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UniProtKB/Swiss-Prot P69905: Variant p.Leu130Pro

Hemoglobin subunit alpha
Gene: HBA2
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 Leucine (L) to Proline (P) at position 130 (L130P, p.Leu130Pro).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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

Variant description:  In Tunis-Bizerte; unstable; causes alpha-thalassemia.
Any additional useful information about the variant.

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



Sequence information

Variant position:  130
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:   LAAHLPAEFTPAVHASLDKF  L ASVSTVLTSKYR
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                         LAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Gorilla                       LAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

                              LACHHPTEFTPAVHASLDKFFAAVSTVLTSKYR

Rhesus macaque                LAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Chimpanzee                    LAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Mouse                         LASHHPADFTPAVHASLDKFLASVSTVLTSKYR

Rat                           LACHHPGDFTPAMHASLDKFLASVSTVLTSKYR

Pig                           LAAHHPDDFNPSVHASLDKFLANVSTVLTSKYR

Bovine                        LASHLPSDFTPAVHASLDKFLANVSTVLTSKYR

Rabbit                        LANHHPSEFTPAVHASLDKFLANVSTVLTSKYR

Sheep                         LACHLPNDFTPAVHASLDKFLANVSTVLTSKYR

Cat                           LACHHPAEFTPAVHASLDKFFSAVSTVLTSKYR

Horse                         LAVHLPNDFTPAVHASLDKFLSSVSTVLTSKYR

Chicken                       VAIHHPAALTPEVHASLDKFLCAVGTVLTAKYR

Xenopus tropicalis            VAIHFPKQFDPATHKALDKFLVSVSNVLTSKYR

Zebrafish                     IAMLFPADFTPEVHVSVDKFFNNLALALSEKYR

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 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

Haemoglobin Tunis-Bizerte: a new alpha 1 globin 129 Leu-->Pro unstable variant with thalassaemic phenotype.
Darbellay R.; Mach-Pascual S.; Rose K.; Graf J.; Beris P.;
Br. J. Haematol. 90:71-76(1995)
Cited for: VARIANT TUNIS-BIZERTE PRO-130;

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.