UniProtKB/Swiss-Prot P69905: Variant p.Ala89Ser

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position:

89 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 Serine (S) at position 89 (A89S, p.Ala89Ser). 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 small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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 Loire; O(2) affinity up. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs35239527 [ dbSNP | Ensembl ]

Sequence information Variant position:

89 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:

NAVAHVDDMPNALSALSDLH A HKLRVDPVNFKLLSHCLLVT 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                         NAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVT

Gorilla                       NAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVT

                              TAVAHLDDLPGALSALSDLHAYKLRVDPVNFKLLSHCLLVT

Rhesus macaque                LAVGHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVT

Chimpanzee                    NAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVT

Mouse                         SAAGHLDDLPGALSALSDLHAHKLRVDPVNFKLLSHCLLVT

Rat                           KAADHVEDLPGALSTLSDLHAHKLRVDPVNFKFLSHCLLVT

Pig                           KAVGHLDDLPGALSALSDLHAHKLRVDPVNFKLLSHCLLVT

Bovine                        KAVEHLDDLPGALSELSDLHAHKLRVDPVNFKLLSHSLLVT

Rabbit                        KAVGHLDDLPGALSTLSDLHAHKLRVDPVNFKLLSHCLLVT

Sheep                         KAVGHLDDLPGTLSDLSDLHAHKLRVDPVNFKLLSHSLLVT

Cat                           QAVAHMDDLPTAMSALSDLHAYKLRVDPVNFKFLSHCLLVT

Horse                         LAVGHLDDLPGALSNLSDLHAHKLRVDPVNFKLLSHCLLST

Chicken                       EAANHIDDIAGTLSKLSDLHAHKLRVDPVNFKLLGQCFLVV

Xenopus tropicalis            EACNHLDNIAGCLSKLSDLHAYDLRVDPGNFPLLAHQILVV

Zebrafish                     EAISKIDDLVGGLAALSELHAFKLRVDPANFKILSHNVIVV

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
Helix	82 – 90

Literature citations
Increased oxygen affinity with normal heterotropic effects in hemoglobin Loire [alpha 88(F9)Ala----Ser].
Baklouti F.; Baudin-Chich V.; Kister J.; Marden M.; Teyssier G.; Poyart C.; Delaunay J.; Wajcman H.;
Eur. J. Biochem. 177:307-312(1988)
Cited for: VARIANT LOIRE SER-89;

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.