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UniProtKB/Swiss-Prot Q9GZZ9: Variant p.Lys310Glu

Ubiquitin-like modifier-activating enzyme 5
Gene: UBA5
Variant information

Variant position:  310
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 Lysine (K) to Glutamate (E) at position 310 (K310E, p.Lys310Glu).
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 (K) to medium size and acidic (E)
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:  Spinocerebellar ataxia, autosomal recessive, 24 (SCAR24) [MIM:617133]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR24 patients manifest gait instability and speech difficulties with onset in childhood. Clinical features include gait and limb ataxia, dysarthria, nystagmus, cataracts, and cerebellar atrophy on brain imaging. {ECO:0000269|PubMed:26872069}. 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 SCAR24; does not affect cytoplasm localization; decreases protein stability; does not affect interaction with UFM1.
Any additional useful information about the variant.

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



Sequence information

Variant position:  310
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  404
The length of the canonical sequence.

Location on the sequence:   DFFPTMSMKPNPQCDDRNCR  K QQEEYKKKVAALPKQEVIQE
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                         DFFPTMSMKPNPQCDDRNCRKQQEEYKKKVAALPKQ-EVI-QE

Mouse                         DFFPTMFMKPNPQCDDKNCRKQQEEYKKRAAALPTQ-EAEP

Rat                           DFFPTMFMKPNPQCDDKNCRKQQEEYKKRAPAQPTQ-ETAP

Bovine                        DFFPTMSMKPNPQCDDRNCRKQQKEYKKKVAALPKQ-EVI-

Chicken                       DFFPTMAMKPNPQCSDQNCRKQQENYKIKEAAQPKQ-EEI-

Xenopus laevis                DFFPTMAMKPNPQCDDKYCRKQQEEFKLKEAAKPKQ-ETVV

Xenopus tropicalis            DFFPTMAMKPNPQCGDKYCRKQQEEFKLKEAARPKQ-EPIV

Zebrafish                     DFFPSMAMKANPQCDDRHCRRQQDEYKKKEAERPKQ-EVV-

Caenorhabditis elegans        DFFPRDSIKPNPYCDDSHCLQRQKEYEEKVANQPVDLEVEV

Drosophila                    DFFPKMTLKPNPQCDDRNCLVRQKEFQARPKPVLIE-EKAV

Slime mold                    DYFPKDNMKPNPECSNSFCIIHQQKYKEFLKNNPKE-NLIQ

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 – 404 Ubiquitin-like modifier-activating enzyme 5
Metal binding 303 – 303 Zinc
Metal binding 308 – 308 Zinc
Helix 306 – 317


Literature citations

UBA5 mutations cause a new form of autosomal recessive cerebellar ataxia.
Duan R.; Shi Y.; Yu L.; Zhang G.; Li J.; Lin Y.; Guo J.; Wang J.; Shen L.; Jiang H.; Wang G.; Tang B.;
PLoS ONE 11:E0149039-E0149039(2016)
Cited for: INTERACTION WITH UFM1; SUBCELLULAR LOCATION; INVOLVEMENT IN SCAR24; VARIANTS SCAR24 GLU-310 AND ARG-246--MET-404; CHARACTERIZATION OF VARIANTS SCAR24 GLU-310 AND ARG-246--MET-404;

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.