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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NYP7: Variant p.Gly230Val

Very long chain fatty acid elongase 5
Gene: ELOVL5
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Variant information Variant position: help 230 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 Glycine (G) to Valine (V) at position 230 (G230V, p.Gly230Val). 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 glycine (G) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In SCA38. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 230 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 299 The length of the canonical sequence.
Location on the sequence: help FVLTIIQTSCGVIWPCTFPL G WLYFQIGYMISLIALFTNFY 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                         FVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTNFY

Mouse                         FVLTIIQTTCGVFWPCSFPLGWLFFQIGYMISLIALFTNFY

Rat                           FVLTIIQTSCGVIWPCSFPLGWLYFQIGYMISLIALFTNFY

Bovine                        FVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLITLFTNFY

Xenopus laevis                FVLTMTQTTCAMIWPCKFPMGWLYFQNSYMISLIILFTNFY

Xenopus tropicalis            FVLTMTQTTCAMIWPCKFPMGWLYFQNCYMISLIILFGNFY
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 – 299 Very long chain fatty acid elongase 5
Transmembrane 226 – 246 Helical
Alternative sequence 89 – 299 Missing. In isoform 3.



Literature citations
ELOVL5 mutations cause spinocerebellar ataxia 38.
Di Gregorio E.; Borroni B.; Giorgio E.; Lacerenza D.; Ferrero M.; Lo Buono N.; Ragusa N.; Mancini C.; Gaussen M.; Calcia A.; Mitro N.; Hoxha E.; Mura I.; Coviello D.A.; Moon Y.A.; Tesson C.; Vaula G.; Couarch P.; Orsi L.; Duregon E.; Papotti M.G.; Deleuze J.F.; Imbert J.; Costanzi C.; Padovani A.; Giunti P.; Maillet-Vioud M.; Durr A.; Brice A.; Tempia F.; Funaro A.; Boccone L.; Caruso D.; Stevanin G.; Brusco A.;
Am. J. Hum. Genet. 95:209-217(2014)
Cited for: SUBCELLULAR LOCATION; TISSUE SPECIFICITY; INVOLVEMENT IN SCA38; VARIANTS SCA38 VAL-72 AND VAL-230;
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.