Home  |  Contact

UniProtKB/Swiss-Prot P00736: Variant p.Asp290Gly

Complement C1r subcomponent
Gene: C1R
Variant information

Variant position:  290
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  US
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 Aspartate (D) to Glycine (G) at position 290 (D290G, p.Asp290Gly).
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 acidic (D) to glycine (G)
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

Variant description:  In EDSPD1; unknown pathological significance.
Any additional useful information about the variant.

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



Sequence information

Variant position:  290
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  705
The length of the canonical sequence.

Location on the sequence:   KQRPPDLDTSSNAVDLLFFT  D ESGDSRGWKLRYTTEIIKCP
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.

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 18 – 705 Complement C1r subcomponent
Chain 18 – 463 Complement C1r subcomponent heavy chain
Domain 193 – 305 CUB 2


Literature citations

Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.
Kapferer-Seebacher I.; Pepin M.; Werner R.; Aitman T.J.; Nordgren A.; Stoiber H.; Thielens N.; Gaboriaud C.; Amberger A.; Schossig A.; Gruber R.; Giunta C.; Bamshad M.; Bjoerck E.; Chen C.; Chitayat D.; Dorschner M.; Schmitt-Egenolf M.; Hale C.J.; Hanna D.; Hennies H.C.; Heiss-Kisielewsky I.; Lindstrand A.; Lundberg P.; Mitchell A.L.; Nickerson D.A.; Reinstein E.; Rohrbach M.; Romani N.; Schmuth M.; Silver R.; Taylan F.; Vandersteen A.; Vandrovcova J.; Weerakkody R.; Yang M.; Pope F.M.; Byers P.H.; Zschocke J.;
Am. J. Hum. Genet. 99:1005-1014(2016)
Cited for: SUBCELLULAR LOCATION; INVOLVEMENT IN EDSPD1; VARIANTS EDSPD1 ASP-50; GLY-290; ASP-297; PRO-300; PRO-301; CYS-302; 306-ILE--CYS-309 DELINS ARG-ARG; TRP-309; ARG-338; PHE-358; CYS-364; TRP-371; 401-ARG--TYR-405 DELINS HIS-VAL-ILE AND ARG-435; CHARACTERIZATION OF VARIANTS EDSPD1 ASP-50; TRP-309 AND TRP-371;

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.