UniProtKB/Swiss-Prot P69905: Variant p.Arg32Lys

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position:

32 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 Arginine (R) to Lysine (K) at position 32 (R32K, p.Arg32Lys). 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 large size and basic. 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:

Causes alpha-thalassemia. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs281864543 [ dbSNP | Ensembl ]

Sequence information Variant position:

32 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:

KAAWGKVGAHAGEYGAEALE R MFLSFPTTKTYFPHFDLSHG 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                         KAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHF-DLSHG

Gorilla                       KAAWGKVGAHAGDYGAEALERMFLSFPTTKTYFPHF-DLSH

                              KSTWDKIGGHAGDYGGEALDRTFQSFPTTKTYFPHF-DLSP

Rhesus macaque                KAAWGKVGGHAGEYGAEALERMFLSFPTTKTYFPHF-DLSH

Chimpanzee                    KAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHF-DLSH

Mouse                         KAAWGKIGGHGAEYGAEALERMFASFPTTKTYFPHF-DVSH

Rat                           KNCWGKIGGHGGEYGEEALQRMFAAFPTTKTYFSHI-DVSP

Pig                           KAAWGKVGGQAGAHGAEALERMFLGFPTTKTYFPHF-NLSH

Bovine                        KAAWGKVGGHAAEYGAEALERMFLSFPTTKTYFPHF-DLSH

Rabbit                        KTAWEKIGSHGGEYGAEAVERMFLGFPTTKTYFPHF-DFTH

Sheep                         KAAWGKVGGNAGAYGAEALERMFLSFPTTKTYFPHF-DLSH

Cat                           KACWGKIGSHAGEYGAEALERTFCSFPTTKTYFPHF-DLSH

Horse                         KAAWSKVGGHAGEYGAEALERMFLGFPTTKTYFPHF-DLSH

Chicken                       KGIFTKIAGHAEEYGAETLERMFTTYPPTKTYFPHF-DLSH

Xenopus tropicalis            KAIWPSVAAHGDKYGGEALHRMFMCAPKTKTYFPDF-DFSE

Zebrafish                     KAIWAKISPKADEIGAEALARMLTVYPQTKTYFSHWADLSP

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	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
Modified residue	50 – 50	Phosphoserine
Glycosylation	17 – 17	N-linked (Glc) (glycation) lysine; alternate
Glycosylation	41 – 41	N-linked (Glc) (glycation) lysine; alternate
Helix	22 – 36

Literature citations
Alpha2(CD31 AGG-->AAG, Arg-->Lys) causing non-deletional alpha-thalassemia in a Chinese family with HbH disease.
Zhao Y.; Xu X.;
Haematologica 86:541-542(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT LYS-32;

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.