UniProtKB/Swiss-Prot P69905: Variant p.Asp95Ala

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position:

95 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 Alanine (A) at position 95 (D95A, p.Asp95Ala). 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 small size and hydrophobic (A) 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 Bassett; markedly reduced oxygen affinity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs281864879 [ dbSNP | Ensembl ]

Sequence information Variant position:

95 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:

DDMPNALSALSDLHAHKLRV D PVNFKLLSHCLLVTLAAHLP 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                         DDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLP

Gorilla                       DDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLP

                              DDLPGALSALSDLHAYKLRVDPVNFKLLSHCLLVTLACHHP

Rhesus macaque                DDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLP

Chimpanzee                    DDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLP

Mouse                         DDLPGALSALSDLHAHKLRVDPVNFKLLSHCLLVTLASHHP

Rat                           EDLPGALSTLSDLHAHKLRVDPVNFKFLSHCLLVTLACHHP

Pig                           DDLPGALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHHP

Bovine                        DDLPGALSELSDLHAHKLRVDPVNFKLLSHSLLVTLASHLP

Rabbit                        DDLPGALSTLSDLHAHKLRVDPVNFKLLSHCLLVTLANHHP

Sheep                         DDLPGTLSDLSDLHAHKLRVDPVNFKLLSHSLLVTLACHLP

Cat                           DDLPTAMSALSDLHAYKLRVDPVNFKFLSHCLLVTLACHHP

Horse                         DDLPGALSNLSDLHAHKLRVDPVNFKLLSHCLLSTLAVHLP

Chicken                       DDIAGTLSKLSDLHAHKLRVDPVNFKLLGQCFLVVVAIHHP

Xenopus tropicalis            DNIAGCLSKLSDLHAYDLRVDPGNFPLLAHQILVVVAIHFP

Zebrafish                     DDLVGGLAALSELHAFKLRVDPANFKILSHNVIVVIAMLFP

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
Binding site	88 – 88	proximal binding residue
Site	91 – 91	Not glycated
Site	100 – 100	Not glycated
Modified residue	103 – 103	Phosphoserine
Modified residue	109 – 109	Phosphothreonine

Literature citations
Characterization of hemoglobin Bassett (alpha94Asp-->Ala), a variant with very low oxygen affinity.
Abdulmalik O.; Safo M.K.; Lerner N.B.; Ochotorena J.; Daikhin E.; Lakka V.; Santacroce R.; Abraham D.J.; Asakura T.;
Am. J. Hematol. 77:268-276(2004)
Cited for: VARIANT BASSETT ALA-95; CHARACTERIZATION OF VARIANT BASSETT ALA-95;

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.