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UniProtKB/Swiss-Prot P69905: Variant p.His104Tyr

Hemoglobin subunit alpha
Gene: HBA2
Variant information

Variant position:  104
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Histidine (H) to Tyrosine (Y) at position 104 (H104Y, p.His104Tyr).
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 Charolles.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  104
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:   LSDLHAHKLRVDPVNFKLLS  H CLLVTLAAHLPAEFTPAVHA
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                         LSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHA

Gorilla                       LSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHA

                              LSDLHAYKLRVDPVNFKLLSHCLLVTLACHHPTEFTPAVHA

Rhesus macaque                LSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHA

Chimpanzee                    LSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHA

Mouse                         LSDLHAHKLRVDPVNFKLLSHCLLVTLASHHPADFTPAVHA

Rat                           LSDLHAHKLRVDPVNFKFLSHCLLVTLACHHPGDFTPAMHA

Pig                           LSDLHAHKLRVDPVNFKLLSHCLLVTLAAHHPDDFNPSVHA

Bovine                        LSDLHAHKLRVDPVNFKLLSHSLLVTLASHLPSDFTPAVHA

Rabbit                        LSDLHAHKLRVDPVNFKLLSHCLLVTLANHHPSEFTPAVHA

Sheep                         LSDLHAHKLRVDPVNFKLLSHSLLVTLACHLPNDFTPAVHA

Cat                           LSDLHAYKLRVDPVNFKFLSHCLLVTLACHHPAEFTPAVHA

Horse                         LSDLHAHKLRVDPVNFKLLSHCLLSTLAVHLPNDFTPAVHA

Chicken                       LSDLHAHKLRVDPVNFKLLGQCFLVVVAIHHPAALTPEVHA

Xenopus tropicalis            LSDLHAYDLRVDPGNFPLLAHQILVVVAIHFPKQFDPATHK

Zebrafish                     LSELHAFKLRVDPANFKILSHNVIVVIAMLFPADFTPEVHV

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.

TypePositionsDescription
Chain 2 – 142 Hemoglobin subunit alpha
Metal binding 88 – 88 Iron (heme proximal ligand)
Site 91 – 91 Not glycated
Site 100 – 100 Not glycated
Modified residue 103 – 103 Phosphoserine
Modified residue 109 – 109 Phosphothreonine
Helix 97 – 113


Literature citations

Two new alpha chain variants: Hb Boghe [alpha58(E7)His-->Gln, alpha2], a variant on the distal histidine, and Hb Charolles [alpha103(G10)His-Tyr, alpha1].
Lacan P.; Francina A.; Souillet G.; Aubry M.; Couprie N.; Dementhon L.; Becchi M.;
Hemoglobin 23:345-352(1999)
Cited for: VARIANT BOGHE GLN-59; VARIANT CHAROLLES TYR-104;

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.