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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P15812: Variant p.Arg164Trp

T-cell surface glycoprotein CD1e, membrane-associated
Gene: CD1E
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Variant information Variant position: help 164 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Tryptophan (W) at position 164 (R164W, p.Arg164Trp). 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: help Change from large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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: help 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:12144626, PubMed:11019917, PubMed:18325888). The sequence shown is that of allele CD1E*01. Additional information on the polymorphism described.
Variant description: help In allele CD1E*03. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 164 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 388 The length of the canonical sequence.
Location on the sequence: help GSDFLSFQGISWEPSPGAGI R AQNICKVLNRYLDIKEILQS 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: help 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.
TypePositionsDescription
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 119 – 209 YPFEIQILAGCRMNAPQIFLNMAYQGSDFLSFQGISWEPSPGAGIRAQNICKVLNRYLDIKEILQSLLGHTCPRFLAGLMEAGESELKRKV -> L. In isoform 5, isoform 6 and isoform 7.
Helix 163 – 174



Literature citations
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; Identification of two novel human CD1E alleles.
Mirones I.; Oteo M.; Parra-Cuadrado J.F.; Martinez-Naves E.;
Tissue Antigens 56:159-161(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 120-208 (ALLELES CD1E*03 AND CD1E*04); POLYMORPHISM; VARIANTS TRP-164 AND PRO-194;
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.