UniProtKB/SwissProt variant VAR

Variant information

Variant position:

76

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 Histidine (H) at position 76 (D76H, p.Asp76His).

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 polar (H)

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 Q-Iran.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs281864858 [ dbSNP | Ensembl ]

Sequence information

Variant position:

76

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:

VKGHGKKVADALTNAVAHVD D MPNALSALSDLHAHKLRVDP

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                         VKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDP

Gorilla                       VKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDP

                              VKAHGKKVADALTTAVAHLDDLPGALSALSDLHAYKLRVDP

Rhesus macaque                VKGHGKKVADALTLAVGHVDDMPNALSALSDLHAHKLRVDP

Chimpanzee                    VKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDP

Mouse                         VKGHGKKVADALASAAGHLDDLPGALSALSDLHAHKLRVDP

Rat                           VKAHGKKVADALAKAADHVEDLPGALSTLSDLHAHKLRVDP

Pig                           VKAHGQKVADALTKAVGHLDDLPGALSALSDLHAHKLRVDP

Bovine                        VKGHGAKVAAALTKAVEHLDDLPGALSELSDLHAHKLRVDP

Rabbit                        IKAHGKKVSEALTKAVGHLDDLPGALSTLSDLHAHKLRVDP

Sheep                         VKGHGEKVAAALTKAVGHLDDLPGTLSDLSDLHAHKLRVDP

Cat                           VKAHGQKVADALTQAVAHMDDLPTAMSALSDLHAYKLRVDP

Horse                         VKAHGKKVGDALTLAVGHLDDLPGALSNLSDLHAHKLRVDP

Chicken                       IKGHGKKVVAALIEAANHIDDIAGTLSKLSDLHAHKLRVDP

Xenopus tropicalis            ILAHGKKVSDALNEACNHLDNIAGCLSKLSDLHAYDLRVDP

Zebrafish                     VKKHGKTIMGAVGEAISKIDDLVGGLAALSELHAFKLRVDP

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	59 – 59	Iron (heme b distal ligand)
Metal binding	88 – 88	Iron (heme b proximal ligand)
Site	57 – 57	Not glycated
Site	61 – 61	Not glycated
Site	91 – 91	Not glycated
Glycosylation	62 – 62	N-linked (Glc) (glycation) lysine

Literature citations

No reference for the current variant in UniProtKB/Swiss-Prot.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P69905: Variant p.Asp76His