UniProtKB/SwissProt variant VAR

Variant information

Variant position:

63

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 Valine (V) to Methionine (M) at position 63 (V63M, p.Val63Met).

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:

Similar physico-chemical property. Both residues are medium size and hydrophobic.

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 Evans; unstable.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs41515649 [ dbSNP | Ensembl ]

Sequence information

Variant position:

63

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:

YFPHFDLSHGSAQVKGHGKK V ADALTNAVAHVDDMPNALSA

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                         YFPHF-DLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSA

Gorilla                       YFPHF-DLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALS

                              YFPHF-DLSPGSAQVKAHGKKVADALTTAVAHLDDLPGALS

Rhesus macaque                YFPHF-DLSHGSAQVKGHGKKVADALTLAVGHVDDMPNALS

Chimpanzee                    YFPHF-DLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALS

Mouse                         YFPHF-DVSHGSAQVKGHGKKVADALASAAGHLDDLPGALS

Rat                           YFSHI-DVSPGSAQVKAHGKKVADALAKAADHVEDLPGALS

Pig                           YFPHF-NLSHGSDQVKAHGQKVADALTKAVGHLDDLPGALS

Bovine                        YFPHF-DLSHGSAQVKGHGAKVAAALTKAVEHLDDLPGALS

Rabbit                        YFPHF-DFTHGSEQIKAHGKKVSEALTKAVGHLDDLPGALS

Sheep                         YFPHF-DLSHGSAQVKGHGEKVAAALTKAVGHLDDLPGTLS

Cat                           YFPHF-DLSHGSAQVKAHGQKVADALTQAVAHMDDLPTAMS

Horse                         YFPHF-DLSHGSAQVKAHGKKVGDALTLAVGHLDDLPGALS

Chicken                       YFPHF-DLSHGSAQIKGHGKKVVAALIEAANHIDDIAGTLS

Xenopus tropicalis            YFPDF-DFSEHSKHILAHGKKVSDALNEACNHLDNIAGCLS

Zebrafish                     YFSHWADLSPGSGPVKKHGKTIMGAVGEAISKIDDLVGGLA

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)
Site	57 – 57	Not glycated
Site	61 – 61	Not glycated
Modified residue	50 – 50	Phosphoserine
Glycosylation	62 – 62	N-linked (Glc) (glycation) lysine
Helix	54 – 72

Literature citations

Unstable Hb 'Evans' (GTG->ATG/Val 62 Met) was detected on the alpha-2 globin gene of an Hispanic girl.
Kutlar F.; Elam D.; Hoff J.V.; Holley L.; Kutlar A.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (HBA2); VARIANT EVANS MET-63;

Hb Evans or alpha 262(E11)Val-->Met beta 2; an unstable hemoglobin causing a mild hemolytic anemia.
Wilson J.B.; Webber B.B.; Kutlar A.; Reese A.L.; McKie V.C.; Lutcher C.L.; Felice A.E.; Huisman T.H.J.;
Hemoglobin 13:557-566(1989)
Cited for: VARIANT EVANS MET-63;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P69905: Variant p.Val63Met