UniProtKB/Swiss-Prot P16070: Variant p.Arg46Pro

CD44 antigen
Gene: CD44
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Variant information Variant position:

46 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 Arginine (R) to Proline (P) at position 46 (R46P, p.Arg46Pro). 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 (R) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

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.
Variant description:

In In(A) antigen. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs369473842 [ dbSNP | Ensembl ]

Sequence information Variant position:

46 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

742 The length of the canonical sequence.
Location on the sequence:

ITCRFAGVFHVEKNGRYSIS R TEAADLCKAFNSTLPTMAQM 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                         ITCRFAGVFHVEKNGRYSISRTEAADLCKAFNSTLPTMAQM

Mouse                         VTCRYAGVFHVEKNGRYSISRTEAADLCQAFNSTLPTMDQM

Rat                           ITCRYAGVFHVEKNGRYSISRTEAADLCEAFNTTLPTMAQM

Bovine                        ITCRYAGVFHVEKNGRYSISKTEAADLCKAFNSTLPTMAQM

Horse                         ITCRYAGVFHVEKNGRYSISRTEAADLCKAFNSTLPTMAQM

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
Chain	21 – 742	CD44 antigen
Topological domain	21 – 649	Extracellular
Domain	32 – 120	Link
Binding site	41 – 41
Glycosylation	57 – 57	N-linked (GlcNAc...) asparagine
Disulfide bond	28 – 129
Alternative sequence	30 – 742	Missing. In isoform 2.
Helix	46 – 55

Literature citations
A blood group-related polymorphism of CD44 abolishes a hyaluronan-binding consensus sequence without preventing hyaluronan binding.
Telen M.J.; Udani M.; Washington M.K.; Levesque M.C.; Lloyd E.; Rao N.;
J. Biol. Chem. 271:7147-7153(1996)
Cited for: VARIANT BLOOD GROUP INDIAN PRO-46;

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.