UniProtKB/Swiss-Prot Q5VY80: Variant p.Met85Thr

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 85 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 Methionine (M) to Threonine (T) at position 85 (M85T, p.Met85Thr). 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 hydrophobic (M) to medium size and polar (T) 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
Polymorphism: 4 alleles have been identified in 32 Caucasian individuals: ULBP6*01 (frequency 0.483), ULBP6*02 (frequency 0.424), ULBP6*03 (frequency 0.069) and ULBP6*04 (frequency 0.024). The sequence shown is that of ULBP6*03 (PubMed:19658097). Allele ULBP6*02 has a much higher affinity for KLRK1/NKG2D than allele ULBP6*01, but elicits less-efficient cytotoxicity. This high binding affinity and limited functional potency may depend upon the presence of the Leu residue at position 106 (PubMed:28559451). Additional information on the polymorphism described.
Variant description: In allele ULBP6*01, allele ULBP6*02 and allele ULBP6*04. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs912565 [ dbSNP | Ensembl ]

Sequence information

Variant position: 85 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 246 The length of the canonical sequence.
Location on the sequence: DCGNKTVTPVSPLGKKLNVT M AWKAQNPVLREVVDILTEQL 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	26 – 218	UL16-binding protein 6
Region	29 – 117	MHC class I alpha-1 like
Glycosylation	68 – 68	N-linked (GlcNAc...) asparagine
Glycosylation	82 – 82	N-linked (GlcNAc...) asparagine

Literature citations

A cluster of ten novel MHC class I related genes on human chromosome 6q24.2-q25.3.
Radosavljevic M.; Cuillerier B.; Wilson M.J.; Clement O.; Wicker S.; Gilfillan S.; Beck S.; Trowsdale J.; Bahram S.;
Genomics 79:114-123(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; VARIANT THR-85; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4-246; VARIANT THR-85; ULBP6/RAET1L is an additional human NKG2D ligand.
Eagle R.A.; Traherne J.A.; Hair J.R.; Jafferji I.; Trowsdale J.;
Eur. J. Immunol. 39:3207-3216(2009)
Cited for: VARIANTS GLY-26; THR-85; ARG-106 AND ILE-147; FUNCTION; INTERACTION WITH KLRK1 AND CMV UL16; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; A disease-linked ULBP6 polymorphism inhibits NKG2D-mediated target cell killing by enhancing the stability of NKG2D ligand binding.
Zuo J.; Willcox C.R.; Mohammed F.; Davey M.; Hunter S.; Khan K.; Antoun A.; Katakia P.; Croudace J.; Inman C.; Parry H.; Briggs D.; Malladi R.; Willcox B.E.; Moss P.;
Sci. Signal. 10:0-0(2017)
Cited for: X-RAY CRYSTALLOGRAPHY (2.35 ANGSTROMS) OF 29-203 IN COMPLEX WITH KLRK1; VARIANTS GLY-26; THR-85; ARG-106 AND ILE-147; CHARACTERIZATION OF ALLELES ULBP6*01 AND ULBP6*02; INTERACTION WITH KLRK1; TISSUE SPECIFICITY;