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UniProtKB/Swiss-Prot P69905: Variant p.Leu126Arg

Hemoglobin subunit alpha
Gene: HBA2
Variant information

Variant position:  126
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 Leucine (L) to Arginine (R) at position 126 (L126R, p.Leu126Arg).
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 hydrophobic (L) to large size and basic (R)
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 Plasencia; family with moderate microcytosis and hypochromia.
Any additional useful information about the variant.

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



Sequence information

Variant position:  126
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:   LLVTLAAHLPAEFTPAVHAS  L DKFLASVSTVLTSKYR
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                         LLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Gorilla                       LLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

                              LLVTLACHHPTEFTPAVHASLDKFFAAVSTVLTSKYR

Rhesus macaque                LLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Chimpanzee                    LLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Mouse                         LLVTLASHHPADFTPAVHASLDKFLASVSTVLTSKYR

Rat                           LLVTLACHHPGDFTPAMHASLDKFLASVSTVLTSKYR

Pig                           LLVTLAAHHPDDFNPSVHASLDKFLANVSTVLTSKYR

Bovine                        LLVTLASHLPSDFTPAVHASLDKFLANVSTVLTSKYR

Rabbit                        LLVTLANHHPSEFTPAVHASLDKFLANVSTVLTSKYR

Sheep                         LLVTLACHLPNDFTPAVHASLDKFLANVSTVLTSKYR

Cat                           LLVTLACHHPAEFTPAVHASLDKFFSAVSTVLTSKYR

Horse                         LLSTLAVHLPNDFTPAVHASLDKFLSSVSTVLTSKYR

Chicken                       FLVVVAIHHPAALTPEVHASLDKFLCAVGTVLTAKYR

Xenopus tropicalis            ILVVVAIHFPKQFDPATHKALDKFLVSVSNVLTSKYR

Zebrafish                     VIVVIAMLFPADFTPEVHVSVDKFFNNLALALSEKYR

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
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

A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu-->Arg (alpha2).
Martin G.; Villegas A.; Gonzalez F.A.; Ropero P.; Hojas R.; Polo M.; Mateo M.; Salvador M.; Benavente C.;
Hemoglobin 29:113-117(2005)
Cited for: VARIANT PLASENCIA ARG-126;

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.