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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P69905: Variant p.His88Arg

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position: help 88 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 Histidine (H) to Arginine (R) at position 88 (H88R, p.His88Arg). 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 medium size and polar (H) to large size and basic (R) 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 Iwata; unstable. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 88 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 TNAVAHVDDMPNALSALSDL H AHKLRVDPVNFKLLSHCLLV 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                         TNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLV

Gorilla                       TNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLV

                              TTAVAHLDDLPGALSALSDLHAYKLRVDPVNFKLLSHCLLV

Rhesus macaque                TLAVGHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLV

Chimpanzee                    TNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLV

Mouse                         ASAAGHLDDLPGALSALSDLHAHKLRVDPVNFKLLSHCLLV

Rat                           AKAADHVEDLPGALSTLSDLHAHKLRVDPVNFKFLSHCLLV

Pig                           TKAVGHLDDLPGALSALSDLHAHKLRVDPVNFKLLSHCLLV

Bovine                        TKAVEHLDDLPGALSELSDLHAHKLRVDPVNFKLLSHSLLV

Rabbit                        TKAVGHLDDLPGALSTLSDLHAHKLRVDPVNFKLLSHCLLV

Sheep                         TKAVGHLDDLPGTLSDLSDLHAHKLRVDPVNFKLLSHSLLV

Cat                           TQAVAHMDDLPTAMSALSDLHAYKLRVDPVNFKFLSHCLLV

Horse                         TLAVGHLDDLPGALSNLSDLHAHKLRVDPVNFKLLSHCLLS

Chicken                       IEAANHIDDIAGTLSKLSDLHAHKLRVDPVNFKLLGQCFLV

Xenopus tropicalis            NEACNHLDNIAGCLSKLSDLHAYDLRVDPGNFPLLAHQILV

Zebrafish                     GEAISKIDDLVGGLAALSELHAFKLRVDPANFKILSHNVIV

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
Domain 2 – 142 Globin
Binding site 88 – 88 proximal binding residue
Site 91 – 91 Not glycated
Site 100 – 100 Not glycated
Modified residue 103 – 103 Phosphoserine
Helix 82 – 90



Literature citations
A case of hemoglobin Iwata [alpha 87(F8)His leads to Arg] in China.
Liu G.Y.; Zhang G.X.; Nie S.Y.; Luo H.Y.; Teng Y.Q.; Liu S.P.; Song M.; Son L.; Chen S.S.; Jia P.C.; Liang C.C.;
Hemoglobin 7:279-282(1983)
Cited for: VARIANT IWATA ARG-88;
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.