UniProtKB/Swiss-Prot P69905: Variant p.Asp48Tyr

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position:

48 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 Aspartate (D) to Tyrosine (Y) at position 48 (D48Y, p.Asp48Tyr). 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 acidic (D) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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 Kurdistan. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs281864834 [ dbSNP | Ensembl ]

Sequence information Variant position:

48 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:

EALERMFLSFPTTKTYFPHF D LSHGSAQVKGHGKKVADALT 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                         EALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVADALT

Gorilla                       EALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVADAL

                              EALDRTFQSFPTTKTYFPHF-DLSPGSAQVKAHGKKVADAL

Rhesus macaque                EALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVADAL

Chimpanzee                    EALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGKKVADAL

Mouse                         EALERMFASFPTTKTYFPHF-DVSHGSAQVKGHGKKVADAL

Rat                           EALQRMFAAFPTTKTYFSHI-DVSPGSAQVKAHGKKVADAL

Pig                           EALERMFLGFPTTKTYFPHF-NLSHGSDQVKAHGQKVADAL

Bovine                        EALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGAKVAAAL

Rabbit                        EAVERMFLGFPTTKTYFPHF-DFTHGSEQIKAHGKKVSEAL

Sheep                         EALERMFLSFPTTKTYFPHF-DLSHGSAQVKGHGEKVAAAL

Cat                           EALERTFCSFPTTKTYFPHF-DLSHGSAQVKAHGQKVADAL

Horse                         EALERMFLGFPTTKTYFPHF-DLSHGSAQVKAHGKKVGDAL

Chicken                       ETLERMFTTYPPTKTYFPHF-DLSHGSAQIKGHGKKVVAAL

Xenopus tropicalis            EALHRMFMCAPKTKTYFPDF-DFSEHSKHILAHGKKVSDAL

Zebrafish                     EALARMLTVYPQTKTYFSHWADLSPGSGPVKKHGKTIMGAV

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	48 – 49	(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

Literature citations
Hb Kurdistan [alpha 47(CE5)Asp-->Tyr], a new alpha chain variant in combination with beta (0)-thalassemia.
Giordano P.C.; Harteveld C.L.; Streng H.; Oosterwijk J.C.; Heister J.G.A.M.; Amons R.; Bernini L.F.;
Hemoglobin 18:11-18(1994)
Cited for: VARIANT KURDISTAN TYR-48;

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.