Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21730: Variant p.Asp2Asn

C5a anaphylatoxin chemotactic receptor 1
Gene: C5AR1
Feedback?
Variant information Variant position: help 2 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 Aspartate (D) to Asparagine (N) at position 2 (D2N, p.Asp2Asn). 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 medium size and acidic (D) to medium size and polar (N) 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 2 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 350 The length of the canonical sequence.
Location on the sequence: help M D SFNYTTPDYGHYDDKDTLDL 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                         MDSFNYTTPD--YGHYDDKDTLDL

Gorilla                       MDSFNYTTPD--YGHYDDKDTL

                              MASMNFSPPE--YPDYGT-ATL

Chimpanzee                    MDSFDYTTPD--YGHYDDKDTL

Mouse                         MDPIDNSSFEINYDHYG---TM

Rat                           MDPISNDSSEITYDYSDG--TP

Zebrafish                     MDDNNSDWTS--YDFGND----

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 1 – 350 C5a anaphylatoxin chemotactic receptor 1
Topological domain 1 – 37 Extracellular
Modified residue 11 – 11 Sulfotyrosine
Modified residue 14 – 14 Sulfotyrosine
Glycosylation 5 – 5 N-linked (GlcNAc...) asparagine
Mutagenesis 2 – 30 Missing. Strongly impairs C5a binding (45,000-fold).
Mutagenesis 2 – 22 Missing. Impairs C5a binding. Strongly impairs C5a binding; when associated with A-27.
Mutagenesis 10 – 10 D -> A. Strongly impairs C5a binding; when associated with A-15; A-16; A-18 and A-21 (PubMed:8182049). Moderately impairs CHIPS binding (PubMed:15542591). Strongly impairs CHIPS binding; when associated with A-15 (PubMed:15542591). Strongly impairs CHIPS binding; when associated with A-18 (PubMed:15542591).
Mutagenesis 11 – 11 Y -> F. Weakly impairs CHIPS binding. Loss of CHIPS binding; when associated with F-14.
Mutagenesis 12 – 12 G -> A. Moderately impairs CHIPS binding.
Mutagenesis 14 – 14 Y -> F. Weakly impairs CHIPS binding (PubMed:15542591). Strongly impairs CHIPS binding (PubMed:21706042). Loss of CHIPS binding; when associated with F-11 (PubMed:21706042).
Mutagenesis 15 – 15 D -> A. Strongly impairs C5a binding; when associated with A-10; A-16; A-18 and A-21 (PubMed:8182049). Moderately impairs CHIPS binding (PubMed:15542591). Strongly impairs CHIPS binding; when associated with A-10 (PubMed:15542591). Strongly impairs CHIPS binding; when associated with A-18 (PubMed:15542591).
Mutagenesis 16 – 16 D -> A. Strongly impairs C5a binding; when associated with A-10; A-15; A-18 and A-21.
Mutagenesis 18 – 18 D -> A. Strongly impairs C5a binding; when associated with A-10; A-15; A-16 and A-21 (PubMed:8182049). Impairs CHIPS binding (PubMed:15542591). Strongly impairs CHIPS binding; when associated with A-10 (PubMed:15542591). Strongly impairs CHIPS binding; when associated with A-15 (PubMed:15542591).
Mutagenesis 21 – 21 D -> A. Strongly impairs C5a binding; when associated with A-10; A-15; A-16 and A-18.



Literature citations
Expression cloning of a receptor for C5a anaphylatoxin on differentiated HL-60 cells.
Boulay F.; Mery L.; Tardif M.; Brouchon L.; Vignais P.;
Biochemistry 30:2993-2999(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ASN-2 AND ASN-279; The chemotactic receptor for human C5a anaphylatoxin.
Gerard N.P.; Gerard C.;
Nature 349:614-617(1991)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANTS ASN-2 AND ASN-279; cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org).
Kopatz S.A.; Aronstam R.S.; Sharma S.V.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS ASN-2 AND ASN-279; Cloning of human full-length CDSs in BD Creator(TM) system donor vector.
Kalnine N.; Chen X.; Rolfs A.; Halleck A.; Hines L.; Eisenstein S.; Koundinya M.; Raphael J.; Moreira D.; Kelley T.; LaBaer J.; Lin Y.; Phelan M.; Farmer A.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS ASN-2 AND ASN-279; 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]; VARIANTS ASN-2 AND ASN-279; Human chemotaxis receptor genes cluster at 19q13.3-13.4. Characterization of the human C5a receptor gene.
Gerard N.P.; Bao L.; Xiao-Ping H.; Eddy R.L. Jr.; Shows T.B.; Gerard C.;
Biochemistry 32:1243-1250(1993)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-3; VARIANT ASN-2;
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.