQAAVGS--KVIARETVKAYRKNVLAKCYG-

Bovine                        SLPRQLFEIAIQAALGS--KIIARETVKAYRKNVLAKCYG-

Caenorhabditis elegans        EIPRQQFEVTIKACIGSSTKALSQIVIQPMKRDFSQLLKGN

Drosophila                    LIPKQMVQIAIQACVGS--KVLARETIKAYRKDVTAKLYG-

Slime mold                    VIDRQMFQVNIQAMVGS--DVQARETISAMRKDVTAKCYG-

Baker's yeast                 YVKSQLYEVVIQARANN--KIIARETIKARRKDVLQKLHA-

Fission yeast                 LVPKQLYEVILQAVIDN--RVVARESISALRKNVTAKCYG-

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 50 – 669 Translation factor GUF1, mitochondrial


Literature citations

West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1.
Alfaiz A.A.; Mueller V.; Boutry-Kryza N.; Ville D.; Guex N.; de Bellescize J.; Rivier C.; Labalme A.; des Portes V.; Edery P.; Till M.; Xenarios I.; Sanlaville D.; Herrmann J.M.; Lesca G.; Reymond A.;
Eur. J. Hum. Genet. 24:1001-1008(2016)
Cited for: INVOLVEMENT IN EIEE40; VARIANT EIEE40 SER-609;

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.