UniProtKB/Swiss-Prot P00738: Variant p.Glu130Lys

Haptoglobin
Gene: HP
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Variant information Variant position:

130 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 Glutamate (E) to Lysine (K) at position 130 (E130K, p.Glu130Lys). 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 (E) to large size and basic (K) 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
Polymorphism:

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:

In allele HP*1F. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs200877317 [ dbSNP | Ensembl ]

Sequence information Variant position:

130 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:

QCKNYYKLRTEGDGVYTLNN E KQWINKAVGDKLPECEAVCG 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:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         QCKNYYKLRTEGDGVYTLNNEKQWINKAVGDKLPECEAVCG

                              QCKPFYKLHTEGDGVYTLNSEKHWTNKAVGEKLPECEAVCG

Mouse                         RCRQFYRLRAEGDGVYTLNDEKQWVNTVAGEKLPECEAVCG

Rat                           RCRQFYKLQTEGDGIYTLNSEKQWVNPAAGDKLPKCEAVCG

Pig                           HCQTYYKLRTAGDGVYTLDSNKQWTNKVTGEKLPECEAVCG

Bovine                        QCKPYYTLRTCGDGVYTFNSKKQWINKNIGQKLPECEAVCG

Rabbit                        QCKNYYRLRTEGDGVYALNSEKQWVNKAVGEQLPECEAVCG

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	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;

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.