UniProtKB/SwissProt variant VAR

Variant information

Variant position:

96

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 Proline (P) to Threonine (T) at position 96 (P96T, p.Pro96Thr).

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 hydrophobic (P) to medium size and polar (T)

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 Godavari; O(2) affinity up.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs281864881 [ dbSNP | Ensembl ]

Sequence information

Variant position:

96

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:

DMPNALSALSDLHAHKLRVD P VNFKLLSHCLLVTLAAHLPA

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                         DMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPA

Gorilla                       DMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPA

                              DLPGALSALSDLHAYKLRVDPVNFKLLSHCLLVTLACHHPT

Rhesus macaque                DMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPA

Chimpanzee                    DMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPA

Mouse                         DLPGALSALSDLHAHKLRVDPVNFKLLSHCLLVTLASHHPA

Rat                           DLPGALSTLSDLHAHKLRVDPVNFKFLSHCLLVTLACHHPG

Pig                           DLPGALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHHPD

Bovine                        DLPGALSELSDLHAHKLRVDPVNFKLLSHSLLVTLASHLPS

Rabbit                        DLPGALSTLSDLHAHKLRVDPVNFKLLSHCLLVTLANHHPS

Sheep                         DLPGTLSDLSDLHAHKLRVDPVNFKLLSHSLLVTLACHLPN

Cat                           DLPTAMSALSDLHAYKLRVDPVNFKFLSHCLLVTLACHHPA

Horse                         DLPGALSNLSDLHAHKLRVDPVNFKLLSHCLLSTLAVHLPN

Chicken                       DIAGTLSKLSDLHAHKLRVDPVNFKLLGQCFLVVVAIHHPA

Xenopus tropicalis            NIAGCLSKLSDLHAYDLRVDPGNFPLLAHQILVVVAIHFPK

Zebrafish                     DLVGGLAALSELHAFKLRVDPANFKILSHNVIVVIAMLFPA

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
Metal binding	88 – 88	Iron (heme proximal ligand)
Site	91 – 91	Not glycated
Site	100 – 100	Not glycated
Modified residue	103 – 103	Phosphoserine
Modified residue	109 – 109	Phosphothreonine

Literature citations

Hb Godavari [alpha 95(G2)Pro-->Thr]: a neutral amino acid substitution in the alpha 1 beta 2 interface that modifies the electrophoretic mobility of hemoglobin.
Wajcman H.; Kister J.; Riou J.; Galacteros F.; Girot R.; Maier-Redelsperger M.; Nayudu N.V.S.; Giordano P.C.;
Hemoglobin 22:11-22(1998)
Cited for: VARIANT GODAVARI THR-96;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P69905: Variant p.Pro96Thr