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UniProtKB/Swiss-Prot P69905 : Variant p.Ala22Asp
Hemoglobin subunit alpha
Gene: HBA2
Variant information
Variant position: 22 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/BThe 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: -2The 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.
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 VLSPADKTNVKAAWGKVGAHA GEYGAEALERMFLSFPTTKT
Gorilla VLSPADKTNVKAAWGKVGAHA GDYGAEALERMFLSFPTTKT
VLSPADKTNIKSTWDKIGGHA GDYGGEALDRTFQSFPTTKT
Rhesus macaque VLSPADKSNVKAAWGKVGGHA GEYGAEALERMFLSFPTTKT
Chimpanzee VLSPADKTNVKAAWGKVGAHA GEYGAEALERMFLSFPTTKT
Mouse VLSGEDKSNIKAAWGKIGGHG AEYGAEALERMFASFPTTKT
Rat VLSADDKTNIKNCWGKIGGHG GEYGEEALQRMFAAFPTTKT
Pig VLSAADKANVKAAWGKVGGQA GAHGAEALERMFLGFPTTKT
Bovine VLSAADKGNVKAAWGKVGGHA AEYGAEALERMFLSFPTTKT
Rabbit VLSPADKTNIKTAWEKIGSHG GEYGAEAVERMFLGFPTTKT
Sheep VLSAADKSNVKAAWGKVGGNA GAYGAEALERMFLSFPTTKT
Cat VLSAADKSNVKACWGKIGSHA GEYGAEALERTFCSFPTTKT
Horse VLSAADKTNVKAAWSKVGGHA GEYGAEALERMFLGFPTTKT
Chicken VLSAADKNNVKGIFTKIAGHA EEYGAETLERMFTTYPPTKT
Xenopus tropicalis HLTADDKKHIKAIWPSVAAHG DKYGGEALHRMFMCAPKTKT
Zebrafish SLSDTDKAVVKAIWAKISPKA DEIGAEALARMLTVYPQTKT
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.
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.