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UniProtKB/Swiss-Prot Q9BV23 : Variant p.Arg113His
Monoacylglycerol lipase ABHD6
Gene: ABHD6
Variant information
Variant position: 113 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/BThe 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 Arginine (R) to Histidine (H) at position 113 (R113H, p.Arg113His).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 large size and basic (R) to medium size and polar (H)The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 0The 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: Decreased bis(monoacylglycero)phosphate (BMP) hydrolase activity.Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.
Sequence information
Variant position: 113 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 337 The length of the canonical sequence.
Location on the sequence:
FLPKNLHLVCVDMPGHEGTT
R SSLDDLSIDGQVKRIHQFVE
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 FLPKNLHLVCVDMPGHEGTTR SSLDDLSIDGQVKRIHQFVE
Mouse FLPKNLHLVCVDMPGHEGTTR SSLDDLSIVGQVKRIHQFVE
Rat FLPKNLHLVCVDMPGHEGTTR SSLDDLSIVGQVKRIHQFVE
Bovine FLPKNLHLVCVDMPGHEGTTR SSLDDLSIDGQVKRIHQFVE
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 – 337
Monoacylglycerol lipase ABHD6
Topological domain
30 – 337
Cytoplasmic
Domain
72 – 313
AB hydrolase-1
Literature citations
alpha/beta hydrolase domain-containing 6 (ABHD6) degrades the late endosomal/lysosomal lipid bis(monoacylglycero)phosphate.
Pribasnig M.A.; Mrak I.; Grabner G.F.; Taschler U.; Knittelfelder O.; Scherz B.; Eichmann T.O.; Heier C.; Grumet L.; Kowaliuk J.; Romauch M.; Holler S.; Anderl F.; Wolinski H.; Lass A.; Breinbauer R.; Marsche G.; Brown J.M.; Zimmermann R.;
J. Biol. Chem. 290:29869-29881(2015)
Cited for: FUNCTION; CATALYTIC ACTIVITY; VARIANTS HIS-113; CYS-148; LEU-204; PRO-206 AND VAL-231; CHARACTERIZATION OF VARIANTS HIS-113; CYS-148; LEU-204; PRO-206 AND VAL-231;
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.