UniProtKB/SwissProt variant VAR

Variant information

Variant position:

89

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 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
Metal binding	88 – 88	Iron (heme proximal ligand)
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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P69905: Variant p.Ala89Ser