UniProtKB/Swiss-Prot P20849: Variant p.Gln621Arg

Collagen alpha-1(IX) chain
Gene: COL9A1
Feedback?

Variant information Variant position:

621 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 Glutamine (Q) to Arginine (R) at position 621 (Q621R, p.Gln621Arg). 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.

Variant rs1135056 [ dbSNP | Ensembl ]

Sequence information Variant position:

621 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:

GNSGKPGQQGPPGEVGPRGP Q GLPGSRGELGPVGSPGLPGK 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                         GNSGKPGQQGPPGEVGPRGPQGLPGSRGELGPVGSPGLPGK

Mouse                         GSSGKPGQQGPPGEVGPRGPRGLPGSRGPVGPEGSPGIPGK

Chicken                       GNSGKPGEQGPEGEAGPTGPRGPPGSRGEPGPAGPPGLPGK

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	587 – 643	Collagen-like 6
Region	254 – 759	Disordered
Region	418 – 756	Triple-helical region (COL2)
Alternative sequence	329 – 921	Missing. In isoform 3.

Literature citations
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; A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
Czarny-Ratajczak M.; Lohiniva J.; Rogala P.; Kozlowski K.; Peraelae M.; Carter L.; Spector T.D.; Kolodziej L.; Seppaenen U.; Glazar R.; Krolewski J.; Latos-Bielenska A.; Ala-Kokko L.;
Am. J. Hum. Genet. 69:969-980(2001)
Cited for: VARIANTS PRO-339 AND ARG-621; INVOLVEMENT IN EDM6;

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.