UniProtKB/Swiss-Prot P69905: Variant p.His46Gln

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position:

46 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 Histidine (H) to Glutamine (Q) at position 46 (H46Q, p.His46Gln). 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 medium size and polar. 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 Bari. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs281860624 [ dbSNP | Ensembl ]

Sequence information Variant position:

46 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:

GAEALERMFLSFPTTKTYFP H FDLSHGSAQVKGHGKKVADA 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                         GAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVADA

Gorilla                       GAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVAD

                              GGEALDRTFQSFPTTKTYFPHF-DLSPGSAQVKAHGKKVAD

Rhesus macaque                GAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVAD

Chimpanzee                    GAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVAD

Mouse                         GAEALERMFASFPTTKTYFPHF-DVSHGSAQVKGHGKKVAD

Rat                           GEEALQRMFAAFPTTKTYFSHI-DVSPGSAQVKAHGKKVAD

Pig                           GAEALERMFLGFPTTKTYFPHF-NLSHGSDQVKAHGQKVAD

Bovine                        GAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGAKVAA

Rabbit                        GAEAVERMFLGFPTTKTYFPHF-DFTHGSEQIKAHGKKVSE

Sheep                         GAEALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGEKVAA

Cat                           GAEALERTFCSFPTTKTYFPHF-DLSHGSAQVKAHGQKVAD

Horse                         GAEALERMFLGFPTTKTYFPHF-DLSHGSAQVKAHGKKVGD

Chicken                       GAETLERMFTTYPPTKTYFPHF-DLSHGSAQIKGHGKKVVA

Xenopus tropicalis            GGEALHRMFMCAPKTKTYFPDF-DFSEHSKHILAHGKKVSD

Zebrafish                     GAEALARMLTVYPQTKTYFSHWADLSPGSGPVKKHGKTIMG

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
Binding site	59 – 59
Site	46 – 47	(Microbial infection) Cleavage; by N.americanus apr-2
Site	57 – 57	Not glycated
Site	61 – 61	Not glycated
Modified residue	36 – 36	Phosphoserine
Modified residue	41 – 41	N6-succinyllysine; alternate
Modified residue	50 – 50	Phosphoserine
Glycosylation	41 – 41	N-linked (Glc) (glycation) lysine; alternate
Glycosylation	62 – 62	N-linked (Glc) (glycation) lysine
Beta strand	45 – 47

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.