UniProtKB/Swiss-Prot P20849: Variant p.Arg870Lys

Collagen alpha-1(IX) chain
Gene: COL9A1
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Variant information Variant position:

870 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 Lysine (K) at position 870 (R870K, p.Arg870Lys). 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
Other resources:

Links to websites of interest for the variant.

Variant rs1056921 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

PNGLPGAIGLPGDPGPASYG R NGRDGERGPPGVAGIPGVPG 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                         PNGLPGAIGLPGDPGPASYGRNGRDGERGPPGVAGIPGVPG

Mouse                         PKGLPGAIGLPGDPGPASYGKNGRDGEQGPPGVAGIPGVPG

Chicken                       VKGLPGPRGLPGEPGKPSYGREGRDGVRGPPGVAGQPGIPG

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	24 – 921	Collagen alpha-1(IX) chain
Domain	848 – 899	Collagen-like 10
Region	783 – 905	Disordered
Region	787 – 901	Triple-helical region (COL1)
Alternative sequence	329 – 921	Missing. In isoform 3.

Literature citations
The complete primary structure of two distinct forms of human alpha 1 (IX) collagen chains.
Muragaki Y.; Kimura T.; Ninomiya Y.; Olsen B.R.;
Eur. J. Biochem. 192:703-708(1990)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; ALTERNATIVE SPLICING; VARIANTS LYS-870 AND LEU-882; Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule.
Pihlajamaa T.; Vuoristo M.M.; Annunen S.; Peraelae M.; Prockop D.J.; Ala-Kokko L.;
Matrix Biol. 17:237-241(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); ALTERNATIVE SPLICING; VARIANTS ARG-621; LYS-870 AND LEU-882; Molecular cloning of rat and human type IX collagen cDNA and localization of the alpha 1(IX) gene on the human chromosome 6.
Kimura T.; Mattei M.-G.; Stevens J.W.; Goldring M.B.; Ninomiya Y.; Olsen B.R.;
Eur. J. Biochem. 179:71-78(1989)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 580-820 AND 835-884; VARIANTS LYS-870 AND LEU-882;

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.