UniProtKB/Swiss-Prot O43704: Variant p.Leu145Val

Sulfotransferase 1B1
Gene: SULT1B1
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Variant information Variant position:

145 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 Leucine (L) to Valine (V) at position 145 (L145V, p.Leu145Val). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. 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:

Reduces Vmax with p-nitrophenol as substrate; binds to adenosine 3',5'-bisphosphate with a dissociation constant (Kd) value increases 4-fold compared with wild-type; binds to PAPS with a dissociation constant (Kd) value similar to wild-type. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs11569736 [ dbSNP | Ensembl ]

Sequence information Variant position:

145 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

296 The length of the canonical sequence.
Location on the sequence:

KMIYLARNAKDVSVSYYHFD L MNNLQPFPGTWEEYLEKFLT 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                         KMIYLARNAKDVSVSYYHFDLMNNLQPFPGTWEEYLEKFLT

                              KMIYLARNAKDVAVSYYHFDLMNNLEPAPGPWEEYLERFMT

Mouse                         KMIYLARNGKDVAVSYYHFDLMNSINPLPGTWEEYLEKFLA

Rat                           KMIYLARNGKDVAVSYYHFDLMNNIQPLPGTWEEYLEKFLA

Bovine                        KIIYLARNAKDVAVSFYHFDLMNNLQPLPGTWGEYLEKFLT

Chicken                       KMIYVGRNAKDVAVSYYHFDLMNKLHPHPGTWDQYLEAFMA

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	1 – 296	Sulfotransferase 1B1
Binding site	131 – 131
Binding site	139 – 139
Helix	133 – 146

Literature citations
A high frequency missense SULT1B1 allelic variant (L145V) selectively expressed in African descendants exhibits altered kinetic properties.
Tibbs Z.E.; Guidry A.L.; Falany J.L.; Kadlubar S.A.; Falany C.N.;
Xenobiotica 48:79-88(2018)
Cited for: VARIANT VAL-145; CATALYTIC ACTIVITY; FUNCTION; BIOPHYSICOCHEMICAL PROPERTIES; CHARACTERIZATION OF VARIANT VAL-145;

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.