UniProtKB/Swiss-Prot P69905: Variant p.Ser134Arg

Hemoglobin subunit alpha
Gene: HBA2
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Variant information Variant position:

134 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 Serine (S) to Arginine (R) at position 134 (S134R, p.Ser134Arg). 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 polar (S) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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 Val de Marne; O(2) affinity up. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs56308100 [ dbSNP | Ensembl ]
Variant rs55948437 [ dbSNP | Ensembl ]

Sequence information Variant position:

134 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:

LPAEFTPAVHASLDKFLASV S TVLTSKYR 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                         LPAEFTPAVHASLDKFLASVSTVLTSKYR

Gorilla                       LPAEFTPAVHASLDKFLASVSTVLTSKYR

                              HPTEFTPAVHASLDKFFAAVSTVLTSKYR

Rhesus macaque                LPAEFTPAVHASLDKFLASVSTVLTSKYR

Chimpanzee                    LPAEFTPAVHASLDKFLASVSTVLTSKYR

Mouse                         HPADFTPAVHASLDKFLASVSTVLTSKYR

Rat                           HPGDFTPAMHASLDKFLASVSTVLTSKYR

Pig                           HPDDFNPSVHASLDKFLANVSTVLTSKYR

Bovine                        LPSDFTPAVHASLDKFLANVSTVLTSKYR

Rabbit                        HPSEFTPAVHASLDKFLANVSTVLTSKYR

Sheep                         LPNDFTPAVHASLDKFLANVSTVLTSKYR

Cat                           HPAEFTPAVHASLDKFFSAVSTVLTSKYR

Horse                         LPNDFTPAVHASLDKFLSSVSTVLTSKYR

Chicken                       HPAALTPEVHASLDKFLCAVGTVLTAKYR

Xenopus tropicalis            FPKQFDPATHKALDKFLVSVSNVLTSKYR

Zebrafish                     FPADFTPEVHVSVDKFFNNLALALSEKYR

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
Site	134 – 135	(Microbial infection) Cleavage; by N.americanus apr-2
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 Val de Marne [alpha 133(H16)Ser-->Arg]: a new hemoglobin variant with moderate increase in oxygen affinity.
Wacjman H.; Kister J.; M'Rad A.; Marden M.C.; Riou J.; Galacteros F.;
Hemoglobin 17:407-417(1993)
Cited for: VARIANT VAL DE MARNE ARG-134;

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.