UniProtKB/Swiss-Prot P68871: Variant p.Asp48Tyr

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 48 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: 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: 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: 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: -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
Polymorphism: Genetic variations in HBB are involved in resistance to malaria [MIM:611162]. Hemoglobin S (Hb S), which at homozygosity is responsible for sickle cell anemia, is not associated with any clinical abnormality when heterozygous. At heterozygosity, Hb S confers an increase in protection from life-threatening malaria. Additional variants conferring resistance against severe malaria are hemoglobin C (Hb C) and hemoglobin E (Hb E). Additional information on the polymorphism described.
Variant description: In Maputo. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs33932070 [ dbSNP | Ensembl ]

Sequence information

Variant position: 48 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 147 The length of the canonical sequence.
Location on the sequence: ALGRLLVVYPWTQRFFESFG D LSTPDAVMGNPKVKAHGKKV 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.
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.

Type	Positions	Description
Chain	2 – 147	Hemoglobin subunit beta
Binding site	64 – 64	distal binding residue
Site	60 – 60	Not glycated
Modified residue	45 – 45	Phosphoserine
Modified residue	51 – 51	Phosphothreonine
Modified residue	60 – 60	N6-acetyllysine
Glycosylation	67 – 67	N-linked (Glc) (glycation) lysine

Literature citations

Hemoglobin Maputo: a new beta-chain variant (alpha 2 beta 2 47 (CD6) Asp replaced by Tyr) in combination with hemoglobin S, identified by high performance liquid chromatography (HPLC).
Marinucci M.; Boissel J.P.; Massa A.; Wajcman H.; Tentori L.; Labie D.;
Hemoglobin 7:423-433(1983)
Cited for: VARIANT MAPUTO TYR-48;