UniProtKB/Swiss-Prot P69905: Variant p.Ala131Asp

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position:

131 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 Alanine (A) to Aspartate (D) at position 131 (A131D, p.Ala131Asp). 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:

-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:

In Yuda; O(2) affinity down. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs41528545 [ dbSNP | Ensembl ]

Sequence information Variant position:

131 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:

AAHLPAEFTPAVHASLDKFL A SVSTVLTSKYR 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                         AAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Gorilla                       AAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

                              ACHHPTEFTPAVHASLDKFFAAVSTVLTSKYR

Rhesus macaque                AAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Chimpanzee                    AAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Mouse                         ASHHPADFTPAVHASLDKFLASVSTVLTSKYR

Rat                           ACHHPGDFTPAMHASLDKFLASVSTVLTSKYR

Pig                           AAHHPDDFNPSVHASLDKFLANVSTVLTSKYR

Bovine                        ASHLPSDFTPAVHASLDKFLANVSTVLTSKYR

Rabbit                        ANHHPSEFTPAVHASLDKFLANVSTVLTSKYR

Sheep                         ACHLPNDFTPAVHASLDKFLANVSTVLTSKYR

Cat                           ACHHPAEFTPAVHASLDKFFSAVSTVLTSKYR

Horse                         AVHLPNDFTPAVHASLDKFLSSVSTVLTSKYR

Chicken                       AIHHPAALTPEVHASLDKFLCAVGTVLTAKYR

Xenopus tropicalis            AIHFPKQFDPATHKALDKFLVSVSNVLTSKYR

Zebrafish                     AMLFPADFTPEVHVSVDKFFNNLALALSEKYR

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
Modified residue	125 – 125	Phosphoserine
Modified residue	132 – 132	Phosphoserine
Modified residue	135 – 135	Phosphothreonine
Modified residue	138 – 138	Phosphothreonine
Modified residue	139 – 139	Phosphoserine
Helix	120 – 138

Literature citations
Hb Yuda or alpha 130(H13)Ala-->Asp; a new alpha chain variant with low oxygen affinity.
Fujisawa K.; Hattori Y.; Ohba Y.; Ando S.;
Hemoglobin 16:435-439(1992)
Cited for: VARIANT YUDA ASP-131;

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.