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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P69905: Variant p.Asp48Tyr

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position: help 48 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 Aspartate (D) to Tyrosine (Y) at position 48 (D48Y, p.Asp48Tyr). 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 acidic (D) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 Kurdistan. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 48 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 EALERMFLSFPTTKTYFPHF D LSHGSAQVKGHGKKVADALT 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                         EALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVADALT

Gorilla                       EALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVADAL

                              EALDRTFQSFPTTKTYFPHF-DLSPGSAQVKAHGKKVADAL

Rhesus macaque                EALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVADAL

Chimpanzee                    EALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVADAL

Mouse                         EALERMFASFPTTKTYFPHF-DVSHGSAQVKGHGKKVADAL

Rat                           EALQRMFAAFPTTKTYFSHI-DVSPGSAQVKAHGKKVADAL

Pig                           EALERMFLGFPTTKTYFPHF-NLSHGSDQVKAHGQKVADAL

Bovine                        EALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGAKVAAAL

Rabbit                        EAVERMFLGFPTTKTYFPHF-DFTHGSEQIKAHGKKVSEAL

Sheep                         EALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGEKVAAAL

Cat                           EALERTFCSFPTTKTYFPHF-DLSHGSAQVKAHGQKVADAL

Horse                         EALERMFLGFPTTKTYFPHF-DLSHGSAQVKAHGKKVGDAL

Chicken                       ETLERMFTTYPPTKTYFPHF-DLSHGSAQIKGHGKKVVAAL

Xenopus tropicalis            EALHRMFMCAPKTKTYFPDF-DFSEHSKHILAHGKKVSDAL

Zebrafish                     EALARMLTVYPQTKTYFSHWADLSPGSGPVKKHGKTIMGAV

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 59 – 59 distal binding residue
Site 48 – 49 (Microbial infection) Cleavage; by N.americanus apr-2
Site 57 – 57 Not glycated
Site 61 – 61 Not glycated
Modified residue 36 – 36 Phosphoserine
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



Literature citations
Hb Kurdistan [alpha 47(CE5)Asp-->Tyr], a new alpha chain variant in combination with beta (0)-thalassemia.
Giordano P.C.; Harteveld C.L.; Streng H.; Oosterwijk J.C.; Heister J.G.A.M.; Amons R.; Bernini L.F.;
Hemoglobin 18:11-18(1994)
Cited for: VARIANT KURDISTAN TYR-48;
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.