UniProtKB/SwissProt variant VAR

Variant information

Variant position:

72

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 Glutamate (E) at position 72 (A72E, p.Ala72Glu).

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 medium size and acidic (E)

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 J-Habana.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs281864853 [ dbSNP | Ensembl ]

Sequence information

Variant position:

72

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:

GSAQVKGHGKKVADALTNAV A HVDDMPNALSALSDLHAHKL

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                         GSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKL

Gorilla                       GSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKL

                              GSAQVKAHGKKVADALTTAVAHLDDLPGALSALSDLHAYKL

Rhesus macaque                GSAQVKGHGKKVADALTLAVGHVDDMPNALSALSDLHAHKL

Chimpanzee                    GSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKL

Mouse                         GSAQVKGHGKKVADALASAAGHLDDLPGALSALSDLHAHKL

Rat                           GSAQVKAHGKKVADALAKAADHVEDLPGALSTLSDLHAHKL

Pig                           GSDQVKAHGQKVADALTKAVGHLDDLPGALSALSDLHAHKL

Bovine                        GSAQVKGHGAKVAAALTKAVEHLDDLPGALSELSDLHAHKL

Rabbit                        GSEQIKAHGKKVSEALTKAVGHLDDLPGALSTLSDLHAHKL

Sheep                         GSAQVKGHGEKVAAALTKAVGHLDDLPGTLSDLSDLHAHKL

Cat                           GSAQVKAHGQKVADALTQAVAHMDDLPTAMSALSDLHAYKL

Horse                         GSAQVKAHGKKVGDALTLAVGHLDDLPGALSNLSDLHAHKL

Chicken                       GSAQIKGHGKKVVAALIEAANHIDDIAGTLSKLSDLHAHKL

Xenopus tropicalis            HSKHILAHGKKVSDALNEACNHLDNIAGCLSKLSDLHAYDL

Zebrafish                     GSGPVKKHGKTIMGAVGEAISKIDDLVGGLAALSELHAFKL

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 distal ligand)
Metal binding	88 – 88	Iron (heme 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
Helix	54 – 72

Literature citations

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

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P69905: Variant p.Ala72Glu