UniProtKB/Swiss-Prot P15812: Variant p.Gln106Arg

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 106 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 Arginine (R) at position 106 (Q106R, p.Gln106Arg). 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 (R) 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: Six alleles of CD1E are known. CD1E*01 has His-102/Gln-106/Ser-149/Arg-164/Leu-194, CD1E*02 has His-102/Arg-106/Ser-149/Arg-164/Leu-194, CD1E*03 (9L) has His-102/Gln-106/Ser-149/Trp-164/Leu-194, CD1E*04 (15L) has His-102/Gln-106/Ser-149/Arg-164/Pro-194, CD1E*05 has Arg-102/Arg-106/Ser-149/Arg-164/Leu-194 and CD1E*06 has His-102/Arg-106/Asn-149/Arg-164/Leu-194 (PubMed:11019917, PubMed:12144626, PubMed:18325888). The sequence shown is that of allele CD1E*01. Additional information on the polymorphism described.
Variant description: In allele CD1E*02, allele CD1E*05 and CD1E*06. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs1065457 [ dbSNP | Ensembl ]

Sequence information

Variant position: 106 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 388 The length of the canonical sequence.
Location on the sequence: SKQELKNLQSLFQLYFHSFI Q IVQASAGQFQLEYPFEIQIL 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	20 – 388	T-cell surface glycoprotein CD1e, membrane-associated
Chain	32 – 388	T-cell surface glycoprotein CD1e, soluble
Alternative sequence	20 – 208	Missing. In isoform 8, isoform 9, isoform 10, isoform 11 and isoform 12.
Alternative sequence	20 – 119	APQALQSYHLAAEEQLSFRMLQTSSFANHSWAHSEGSGWLGDLQTHGWDTVLGTIRFLKPWSHGNFSKQELKNLQSLFQLYFHSFIQIVQASAGQFQLEY -> D. In isoform 13.
Helix	87 – 111

Literature citations

Characterization of CD1e, a third type of CD1 molecule expressed in dendritic cells.
Angenieux C.; Salamero J.; Fricker D.; Cazenave J.-P.; Goud B.; Hanau D.; de La Salle H.;
J. Biol. Chem. 275:37757-37764(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 5; 6; 7; 8; 9; 10; 11 AND 12); VARIANT ARG-106; FUNCTION; INTERACTION WITH B2M; PROTEOLYTIC PROCESSING; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; Polymorphism of human CD1 genes.
Han M.; Hannick L.I.; DiBrino M.; Robinson M.A.;
Tissue Antigens 54:122-127(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 30-118; VARIANT ARG-106; Two novel CD1 E alleles identified in black African individuals.
Tamouza R.; Sghiri R.; Ramasawmy R.; Neonato M.G.; Mombo L.E.; Poirier J.C.; Schaeffer V.; Fortier C.; Labie D.; Girot R.; Toubert A.; Krishnamoorthy R.; Charron D.;
Tissue Antigens 59:417-420(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 31-208 (ALLELES CD1E*05 AND CD1E*06); POLYMORPHISM; VARIANTS ARG-102; ARG-106; ASN-149 AND TRP-164;