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UniProtKB/Swiss-Prot Q9GZR5 : Variant p.Met299Val
Elongation of very long chain fatty acids protein 4
Gene: ELOVL4
Variant information
Variant position: 299 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/BThe 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: From Methionine (M) to Valine (V) at position 299 (M299V, p.Met299Val).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: Similar physico-chemical property. Both residues are medium size and hydrophobic.The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 1The 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
Other resources: Links to websites of interest for the variant.
Sequence information
Variant position: 299 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 314 The length of the canonical sequence.
Location on the sequence:
GKTAMNGISANGVSKSEKQL
M IENGKKQKNGKAKGD
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 GKTAMNGISANGVSKSEKQLM IENGKKQKNGKAKGD
Rhesus macaque GKTAMNGISANGVSKSEKQLV IENGKKQKNGKAKGD
Mouse GKTATNGISSNGVNKSEKAL- -ENGKPQKNGKPKGE
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.
Type Positions Description
Chain
1 – 314
Elongation of very long chain fatty acids protein 4
Region
275 – 314
Disordered
Compositional bias
298 – 314
Basic and acidic residues
Literature citations
A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy.
Zhang K.; Kniazeva M.; Han M.; Li W.; Yu Z.; Yang Z.; Li Y.; Metzker M.L.; Allikmets R.; Zack D.J.; Kakuk L.E.; Lagali P.S.; Wong P.W.; McDonald I.M.; Sieving P.A.; Figueroa D.J.; Austin C.P.; Gould R.J.; Ayyagari R.; Petrukhin K.;
Nat. Genet. 27:89-93(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANT VAL-299; DISEASE;
Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.
Rivolta C.; Ayyagari R.; Sieving P.A.; Berson E.L.; Dryja T.P.;
Mol. Vis. 9:49-51(2003)
Cited for: VARIANTS THR-267 AND VAL-299;
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.