UniProtKB/Swiss-Prot Q9H582: Variant p.Ala550Thr

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 550 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 Alanine (A) to Threonine (T) at position 550 (A550T, p.Ala550Thr). 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 small size and hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 0 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
Other resources: Links to websites of interest for the variant.

• Variant rs754440728 [ dbSNP | Ensembl ]

Sequence information

Variant position: 550 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1327 The length of the canonical sequence.
Location on the sequence: CNFMAVTENELECHRGIAHG A VVKCPMVTSDIAQRKTQKKT 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 – 1327	Zinc finger protein 644
Cross	553 – 553	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Alternative sequence	1 – 1222	Missing. In isoform 3.

Literature citations

Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.
Jiang D.; Li J.; Xiao X.; Li S.; Jia X.; Sun W.; Guo X.; Zhang Q.;
Invest. Ophthalmol. Vis. Sci. 56:339-345(2015)
Cited for: VARIANTS MYP21 MET-369; GLY-672; THR-683 AND HIS-851; VARIANT THR-550;