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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00738: Variant p.Asn129Asp

Haptoglobin
Gene: HP
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Variant information Variant position: help 129 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 Asparagine (N) to Aspartate (D) at position 129 (N129D, p.Asn129Asp). 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 polar (N) to medium size and acidic (D) 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

Polymorphism: help In human populations there are two major allelic forms, alpha-1 (1-1) with 83 residues and alpha-2 (2-2) with 142 residues. These alleles determine 3 possible genotypes, homozygous (1-1 or 2-2) and heterozygous (2-1), and 3 major phenotypes HP*1F/HP*1S and HP*2FS. The two main alleles of HP*1 are called HP*1F (fast) and HP*1S (slow). The alleles exhibit different oligomerization properties. In healthy males, but not in females, the Hp 2-2 phenotype is associated with higher serum iron, decreased antimicrobial and antioxidant capability, and less efficient clearance from the circulation, than Hp 1-1 and 2-1. The sequence displayed in this entry corresponds to allele alpha-2 (2-2). Additional information on the polymorphism described.
Variant description: help In allele HP*1F. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 129 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 406 The length of the canonical sequence.
Location on the sequence: help YQCKNYYKLRTEGDGVYTLN N EKQWINKAVGDKLPECEAVC 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                         YQCKNYYKLRTEGDGVYTLNNEKQWINKAVGDKLPECEAVC

                              YQCKPFYKLHTEGDGVYTLNSEKHWTNKAVGEKLPECEAVC

Mouse                         YRCRQFYRLRAEGDGVYTLNDEKQWVNTVAGEKLPECEAVC

Rat                           YRCRQFYKLQTEGDGIYTLNSEKQWVNPAAGDKLPKCEAVC

Pig                           YHCQTYYKLRTAGDGVYTLDSNKQWTNKVTGEKLPECEAVC

Bovine                        YQCKPYYTLRTCGDGVYTFNSKKQWINKNIGQKLPECEAVC

Rabbit                        YQCKNYYRLRTEGDGVYALNSEKQWVNKAVGEQLPECEAVC

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 19 – 406 Haptoglobin
Chain 19 – 160 Haptoglobin alpha chain
Domain 90 – 147 Sushi 2
Disulfide bond 111 – 145



Literature citations
Characterization of human haptoglobin cDNAs coding for alpha 2FS beta and alpha 1S beta variants.
van der Straten A.; Herzog A.; Cabezon T.; Bollen A.;
FEBS Lett. 168:103-107(1984)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS 29-ALA--GLU-87 DEL; ASP-129 AND LYS-130; Structure and expression of the human haptoglobin locus.
Bensi G.; Raugei G.; Klefenz H.; Cortese R.;
EMBO J. 4:119-126(1985)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ASP-129;
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.