Variant position: 265 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:
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 ASSSKSWITFDLKNKEVSVK RVTQDPKLQMGKKLPLHLTLP
Rhesus macaque ASSSKSWITFDLKNKEVSVK RVTQDPKLQMGKKLPLHLTLP
Chimpanzee ASSSKSWITFDLKNKEVSVK RVTQDPKLQMGKKLPLHLTLP
Mouse DSFFQPWISFSIKNKEVSVQ KSTKDLKLQLKETLPLTLKIP
Rat APSSQSWITFSLKNQKVSVQ KSTSNPKFQLSETLPLTLQIP
Rabbit ASSAQSWVSFSLEDRKVSVQ KILPDLKIQMSKGLPLSLTLP
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
26 – 458 T-cell surface glycoprotein CD4
26 – 396 Extracellular
204 – 317 Ig-like C2-type 2
265 – 265 R -> A. Has no effect on the interaction with MHCII. Impairs recognition by OKT4 antibody.
Humans with OKT4-epitope deficiency have a single nucleotide base change in the CD4 gene, resulting in substitution of TRP240 for ARG240.
Hodge T.W.; Sasso D.R.; McDougal J.S.;
Hum. Immunol. 30:99-104(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; POLYMORPHISM; VARIANT TRP-265; TOPOLOGY;
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLU-191; SER-227 AND TRP-265;
A single amino acid substitution in a common African allele of the CD4 molecule ablates binding of the monoclonal antibody, OKT4.
Lederman S.; DeMartino J.A.; Daugherty B.L.; Foeldvari I.; Yellin M.J.; Cleary A.M.; Berkowitz N.; Lowy I.; Braunstein N.S.; Mark G.E.;
Mol. Immunol. 28:1171-1181(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 250-280; POLYMORPHISM; VARIANT TRP-265;
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.