UniProtKB/Swiss-Prot P05154: Variant p.Ser64Asn

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 64 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 Asparagine (N) at position 64 (S64N, p.Ser64Asn). 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 polar (N) 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 rs6115 [ dbSNP | Ensembl ]

Sequence information

Variant position: 64 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 406 The length of the canonical sequence.
Location on the sequence: SRRDFTFDLYRALASAAPSQ S IFFSPVSISMSLAMLSLGAG 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	26 – 406	Plasma serine protease inhibitor

Literature citations

Characterization of a cDNA for human protein C inhibitor. A new member of the plasma serine protease inhibitor superfamily.
Suzuki K.; Deyashiki Y.; Nishioka J.; Kurachi K.; Akira M.; Yamamoto S.; Hashimoto S.;
J. Biol. Chem. 262:611-616(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ASN-64; Evidence for a glycine residue at position 316 in human protein C inhibitor.
Meijers J.C.M.; Chung D.W.;
Thromb. Res. 59:389-393(1990)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ASN-64; Organization of the gene coding for human protein C inhibitor (plasminogen activator inhibitor-3). Assignment of the gene to chromosome 14.
Meijers J.C.M.; Chung D.W.;
J. Biol. Chem. 266:15028-15034(1991)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ASN-64; A two-allele polymorphism in protein C inhibitor with varying frequencies in different ethnic populations.
Radtke K.-P.; Greengard J.S.; Fernandez J.A.; Villoutreix B.O.; Griffin J.H.;
Thromb. Haemost. 75:62-69(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS VAL-55; ASN-64 AND GLU-105; Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLY-44; VAL-55; ASN-64; VAL-94; GLU-105; PRO-115 AND ARG-217; 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]; VARIANT ASN-64; Human sperm-egg binding is inhibited by peptides corresponding to core region of an acrosomal serine protease inhibitor.
Moore A.; Penfold L.M.; Johnson J.L.; Latchman D.S.; Moore H.D.;
Mol. Reprod. Dev. 34:280-291(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 27-406; VARIANT ASN-64; The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 28-406; VARIANT ASN-64; Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANTS VAL-55; ASN-64; GLU-105; ALA-121 AND ARG-217;