UniProtKB/SwissProt variant VAR

Variant information

Variant position:

22

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 Aspartate (D) at position 22 (A22D, p.Ala22Asp).

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 (D)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-2

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-Nyanza.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs11548605 [ dbSNP | Ensembl ]

Sequence information

Variant position:

22

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:

VLSPADKTNVKAAWGKVGAH A GEYGAEALERMFLSFPTTKT

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                         VLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKT

Gorilla                       VLSPADKTNVKAAWGKVGAHAGDYGAEALERMFLSFPTTKT

                              VLSPADKTNIKSTWDKIGGHAGDYGGEALDRTFQSFPTTKT

Rhesus macaque                VLSPADKSNVKAAWGKVGGHAGEYGAEALERMFLSFPTTKT

Chimpanzee                    VLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKT

Mouse                         VLSGEDKSNIKAAWGKIGGHGAEYGAEALERMFASFPTTKT

Rat                           VLSADDKTNIKNCWGKIGGHGGEYGEEALQRMFAAFPTTKT

Pig                           VLSAADKANVKAAWGKVGGQAGAHGAEALERMFLGFPTTKT

Bovine                        VLSAADKGNVKAAWGKVGGHAAEYGAEALERMFLSFPTTKT

Rabbit                        VLSPADKTNIKTAWEKIGSHGGEYGAEAVERMFLGFPTTKT

Sheep                         VLSAADKSNVKAAWGKVGGNAGAYGAEALERMFLSFPTTKT

Cat                           VLSAADKSNVKACWGKIGSHAGEYGAEALERTFCSFPTTKT

Horse                         VLSAADKTNVKAAWSKVGGHAGEYGAEALERMFLGFPTTKT

Chicken                       VLSAADKNNVKGIFTKIAGHAEEYGAETLERMFTTYPPTKT

Xenopus tropicalis            HLTADDKKHIKAIWPSVAAHGDKYGGEALHRMFMCAPKTKT

Zebrafish                     SLSDTDKAVVKAIWAKISPKADEIGAEALARMLTVYPQTKT

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
Site	12 – 12	Not glycated
Modified residue	4 – 4	Phosphoserine
Modified residue	8 – 8	N6-succinyllysine; alternate
Modified residue	9 – 9	Phosphothreonine
Modified residue	12 – 12	N6-succinyllysine
Modified residue	17 – 17	N6-acetyllysine; alternate
Modified residue	17 – 17	N6-succinyllysine; alternate
Modified residue	25 – 25	Phosphotyrosine
Modified residue	36 – 36	Phosphoserine
Modified residue	41 – 41	N6-succinyllysine; alternate
Glycosylation	8 – 8	N-linked (Glc) (glycation) lysine; alternate
Glycosylation	17 – 17	N-linked (Glc) (glycation) lysine; alternate
Glycosylation	41 – 41	N-linked (Glc) (glycation) lysine; alternate
Helix	22 – 36

Literature citations

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

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P69905: Variant p.Ala22Asp