UniProtKB/Swiss-Prot P68871: Variant p.Ala130Val

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 130 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 Alanine (A) to Valine (V) at position 130 (A130V, p.Ala130Val). 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 small size and hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 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
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 La Desirade; O(2) affinity down; unstable. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs111645889 [ dbSNP | Ensembl ]

Sequence information

Variant position: 130 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: VLVCVLAHHFGKEFTPPVQA A YQKVVAGVANALAHKYH 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
Domain	3 – 147	Globin
Binding site	144 – 144
Site	129 – 130	(Microbial infection) Cleavage; by N.americanus apr-2
Modified residue	145 – 145	N6-acetyllysine; alternate
Glycosylation	121 – 121	N-linked (Glc) (glycation) lysine
Glycosylation	145 – 145	N-linked (Glc) (glycation) lysine; alternate
Helix	125 – 143

Literature citations

Hemoglobin La Desirade alpha A2 beta 2 129 (H7) Ala-->Val: a new unstable hemoglobin.
Merault G.; Keclard L.; Garin J.; Poyart C.; Blouquit Y.; Arous N.; Galacteros F.; Feingold J.; Rosa J.;
Hemoglobin 10:593-605(1986)
Cited for: VARIANT LA DESIRADE VAL-130;