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UniProtKB/Swiss-Prot P16112: Variant p.Gln2500Arg

Aggrecan core protein
Gene: ACAN
Variant information

Variant position:  2500
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glutamine (Q) to Arginine (R) at position 2500 (Q2500R, p.Gln2500Arg).
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 medium size and polar (Q) to large size and basic (R)
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

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



Sequence information

Variant position:  2500
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2530
The length of the canonical sequence.

Location on the sequence:   FVQRHMPTIRCQPSGHWEEP  Q ITCTDPTTYKRRLQKRSSRH
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                         FVQRHMPTIRCQPSGHWEEPQITCTDPTTYKRRLQKRSSRH

                              FVQRHVPTIRCQPSGHWEKPRITCTDPSTYKRRLQKRSSRA

Mouse                         FVQRHVPTIRCQPSGHWEEPRITCTDPNTYKHRLQKRSMRP

Rat                           FVQRHVPTIRCQPSADWEEPRITCTDPNTYKHRLQKRTMRP

Bovine                        FIQGHVPTIRCQPSGHWEEPRITCTDPATYKRRLQKRSSRP

Chicken                       YIQRHVPTIRCQPNGHWEEPRISCTNPSSYQRRLYKRSPRS

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 17 – 2530 Aggrecan core protein
Chain 393 – 2530 Aggrecan core protein 2
Domain 2445 – 2505 Sushi
Region 2278 – 2530 G3
Disulfide bond 2476 – 2503
Alternative sequence 2445 – 2506 VACGEPPVVEHARTFGQKKDRYEINSLVRYQCTEGFVQRHMPTIRCQPSGHWEEPQITCTDP -> A. In isoform 3.


Literature citations

Age-related changes in the content of the C-terminal region of aggrecan in human articular cartilage.
Dudhia J.; Davidson C.M.; Wells T.M.; Vynios D.H.; Hardingham T.E.; Bayliss M.T.;
Biochem. J. 313:933-940(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1893-2530 (ISOFORM 2); VARIANTS VAL-2079 AND ARG-2500;

A new epidermal growth factor-like domain in the human core protein for the large cartilage-specific proteoglycan. Evidence for alternative splicing of the domain.
Baldwin C.T.; Reginato A.M.; Prockop D.J.;
J. Biol. Chem. 264:15747-15750(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2051-2530 (ISOFORM 1); VARIANTS VAL-2079 AND ARG-2500;

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.