UniProtKB/Swiss-Prot P69905: Variant p.Lys57Arg

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position:

57 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 Lysine (K) to Arginine (R) at position 57 (K57R, p.Lys57Arg). 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:

Similar physico-chemical property. Both residues are large size and basic. 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
Variant description:

In Port Huron. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs281864841 [ dbSNP | Ensembl ]

Sequence information Variant position:

57 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

142 The length of the canonical sequence.
Location on the sequence:

FPTTKTYFPHFDLSHGSAQV K GHGKKVADALTNAVAHVDDM 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                         FPTTKTYFPHF-DLSHGSAQVKGHGKKVADALTNAVAHVDDM

Gorilla                       FPTTKTYFPHF-DLSHGSAQVKGHGKKVADALTNAVAHVDD

                              FPTTKTYFPHF-DLSPGSAQVKAHGKKVADALTTAVAHLDD

Rhesus macaque                FPTTKTYFPHF-DLSHGSAQVKGHGKKVADALTLAVGHVDD

Chimpanzee                    FPTTKTYFPHF-DLSHGSAQVKGHGKKVADALTNAVAHVDD

Mouse                         FPTTKTYFPHF-DVSHGSAQVKGHGKKVADALASAAGHLDD

Rat                           FPTTKTYFSHI-DVSPGSAQVKAHGKKVADALAKAADHVED

Pig                           FPTTKTYFPHF-NLSHGSDQVKAHGQKVADALTKAVGHLDD

Bovine                        FPTTKTYFPHF-DLSHGSAQVKGHGAKVAAALTKAVEHLDD

Rabbit                        FPTTKTYFPHF-DFTHGSEQIKAHGKKVSEALTKAVGHLDD

Sheep                         FPTTKTYFPHF-DLSHGSAQVKGHGEKVAAALTKAVGHLDD

Cat                           FPTTKTYFPHF-DLSHGSAQVKAHGQKVADALTQAVAHMDD

Horse                         FPTTKTYFPHF-DLSHGSAQVKAHGKKVGDALTLAVGHLDD

Chicken                       YPPTKTYFPHF-DLSHGSAQIKGHGKKVVAALIEAANHIDD

Xenopus tropicalis            APKTKTYFPDF-DFSEHSKHILAHGKKVSDALNEACNHLDN

Zebrafish                     YPQTKTYFSHWADLSPGSGPVKKHGKTIMGAVGEAISKIDD

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	2 – 142	Hemoglobin subunit alpha
Binding site	59 – 59
Site	56 – 57	(Microbial infection) Cleavage; by N.americanus apr-2
Site	57 – 57	Not glycated
Site	61 – 61	Not glycated
Modified residue	41 – 41	N6-succinyllysine; alternate
Modified residue	50 – 50	Phosphoserine
Glycosylation	41 – 41	N-linked (Glc) (glycation) lysine; alternate
Glycosylation	62 – 62	N-linked (Glc) (glycation) lysine
Helix	54 – 72

Literature citations
Hb Port Huron [alpha 56 (E5)Lys-->Arg]: a new alpha chain variant.
Zwerdling T.; Williams S.; Nasr S.A.; Rucknagel D.L.;
Hemoglobin 15:381-391(1991)
Cited for: VARIANT PORT HURON ARG-57;

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.