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UniProtKB/Swiss-Prot P15812: Variant p.His102Arg

T-cell surface glycoprotein CD1e, membrane-associated
Gene: CD1E
Chromosomal location: 1q22-q23
Variant information

Variant position:  102
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Histidine (H) to Arginine (R) at position 102 (H102R, p.His102Arg).
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 (H) to large size and basic (R)
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

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:12144626, PubMed:11019917, PubMed:18325888). The sequence shown is that of allele CD1E*01.
Additional information on the polymorphism described.

Variant description:  In allele CD1E*05.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  102
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:   HGNFSKQELKNLQSLFQLYF  H SFIQIVQASAGQFQLEYPFE
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.

TypePositionsDescription
Chain 20 – 388 T-cell surface glycoprotein CD1e, membrane-associated
Chain 32 – 388 T-cell surface glycoprotein CD1e, soluble
Glycosylation 84 – 84 N-linked (GlcNAc...) asparagine
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

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;

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.