UniProtKB/Swiss-Prot P69905: Variant p.His51Arg

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position:

51 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 Arginine (R) at position 51 (H51R, p.His51Arg). 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 polar (H) to large size and basic (R) 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 Aichi; slightly unstable. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs281864835 [ dbSNP | Ensembl ]

Sequence information Variant position:

51 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:

ERMFLSFPTTKTYFPHFDLS H GSAQVKGHGKKVADALTNAV 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                         ERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVADALTNAV

Gorilla                       ERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVADALTNA

                              DRTFQSFPTTKTYFPHF-DLSPGSAQVKAHGKKVADALTTA

Rhesus macaque                ERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVADALTLA

Chimpanzee                    ERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVADALTNA

Mouse                         ERMFASFPTTKTYFPHF-DVSHGSAQVKGHGKKVADALASA

Rat                           QRMFAAFPTTKTYFSHI-DVSPGSAQVKAHGKKVADALAKA

Pig                           ERMFLGFPTTKTYFPHF-NLSHGSDQVKAHGQKVADALTKA

Bovine                        ERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGAKVAAALTKA

Rabbit                        ERMFLGFPTTKTYFPHF-DFTHGSEQIKAHGKKVSEALTKA

Sheep                         ERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGEKVAAALTKA

Cat                           ERTFCSFPTTKTYFPHF-DLSHGSAQVKAHGQKVADALTQA

Horse                         ERMFLGFPTTKTYFPHF-DLSHGSAQVKAHGKKVGDALTLA

Chicken                       ERMFTTYPPTKTYFPHF-DLSHGSAQIKGHGKKVVAALIEA

Xenopus tropicalis            HRMFMCAPKTKTYFPDF-DFSEHSKHILAHGKKVSDALNEA

Zebrafish                     ARMLTVYPQTKTYFSHWADLSPGSGPVKKHGKTIMGAVGEA

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	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	50 – 52

Literature citations
Hemoglobin Aichi [alpha 50(CE8) His----Arg]: a new slightly unstable hemoglobin variant discovered in Japan.
Harano T.; Harano K.; Shibata S.; Ueda S.; Mori H.; Seki M.;
FEBS Lett. 169:297-299(1984)
Cited for: VARIANT AICHI ARG-51;

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.