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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13942: Variant p.Arg1600Gln

Collagen alpha-2(XI) chain
Gene: COL11A2
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Variant information Variant position: help 1600 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Glutamine (Q) at position 1600 (R1600Q, p.Arg1600Gln). 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: help Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help Links to websites of interest for the variant.


Sequence information Variant position: help 1600 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1736 The length of the canonical sequence.
Location on the sequence: help ELPDGEYWVDPNQGCARDAF R VFCNFTAGGETCVTPRDDVT 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         ELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVT

Mouse                         ELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVT

Bovine                        ELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVT

Sequence annotation in neighborhood: help 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 28 – 1736 Collagen alpha-2(XI) chain
Propeptide 1501 – 1736 C-terminal propeptide
Domain 1541 – 1735 Fibrillar collagen NC1
Binding site 1589 – 1589
Binding site 1591 – 1591
Binding site 1592 – 1592
Binding site 1594 – 1594
Binding site 1597 – 1597
Glycosylation 1604 – 1604 N-linked (GlcNAc...) asparagine
Disulfide bond 1571 – 1603
Disulfide bond 1594 – 1594 Interchain
Alternative sequence 291 – 1736 Missing. In isoform 9.



Literature citations
Genetic mapping of ossification of the posterior longitudinal ligament of the spine.
Koga H.; Sakou T.; Taketomi E.; Hayashi K.; Numasawa T.; Harata S.; Yone K.; Matsunaga S.; Otterud B.; Inoue I.; Leppert M.;
Am. J. Hum. Genet. 62:1460-1467(1998)
Cited for: VARIANTS GLY-593; LYS-824; LEU-879; THR-1316 AND GLN-1600;
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.