UniProtKB/Swiss-Prot P30536: Variant p.Thr147Ala

Translocator protein
Gene: TSPO
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Variant information Variant position:

147 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 Threonine (T) to Alanine (A) at position 147 (T147A, p.Thr147Ala). 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 polar (T) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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:

Associated with higher levels of pregnenolone production by lymphomonocytes and with increased plasma levels of cholesterol-rich low density lipoprotein. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs6971 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

YQVSPLAARLLYPYLAWLAF T TTLNYCVWRDNHGWRGGRRL 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                         YQVSPLAARLLYPYLAWLAFTTTLN--YCVWRDNHGWRGGRRL

Mouse                         HRVSPPAARLLYPYLAWLAFATVLN--YYVWRDNSGRRGGS

Rat                           HRVSPPAARLLYPYLAWLAFATMLN--YYVWRDNSGRRGGS

Pig                           YQVSPLAARLLYPYLAWLAFAATLN--YCVWRDNQGRRGGR

Bovine                        HQVSPPAACLLYPYLAWLAFAGMLN--YRMWQDNQVRRSGR

Sheep                         RQVSPPAACLLYPYLAWLAFAAMLN--YRMWQDNQGRRSGR

Fission yeast                 WPLAPTASKWLIPYLAWLGYAGYLNLGYCLLN---------

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 – 169	Translocator protein
Transmembrane	135 – 155	Helical; Name=5

Literature citations
Molecular cloning and chromosomal localization of a human peripheral-type benzodiazepine receptor.
Riond J.; Mattei M.-G.; Kaghad M.; Dumont X.; Guillemot J.-C.; le Fur G.; Caput D.; Ferrara P.;
Eur. J. Biochem. 195:305-311(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ALA-147 AND HIS-162; FUNCTION; SUBCELLULAR LOCATION; Cloning of human full-length CDSs in BD Creator(TM) system donor vector.
Kalnine N.; Chen X.; Rolfs A.; Halleck A.; Hines L.; Eisenstein S.; Koundinya M.; Raphael J.; Moreira D.; Kelley T.; LaBaer J.; Lin Y.; Phelan M.; Farmer A.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS ALA-147 AND HIS-162; A genome annotation-driven approach to cloning the human ORFeome.
Collins J.E.; Wright C.L.; Edwards C.A.; Davis M.P.; Grinham J.A.; Cole C.G.; Goward M.E.; Aguado B.; Mallya M.; Mokrab Y.; Huckle E.J.; Beare D.M.; Dunham I.;
Genome Biol. 5:R84.1-R84.11(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS ALA-147 AND HIS-162; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ALA-147 AND GLN-169; An association study between two missense variations of the benzodiazepine receptor (peripheral) gene and schizophrenia in a Japanese sample.
Kurumaji A.; Nomoto H.; Yoshikawa T.; Okubo Y.; Toru M.;
J. Neural Transm. 107:491-500(2000)
Cited for: VARIANTS ALA-147 AND HIS-162; No association of two missense variations of the benzodiazepine receptor (peripheral) gene and mood disorders in a Japanese sample.
Kurumaji A.; Nomoto H.; Yamada K.; Yoshikawa T.; Toru M.;
Am. J. Med. Genet. 105:172-175(2001)
Cited for: VARIANTS ALA-147 AND HIS-162; The spontaneous Ala147Thr amino acid substitution within the translocator protein influences pregnenolone production in lymphomonocytes of healthy individuals.
Costa B.; Pini S.; Gabelloni P.; Da Pozzo E.; Abelli M.; Lari L.; Preve M.; Lucacchini A.; Cassano G.B.; Martini C.;
Endocrinology 150:5438-5445(2009)
Cited for: CHARACTERIZATION OF VARIANT ALA-147;

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.