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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P69905: Variant p.His123Gln

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position: help 123 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 Glutamine (Q) at position 123 (H123Q, p.His123Gln). 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 Similar physico-chemical property. Both residues are medium size and polar. 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 Westmead. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 123 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 SHCLLVTLAAHLPAEFTPAV H ASLDKFLASVSTVLTSKYR 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                         SHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Gorilla                       SHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

                              SHCLLVTLACHHPTEFTPAVHASLDKFFAAVSTVLTSKYR

Rhesus macaque                SHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Chimpanzee                    SHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Mouse                         SHCLLVTLASHHPADFTPAVHASLDKFLASVSTVLTSKYR

Rat                           SHCLLVTLACHHPGDFTPAMHASLDKFLASVSTVLTSKYR

Pig                           SHCLLVTLAAHHPDDFNPSVHASLDKFLANVSTVLTSKYR

Bovine                        SHSLLVTLASHLPSDFTPAVHASLDKFLANVSTVLTSKYR

Rabbit                        SHCLLVTLANHHPSEFTPAVHASLDKFLANVSTVLTSKYR

Sheep                         SHSLLVTLACHLPNDFTPAVHASLDKFLANVSTVLTSKYR

Cat                           SHCLLVTLACHHPAEFTPAVHASLDKFFSAVSTVLTSKYR

Horse                         SHCLLSTLAVHLPNDFTPAVHASLDKFLSSVSTVLTSKYR

Chicken                       GQCFLVVVAIHHPAALTPEVHASLDKFLCAVGTVLTAKYR

Xenopus tropicalis            AHQILVVVAIHFPKQFDPATHKALDKFLVSVSNVLTSKYR

Zebrafish                     SHNVIVVIAMLFPADFTPEVHVSVDKFFNNLALALSEKYR

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
Site 122 – 123 (Microbial infection) Cleavage; by N.americanus apr-2
Modified residue 103 – 103 Phosphoserine
Modified residue 109 – 109 Phosphothreonine
Modified residue 125 – 125 Phosphoserine
Modified residue 132 – 132 Phosphoserine
Modified residue 135 – 135 Phosphothreonine
Modified residue 138 – 138 Phosphothreonine
Modified residue 139 – 139 Phosphoserine
Helix 120 – 138



Literature citations
Hb Westmead: an alpha 2-globin gene mutation detected by polymerase chain reaction and Stu I cleavage.
Jiang N.H.; Liang S.; Wen X.J.; Liang R.; Su C.; Tang Z.;
Hemoglobin 15:291-295(1991)
Cited for: VARIANT WESTMEAD GLN-123;
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.