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UniProtKB/Swiss-Prot P69905: Variant p.Ala80Gly

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position: help 80 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Alanine (A) to Glycine (G) at position 80 (A80G, p.Ala80Gly). 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: help Change from small size and hydrophobic (A) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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: help In Singapore. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 80 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 142 The length of the canonical sequence.
Location on the sequence: help GKKVADALTNAVAHVDDMPN A LSALSDLHAHKLRVDPVNFK 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         GKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFK

Gorilla                       GKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFK

Rhesus macaque                GKKVADALTLAVGHVDDMPNALSALSDLHAHKLRVDPVNFK

Chimpanzee                    GKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFK

Mouse                         GKKVADALASAAGHLDDLPGALSALSDLHAHKLRVDPVNFK

Rat                           GKKVADALAKAADHVEDLPGALSTLSDLHAHKLRVDPVNFK

Pig                           GQKVADALTKAVGHLDDLPGALSALSDLHAHKLRVDPVNFK

Bovine                        GAKVAAALTKAVEHLDDLPGALSELSDLHAHKLRVDPVNFK

Rabbit                        GKKVSEALTKAVGHLDDLPGALSTLSDLHAHKLRVDPVNFK

Sheep                         GEKVAAALTKAVGHLDDLPGTLSDLSDLHAHKLRVDPVNFK

Cat                           GQKVADALTQAVAHMDDLPTAMSALSDLHAYKLRVDPVNFK

Horse                         GKKVGDALTLAVGHLDDLPGALSNLSDLHAHKLRVDPVNFK

Chicken                       GKKVVAALIEAANHIDDIAGTLSKLSDLHAHKLRVDPVNFK

Xenopus tropicalis            GKKVSDALNEACNHLDNIAGCLSKLSDLHAYDLRVDPGNFP

Zebrafish                     GKTIMGAVGEAISKIDDLVGGLAALSELHAFKLRVDPANFK
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 2 – 142 Hemoglobin subunit alpha
Binding site 88 – 88 proximal binding residue
Site 61 – 61 Not glycated
Site 91 – 91 Not glycated
Site 100 – 100 Not glycated
Glycosylation 62 – 62 N-linked (Glc) (glycation) lysine
Helix 77 – 80



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.