UniProtKB/SwissProt variant VAR

Variant information

Variant position:

132

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 Proline (P) at position 132 (S132P, p.Ser132Pro).

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 medium size and hydrophobic (P)

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 Questembert; highly unstable; causes alpha-thalassemia.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs63751417 [ dbSNP | Ensembl ]

Sequence information

Variant position:

132

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:

AHLPAEFTPAVHASLDKFLA S VSTVLTSKYR

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                         AHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Gorilla                       AHLPAEFTPAVHASLDKFLASVSTVLTSKYR

                              CHHPTEFTPAVHASLDKFFAAVSTVLTSKYR

Rhesus macaque                AHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Chimpanzee                    AHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Mouse                         SHHPADFTPAVHASLDKFLASVSTVLTSKYR

Rat                           CHHPGDFTPAMHASLDKFLASVSTVLTSKYR

Pig                           AHHPDDFNPSVHASLDKFLANVSTVLTSKYR

Bovine                        SHLPSDFTPAVHASLDKFLANVSTVLTSKYR

Rabbit                        NHHPSEFTPAVHASLDKFLANVSTVLTSKYR

Sheep                         CHLPNDFTPAVHASLDKFLANVSTVLTSKYR

Cat                           CHHPAEFTPAVHASLDKFFSAVSTVLTSKYR

Horse                         VHLPNDFTPAVHASLDKFLSSVSTVLTSKYR

Chicken                       IHHPAALTPEVHASLDKFLCAVGTVLTAKYR

Xenopus tropicalis            IHFPKQFDPATHKALDKFLVSVSNVLTSKYR

Zebrafish                     MLFPADFTPEVHVSVDKFFNNLALALSEKYR

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
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

Unstable alpha-chain hemoglobin variants with factitious beta-thalassemia biosynthetic ratio: Hb Questembert (alpha 131[H14]Ser-->Pro) and Hb Caen (alpha 132[H15]Val-->Gly).
Wajcman H.; Vasseur C.; Blouquit Y.; Rosa J.; Labie D.; Najman A.; Reman O.; Leporrier M.; Galacteros F.;
Am. J. Hematol. 42:367-374(1993)
Cited for: VARIANT QUESTEMBERT PRO-132;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P69905: Variant p.Ser132Pro