UniProtKB/SwissProt variant VAR

Variant information

Variant position:

253

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

Disease [Disclaimer]

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Threonine (T) to Arginine (R) at position 253 (T253R, p.Thr253Arg).

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 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 PHARC; abolished monoacyglycerol lipase activity.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs772987424 [ dbSNP | Ensembl ]

Sequence information

Variant position:

253

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

398

The length of the canonical sequence.

Location on the sequence:

ARSGDNPVYIWGHSLGTGVA T NLVRRLCERETPPDALILES

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                         ARSGDNPVYIWGHSLGTGVATNLVRRLCERETPPDALILES

Mouse                         ARSGDNPVYIWGHSLGTGVATNLVRRLCERETPPDALILES

Rat                           ARSGDNPVYIWGHSLGTGVATNLVRRLCERETPPDALILES

Bovine                        VRSGDNPVYIWGHSLGTGVATNLVRRLCERETPPDALILES

Chicken                       ARSGDNPVYIWGHSLGTGVATNLVRRLCERETPPEALILES

Xenopus tropicalis            ARSGDNPVYIWGHSLGTGVATNLVRRLCERETPPDSLILES

Zebrafish                     QRIGPKPLYIWGHSLGTGVATNLVRRLCDRGTPPDALILES

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 – 398	Lysophosphatidylserine lipase ABHD12
Topological domain	96 – 398	Extracellular
Active site	246 – 246	Nucleophile
Mutagenesis	246 – 246	S -> A. Loss of lipase activity.

Literature citations

Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.
Tingaud-Sequeira A.; Raldua D.; Lavie J.; Mathieu G.; Bordier M.; Knoll-Gellida A.; Rambeau P.; Coupry I.; Andre M.; Malm E.; Moeller C.; Andreasson S.; Rendtorff N.D.; Tranebjaerg L.; Koenig M.; Lacombe D.; Goizet C.; Babin P.J.;
Neurobiol. Dis. 98:36-51(2017)
Cited for: VARIANT PHARC ARG-253; CHARACTERIZATION OF VARIANTS PHARC ILE-202; ARG-253 AND 352-ARG--HIS-398 DEL;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8N2K0: Variant p.Thr253Arg