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 ARSGDNPVYIWGHSLGTGVAT NLVRRLCERETPPDALILES
Mouse ARSGDNPVYIWGHSLGTGVAT NLVRRLCERETPPDALILES
Rat ARSGDNPVYIWGHSLGTGVAT NLVRRLCERETPPDALILES
Bovine VRSGDNPVYIWGHSLGTGVAT NLVRRLCERETPPDALILES
Chicken ARSGDNPVYIWGHSLGTGVAT NLVRRLCERETPPEALILES
Xenopus tropicalis ARSGDNPVYIWGHSLGTGVAT NLVRRLCERETPPDSLILES
Zebrafish QRIGPKPLYIWGHSLGTGVAT NLVRRLCDRGTPPDALILES
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;
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.