UniProtKB/SwissProt variant VAR

Variant information

Variant position:

86

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 Valine (V) at position 86 (D86V, p.Asp86Val).

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 medium size and hydrophobic (V)

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 Inkster; O(2) affinity up.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs41331747 [ dbSNP | Ensembl ]

Sequence information

Variant position:

86

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:

ALTNAVAHVDDMPNALSALS D LHAHKLRVDPVNFKLLSHCL

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                         ALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCL

Gorilla                       ALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCL

                              ALTTAVAHLDDLPGALSALSDLHAYKLRVDPVNFKLLSHCL

Rhesus macaque                ALTLAVGHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCL

Chimpanzee                    ALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCL

Mouse                         ALASAAGHLDDLPGALSALSDLHAHKLRVDPVNFKLLSHCL

Rat                           ALAKAADHVEDLPGALSTLSDLHAHKLRVDPVNFKFLSHCL

Pig                           ALTKAVGHLDDLPGALSALSDLHAHKLRVDPVNFKLLSHCL

Bovine                        ALTKAVEHLDDLPGALSELSDLHAHKLRVDPVNFKLLSHSL

Rabbit                        ALTKAVGHLDDLPGALSTLSDLHAHKLRVDPVNFKLLSHCL

Sheep                         ALTKAVGHLDDLPGTLSDLSDLHAHKLRVDPVNFKLLSHSL

Cat                           ALTQAVAHMDDLPTAMSALSDLHAYKLRVDPVNFKFLSHCL

Horse                         ALTLAVGHLDDLPGALSNLSDLHAHKLRVDPVNFKLLSHCL

Chicken                       ALIEAANHIDDIAGTLSKLSDLHAHKLRVDPVNFKLLGQCF

Xenopus tropicalis            ALNEACNHLDNIAGCLSKLSDLHAYDLRVDPGNFPLLAHQI

Zebrafish                     AVGEAISKIDDLVGGLAALSELHAFKLRVDPANFKILSHNV

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 b proximal ligand)
Site	91 – 91	Not glycated
Site	100 – 100	Not glycated
Modified residue	103 – 103	Phosphoserine
Helix	82 – 90

Literature citations

Haemoglobin Inkster (alpha2 85aspartic acid leads to valine beta2) coexisting with beta-thalassaemia in a Caucasian family.
Reed R.E.; Winter W.P.; Rucknagel D.L.;
Br. J. Haematol. 26:475-484(1974)
Cited for: VARIANT INKSTER VAL-86;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P69905: Variant p.Asp86Val