UniProtKB/SwissProt variant VAR

Variant information

Variant position:

59

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 Histidine (H) to Tyrosine (Y) at position 59 (H59Y, p.His59Tyr).

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 polar (H) to large size and aromatic (Y)

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 M-Boston/M-Osaka; O(2) affinity down.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs281864845 [ dbSNP | Ensembl ]

Sequence information

Variant position:

59

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:

TTKTYFPHFDLSHGSAQVKG H GKKVADALTNAVAHVDDMPN

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                         TTKTYFPHF-DLSHGSAQVKGHGKKVADALTNAVAHVDDMPN

Gorilla                       TTKTYFPHF-DLSHGSAQVKGHGKKVADALTNAVAHVDDMP

                              TTKTYFPHF-DLSPGSAQVKAHGKKVADALTTAVAHLDDLP

Rhesus macaque                TTKTYFPHF-DLSHGSAQVKGHGKKVADALTLAVGHVDDMP

Chimpanzee                    TTKTYFPHF-DLSHGSAQVKGHGKKVADALTNAVAHVDDMP

Mouse                         TTKTYFPHF-DVSHGSAQVKGHGKKVADALASAAGHLDDLP

Rat                           TTKTYFSHI-DVSPGSAQVKAHGKKVADALAKAADHVEDLP

Pig                           TTKTYFPHF-NLSHGSDQVKAHGQKVADALTKAVGHLDDLP

Bovine                        TTKTYFPHF-DLSHGSAQVKGHGAKVAAALTKAVEHLDDLP

Rabbit                        TTKTYFPHF-DFTHGSEQIKAHGKKVSEALTKAVGHLDDLP

Sheep                         TTKTYFPHF-DLSHGSAQVKGHGEKVAAALTKAVGHLDDLP

Cat                           TTKTYFPHF-DLSHGSAQVKAHGQKVADALTQAVAHMDDLP

Horse                         TTKTYFPHF-DLSHGSAQVKAHGKKVGDALTLAVGHLDDLP

Chicken                       PTKTYFPHF-DLSHGSAQIKGHGKKVVAALIEAANHIDDIA

Xenopus tropicalis            KTKTYFPDF-DFSEHSKHILAHGKKVSDALNEACNHLDNIA

Zebrafish                     QTKTYFSHWADLSPGSGPVKKHGKTIMGAVGEAISKIDDLV

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
Metal binding	59 – 59	Iron (heme b distal ligand)
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

Structure of hemoglobin M Boston, a variant with a five-coordinated ferric heme.
Pulsinelli P.D.; Perutz M.F.; Nagel R.L.;
Proc. Natl. Acad. Sci. U.S.A. 70:3870-3874(1973)
Cited for: VARIANT M-BOSTON/M-OSAKA TYR-59;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P69905: Variant p.His59Tyr