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UniProtKB/Swiss-Prot P01730: Variant p.Lys191Glu

T-cell surface glycoprotein CD4
Gene: CD4
Variant information

Variant position:  191
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 Lysine (K) to Glutamate (E) at position 191 (K191E, p.Lys191Glu).
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 large size and basic (K) to medium size and acidic (E)
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:  The OKT monoclonal antibodies are widely used for the analysis of human peripheral blood T-lymphocytes. OKT4 reacts with T-helper/inducer lymphocytes. The OKT4 epitope of the CD4 cell-surface protein is polymorphic in white, black, and Japanese populations. The variable phenotypic expression is due a CD4 polymorphism. OKT4 positive individuals carry Arg-265 and OKT4 negative individuals carry Trp-265 [MIM:613949].
Additional information on the polymorphism described.

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



Sequence information

Variant position:  191
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  458
The length of the canonical sequence.

Location on the sequence:   VSQLELQDSGTWTCTVLQNQ  K KVEFKIDIVVLAFQKASSIV
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.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         VSQLELQDSGTWTCTVL-QNQKKVEFKIDIVVLAFQKASSIV

                              LSWPELQDGGTWTCIIS-QSQKTVEFNINVLVLAFQKVSNT

Rhesus macaque                VPQLERQDSGTWTCTVS-QDQKTVEFKIDIVVLAFQKASST

Chimpanzee                    VSQLELQDSGTWTCTVL-QNQKKVEFKIDIVVLAFQKASSI

Mouse                         MSNLRVQDSDFWNCTVT-LDQKKNWFGMTLSVLGFQSTAIT

Rat                           THSLRIQDSGIWNCTVT-LNQKKHSFDMKLSVLGFASTSIT

Rabbit                        MPKLRLQDSGTWSCHLSFQDQNKLELDIKIIVLGFPKASAT

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 26 – 458 T-cell surface glycoprotein CD4
Topological domain 26 – 396 Extracellular
Domain 126 – 203 Ig-like C2-type 1
Beta strand 191 – 200


Literature citations

Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLU-191; SER-227 AND TRP-265;

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.