UniProtKB/Swiss-Prot P69905: Variant p.Ala27Val

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position:

27 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 Valine (V) at position 27 (A27V, p.Ala27Val). 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 hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 Campinas. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs281864822 [ dbSNP | Ensembl ]

Sequence information Variant position:

27 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:

DKTNVKAAWGKVGAHAGEYG A EALERMFLSFPTTKTYFPHF 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                         DKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHF-

Gorilla                       DKTNVKAAWGKVGAHAGDYGAEALERMFLSFPTTKTYFPHF

                              DKTNIKSTWDKIGGHAGDYGGEALDRTFQSFPTTKTYFPHF

Rhesus macaque                DKSNVKAAWGKVGGHAGEYGAEALERMFLSFPTTKTYFPHF

Chimpanzee                    DKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHF

Mouse                         DKSNIKAAWGKIGGHGAEYGAEALERMFASFPTTKTYFPHF

Rat                           DKTNIKNCWGKIGGHGGEYGEEALQRMFAAFPTTKTYFSHI

Pig                           DKANVKAAWGKVGGQAGAHGAEALERMFLGFPTTKTYFPHF

Bovine                        DKGNVKAAWGKVGGHAAEYGAEALERMFLSFPTTKTYFPHF

Rabbit                        DKTNIKTAWEKIGSHGGEYGAEAVERMFLGFPTTKTYFPHF

Sheep                         DKSNVKAAWGKVGGNAGAYGAEALERMFLSFPTTKTYFPHF

Cat                           DKSNVKACWGKIGSHAGEYGAEALERTFCSFPTTKTYFPHF

Horse                         DKTNVKAAWSKVGGHAGEYGAEALERMFLGFPTTKTYFPHF

Chicken                       DKNNVKGIFTKIAGHAEEYGAETLERMFTTYPPTKTYFPHF

Xenopus tropicalis            DKKHIKAIWPSVAAHGDKYGGEALHRMFMCAPKTKTYFPDF

Zebrafish                     DKAVVKAIWAKISPKADEIGAEALARMLTVYPQTKTYFSHW

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
Domain	2 – 142	Globin
Site	12 – 12	Not glycated
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
Screening for mutations in human alpha-globin genes by nonradioactive single-strand conformation polymorphism.
Jorge S.B.; Melo M.B.; Costa F.F.; Sonati M.F.;
Braz. J. Med. Biol. Res. 36:1471-1474(2003)
Cited for: VARIANT CAMPINAS VAL-27; VARIANT WEST ONE GLY-127;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.