UniProtKB/Swiss-Prot Q8N2K0: Variant p.Thr202Ile

Lysophosphatidylserine lipase ABHD12
Gene: ABHD12
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Variant information Variant position:

202 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Isoleucine (I) at position 202 (T202I, p.Thr202Ile). 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 medium size and hydrophobic (I) 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; uncertain significance; abolished monoacyglycerol lipase activity. Any additional useful information about the variant.

Sequence information Variant position:

202 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:

GGDHRVELYKVLSSLGYHVV T FDYRGWGDSVGTPSERGMTY 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                         GGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTY

Mouse                         GGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTY

Rat                           GGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTY

Bovine                        GGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTY

Chicken                       GGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGSPSERGMTY

Xenopus tropicalis            GGDHRVQLYKVLSSMGYHVISFDYRGWGDSVGSPSESGMTY

Zebrafish                     GGDHRVQLYKVLSSLGYHVVTFDYRGWGDSEGSPSERGMTS

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

Literature citations
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
Nishiguchi K.M.; Avila-Fernandez A.; van Huet R.A.; Corton M.; Perez-Carro R.; Martin-Garrido E.; Lopez-Molina M.I.; Blanco-Kelly F.; Hoefsloot L.H.; van Zelst-Stams W.A.; Garcia-Ruiz P.J.; Del Val J.; Di Gioia S.A.; Klevering B.J.; van de Warrenburg B.P.; Vazquez C.; Cremers F.P.; Garcia-Sandoval B.; Hoyng C.B.; Collin R.W.; Rivolta C.; Ayuso C.;
Ophthalmology 121:1620-1627(2014)
Cited for: VARIANTS PHARC 159-TRP--HIS-398 DEL; PRO-186; ILE-202 AND GLN-372; 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;

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.