UniProtKB/Swiss-Prot P69905: Variant p.Leu130Pro

Hemoglobin subunit alpha
Gene: HBA2
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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.

Variant rs281864889 [ dbSNP | Ensembl ]

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.

Type	Positions	Description
Chain	2 – 142	Hemoglobin subunit alpha
Domain	2 – 142	Globin
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.