UniProtKB/Swiss-Prot P16070: Variant p.Lys417Arg

CD44 antigen
Gene: CD44
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Variant information Variant position:

417 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 Arginine (R) at position 417 (K417R, p.Lys417Arg). 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:

Similar physico-chemical property. Both residues are large size and basic. 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.
Other resources:

Links to websites of interest for the variant.

Variant rs9666607 [ dbSNP | Ensembl ]

Sequence information Variant position:

417 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:

ATQKEQWFGNRWHEGYRQTP K EDSHSTTGTAAASAHTSHPM 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                         ATQKEQWFGNRWHEGYRQTPKEDSHSTTGTAAASAHTSHPM

Mouse                         ATQQETWFQNGWQGKNPPTPSEDSHVTEGT-TASAHNNHPS

Rat                           ATQKEKWFENEWQGKNPPTPSEDSHVTEGT-TASAHNNHPS

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

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

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
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	224 – 472	Missing. In isoform 10, isoform 13 and isoform 14.
Alternative sequence	386 – 428	Missing. In isoform 6, isoform 16 and isoform 17.

Literature citations
Genomic structure of DNA encoding the lymphocyte homing receptor CD44 reveals at least 12 alternatively spliced exons.
Screaton G.R.; Bell M.V.; Jackson D.G.; Cornelis F.B.; Gerth U.; Bell J.I.;
Proc. Natl. Acad. Sci. U.S.A. 89:12160-12164(1992)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; ALTERNATIVE SPLICING; VARIANTS ARG-417 AND THR-479; 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; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 12); VARIANTS ARG-417 AND THR-479; CD44 splice variants confer metastatic behavior in rats: homologous sequences are expressed in human tumor cell lines.
Hofmann M.; Rudy W.; Zoeller M.; Toelg C.; Ponta H.; Herrlich P.; Guenthert U.;
Cancer Res. 51:5292-5297(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 267-603 (ISOFORM 1); VARIANT ARG-417;

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.