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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9GZZ9: Variant p.Lys310Glu

Ubiquitin-like modifier-activating enzyme 5
Gene: UBA5
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Variant information Variant position: help 310 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help 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: help 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: help 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
Variant description: help 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: help Links to websites of interest for the variant.


Sequence information Variant position: help 310 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 404 The length of the canonical sequence.
Location on the sequence: help 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: help 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: help 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
Binding site 303 – 303
Binding site 308 – 308
Mutagenesis 290 – 290 D -> K. Impaired homodimerization and ability to activate UFM1 via a trans-binding mechanism.
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: VARIANTS SCAR24 GLU-310 AND 246-ARG--MET-404 DEL; CHARACTERIZATION OF VARIANTS SCAR24 GLU-310 AND 246-ARG--MET-404 DEL; INTERACTION WITH UFM1; SUBCELLULAR LOCATION; INVOLVEMENT IN SCAR24;
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.