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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P16070: Variant p.Asp494His

CD44 antigen
Gene: CD44
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Variant information Variant position: help 494 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 Aspartate (D) to Histidine (H) at position 494 (D494H, p.Asp494His). 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 medium size and acidic (D) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help CD44 is responsible for the Indian blood group system. The molecular basis of the In(A)=In1/In(B)=In2 blood group antigens is a single variation in position 46; In(B), the most frequent allele, has Arg-46. Additional information on the polymorphism described.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 494 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 742 The length of the canonical sequence.
Location on the sequence: help DSSHSITLQPTANPNTGLVE D LDRTGPLSMTTQQSNSQSFS 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         DSSHSITLQPTANPNTGLVEDLDRTGPLSMTTQQSNSQSFS

Mouse                         DSSHSTTLQPTAAPNTHLVEDLNRTGPLSVTTPQSHSQNFS

Rat                           -----------------------------------------

Bovine                        -----------------------------------------

Horse                         -----------------------------------------

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 21 – 742 CD44 antigen
Topological domain 21 – 649 Extracellular
Region 224 – 649 Stem
Region 372 – 558 Disordered
Alternative sequence 30 – 742 Missing. In isoform 2.
Alternative sequence 140 – 742 Missing. In isoform 19.
Alternative sequence 223 – 535 Missing. In isoform 11.
Alternative sequence 224 – 604 Missing. In isoform 12, isoform 15 and isoform 18.
Alternative sequence 506 – 506 Q -> R. In isoform 7 and isoform 14.



Literature citations
CD44: a multitude of isoforms with diverse functions.
Gunthert U.;
Curr. Top. Microbiol. Immunol. 184:47-63(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ARG-417; THR-479 AND HIS-494;
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.