UniProtKB/Swiss-Prot P00738: Variant p.Asp397His

Haptoglobin
Gene: HP
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Variant information Variant position:

397 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 Aspartate (D) to Histidine (H) at position 397 (D397H, p.Asp397His). 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 (D) to medium size and polar (H) 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.
Other resources:

Links to websites of interest for the variant.

Variant rs189115161 [ dbSNP | Ensembl ]

Sequence information Variant position:

397 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:

FDKSCAVAEYGVYVKVTSIQ D WVQKTIAEN 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                         FDKSCAVAEYGVYVKVTSIQDWVQKTIAEN

                              FDKSCTVAEYGVYVKVPSVLAWVQETIAGN

Mouse                         FDKSCAVAEYGVYVRATDLKDWVQETMAKN

Rat                           FDKSCAVAEYGVYVRATDLKDWVQETMAKN

Pig                           FDKSCRTAEYGVYVRVTSILDWIQTTIADN

Bovine                        FDKSCAVAEYGVYVKVTSILDWVRKTIANN

Rabbit                        FDKSCTVAEYGVYVKTFNILDWIQKTIASN

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	162 – 406	Haptoglobin beta chain
Domain	162 – 404	Peptidase S1
Helix	396 – 405

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

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.