UniProtKB/SwissProt variant VAR

Variant information

Variant position:

2

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 Glutamate (E) at position 2 (V2E, p.Val2Glu).

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 hydrophobic (V) to medium size and acidic (E)

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 Thionville; O(2) affinity down.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs33981821 [ dbSNP | Ensembl ]

Sequence information

Variant position:

2

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:

M V LSPADKTNVKAAWGKVGAHA

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                         MVLSPADKTNVKAAWGKVGAHA

Gorilla                       -VLSPADKTNVKAAWGKVGAHA

                              -VLSPADKTNIKSTWDKIGGHA

Rhesus macaque                MVLSPADKSNVKAAWGKVGGHA

Chimpanzee                    MVLSPADKTNVKAAWGKVGAHA

Mouse                         MVLSGEDKSNIKAAWGKIGGHG

Rat                           MVLSADDKTNIKNCWGKIGGHG

Pig                           -VLSAADKANVKAAWGKVGGQA

Bovine                        MVLSAADKGNVKAAWGKVGGHA

Rabbit                        MVLSPADKTNIKTAWEKIGSHG

Sheep                         MVLSAADKSNVKAAWGKVGGNA

Cat                           -VLSAADKSNVKACWGKIGSHA

Horse                         MVLSAADKTNVKAAWSKVGGHA

Chicken                       MVLSAADKNNVKGIFTKIAGHA

Xenopus tropicalis            MHLTADDKKHIKAIWPSVAAHG

Zebrafish                     MSLSDTDKAVVKAIWAKISPKA

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
Initiator methionine	1 – 1	Removed
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
Glycosylation	8 – 8	N-linked (Glc) (glycation) lysine; alternate
Glycosylation	17 – 17	N-linked (Glc) (glycation) lysine; alternate

Literature citations

Hb Shenyang (alpha 26 (B7) Ala replaced by Glu): a new unstable variant found in China.
Zeng Y.-T.; Huang S.-Z.; Zhou X.; Qiu X.-K.; Dong Q.; Li M.; Bai J.;
Hemoglobin 6:625-628(1982)
Cited for: VARIANT SHENYANG GLU-27;

Hemoglobin Thionville. An alpha-chain variant with a substitution of a glutamate for valine at NA-1 and having an acetylated methionine NH2 terminus.
Vasseur C.; Blouquit Y.; Kister J.; Prome D.; Kavanaugh J.S.; Rogers P.H.; Guillemin C.; Arnone A.; Galacteros F.; Poyart C.; Rosa J.; Wajcman H.;
J. Biol. Chem. 267:12682-12691(1992)
Cited for: VARIANT THIONVILLE GLU-2;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P69905: Variant p.Val2Glu