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:
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 ARSGDNPVYIWGHSLGTGVA TNLVRRLCERETPPDALILES
Mouse ARSGDNPVYIWGHSLGTGVA TNLVRRLCERETPPDALILES
Rat ARSGDNPVYIWGHSLGTGVA TNLVRRLCERETPPDALILES
Bovine VRSGDNPVYIWGHSLGTGVA TNLVRRLCERETPPDALILES
Chicken ARSGDNPVYIWGHSLGTGVA TNLVRRLCERETPPEALILES
Xenopus tropicalis ARSGDNPVYIWGHSLGTGVA TNLVRRLCERETPPDSLILES
Zebrafish QRIGPKPLYIWGHSLGTGVA TNLVRRLCDRGTPPDALILES
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
1 – 398 Lysophosphatidylserine lipase ABHD12
96 – 398 Extracellular
246 – 246 Nucleophile
246 – 246 S -> A. Loss of lipase activity.
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;
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.