UniProtKB/Swiss-Prot Q9H9D4: Variant p.Gln583Lys

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 583 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/B 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: From Glutamine (Q) to Lysine (K) at position 583 (Q583K, p.Gln583Lys). 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 medium size and polar (Q) to large size and basic (K) 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

Sequence information

Variant position: 583 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 720 The length of the canonical sequence.
Location on the sequence: PHTLRAHERLHSGERPFPCP Q CGRAYTLATKLRRHLKSHLE 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.
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 – 720	Zinc finger protein 408
Zinc finger	579 – 601	C2H2-type 9

Literature citations

Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.
Avila-Fernandez A.; Perez-Carro R.; Corton M.; Lopez-Molina M.I.; Campello L.; Garanto A.; Fernandez-Sanchez L.; Duijkers L.; Lopez-Martinez M.A.; Riveiro-Alvarez R.; Da Silva L.R.; Sanchez-Alcudia R.; Martin-Garrido E.; Reyes N.; Garcia-Garcia F.; Dopazo J.; Garcia-Sandoval B.; Collin R.W.; Cuenca N.; Ayuso C.;
Hum. Mol. Genet. 24:4037-4048(2015)
Cited for: TISSUE SPECIFICITY; SUBCELLULAR LOCATION; INVOLVEMENT IN RP72; VARIANTS ARG-492 AND LYS-583; VARIANT RP72 CYS-541; CHARACTERIZATION OF VARIANT RP72 CYS-541;