Variant position: 2079 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:
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 PVTHTPQLFESSGKVSTAGD ISGATPVLPGSGVEVSSVPES
Mouse SMTYTPRLFEASGDASASGD LGGAVTNFPGSGIEAS-VPEA
Rat SMTYTPRLFEASGEASASGD LGGPVTIFPGSGVEAS-VPEG
Bovine PVTYTPQLFESSGEASASGD V----PRFPGSGVEVSSVPES
Chicken -TIETSTVHETSGEASA--- -------FPEISIETSTRQEA
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.
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] (ISOFORM 2); VARIANTS LEU-864; ILE-930; THR-939; ALA-1080; ALA-1403; ALA-1508; VAL-1765; VAL-2079 AND GLU-2373;
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;
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.