Variant position: 372 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 RSFRDFKVQFVPFHSDLGYR HKYIYKSPELPRILREFLGKS
Mouse RSFRDFKVQFIPFHSDLGYR HKYIYKSPELPRILREFLGKS
Rat RSFRDFKVQFIPFHSDLGYR HKYIYKSPELPRILREFLGKS
Bovine RSFRDFKVQFIPFHSDLGYR HKYIYKSPELPRILREFLGKS
Chicken RSFRDYKVQFVPFHTDLGYR HKYIYRSPELPRILREFLGIP
Xenopus tropicalis RSLRDYKVQFVPFHKDLGYR HKYIYRSPELRQILRDFLGNT
Zebrafish KSLNGHKVQFIPFSSSLGYR HKFIYKSPQLPNILSDFLRAP
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
372 – 372 Charge relay system
372 – 372 H -> A. Loss of 2-arachidonoyglycerol hydrolase activity.
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.;
Cited for: VARIANTS PHARC 159-TRP--HIS-398 DEL; PRO-186; ILE-202 AND GLN-372;
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