UniProtKB/Swiss-Prot P00736: Variant p.Ser152Leu

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 152 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 Serine (S) to Leucine (L) at position 152 (S152L, p.Ser152Leu). 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 small size and polar (S) to medium size and hydrophobic (L) 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
Polymorphism: Complement component C1r deficiency [MIM:216950] leads to the failure of the classical complement system activation pathway (C1 deficiency). Individuals with C1 deficiency are highly susceptible to infections by microorganisms and have greater risk in developing autoimmune diseases such as systemic lupus erythematosus (SLE). Additional information on the polymorphism described.
Other resources: Links to websites of interest for the variant.

• Variant rs1801046 [ dbSNP | Ensembl ]

Sequence information

Variant position: 152 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: KGFLAYYQAVDLDECASRSK S GEEDPQPQCQHLCHNYVGGY 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.

Type	Positions	Description
Chain	18 – 705	Complement C1r subcomponent
Chain	18 – 463	Complement C1r subcomponent heavy chain
Domain	142 – 190	EGF-like; calcium-binding
Modified residue	167 – 167	(3R)-3-hydroxyasparagine
Disulfide bond	146 – 165
Turn	150 – 152

Literature citations

Cloning and sequencing of full-length cDNA encoding the precursor of human complement component C1r.
Journet A.; Tosi M.;
Biochem. J. 240:783-787(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS LEU-152 AND ARG-186; The human complement component C1R gene: the exon-intron structure and the molecular basis of allelic diversity.
Nakagawa M.; Yuasa I.; Irizawa Y.; Umetsu K.;
Ann. Hum. Genet. 67:207-215(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HIS-131; LEU-152; TYR-163; LYS-184; ARG-186 AND ARG-261; 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 LEU-152 AND ARG-186; A common amino acid polymorphism in complement component C1R.
Nothen M.M.; Dewald G.;
Hum. Mol. Genet. 3:217-217(1994)
Cited for: VARIANT LEU-152;