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UniProtKB/Swiss-Prot P69905 : Variant p.His59Tyr
Hemoglobin subunit alpha
Gene: HBA2
Variant information
Variant position: 59 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/BThe 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: 2The 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.
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-DLSHGSAQVKGH GKKVADALTNAVAHVDDMPN
Gorilla TTKTYFPHF-DLSHGSAQVKGH GKKVADALTNAVAHVDDMP
Rhesus macaque TTKTYFPHF-DLSHGSAQVKGH GKKVADALTLAVGHVDDMP
Chimpanzee TTKTYFPHF-DLSHGSAQVKGH GKKVADALTNAVAHVDDMP
Mouse TTKTYFPHF-DVSHGSAQVKGH GKKVADALASAAGHLDDLP
Rat TTKTYFSHI-DVSPGSAQVKAH GKKVADALAKAADHVEDLP
Pig TTKTYFPHF-NLSHGSDQVKAH GQKVADALTKAVGHLDDLP
Bovine TTKTYFPHF-DLSHGSAQVKGH GAKVAAALTKAVEHLDDLP
Rabbit TTKTYFPHF-DFTHGSEQIKAH GKKVSEALTKAVGHLDDLP
Sheep TTKTYFPHF-DLSHGSAQVKGH GEKVAAALTKAVGHLDDLP
Cat TTKTYFPHF-DLSHGSAQVKAH GQKVADALTQAVAHMDDLP
Horse TTKTYFPHF-DLSHGSAQVKAH GKKVGDALTLAVGHLDDLP
Chicken PTKTYFPHF-DLSHGSAQIKGH GKKVVAALIEAANHIDDIA
Xenopus tropicalis KTKTYFPDF-DFSEHSKHILAH GKKVSDALNEACNHLDNIA
Zebrafish QTKTYFSHWADLSPGSGPVKKH GKTIMGAVGEAISKIDDLV
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
distal binding residue
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;
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.