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UniProtKB/Swiss-Prot Q8N2K0: Variant p.Thr253Arg

Lysophosphatidylserine lipase ABHD12
Gene: ABHD12
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Variant information Variant position: help 253
Type of variant: help LP/P [Disclaimer]
Residue change: help From Threonine (T) to Arginine (R) at position 253 (T253R, p.Thr253Arg).
Physico-chemical properties: help Change from medium size and polar (T) to large size and basic (R)
BLOSUM score: help -1
Variant description: help In PHARC; abolished monoacyglycerol lipase activity.
Other resources: help


Sequence information Variant position: help 253
Protein sequence length: help 398
Location on the sequence: help ARSGDNPVYIWGHSLGTGVA T NLVRRLCERETPPDALILES
Residue conservation: help 
Human                         ARSGDNPVYIWGHSLGTGVATNLVRRLCERETPPDALILES

Mouse                         ARSGDNPVYIWGHSLGTGVATNLVRRLCERETPPDALILES

Rat                           ARSGDNPVYIWGHSLGTGVATNLVRRLCERETPPDALILES

Bovine                        VRSGDNPVYIWGHSLGTGVATNLVRRLCERETPPDALILES

Chicken                       ARSGDNPVYIWGHSLGTGVATNLVRRLCERETPPEALILES

Xenopus tropicalis            ARSGDNPVYIWGHSLGTGVATNLVRRLCERETPPDSLILES

Zebrafish                     QRIGPKPLYIWGHSLGTGVATNLVRRLCDRGTPPDALILES
Sequence annotation in neighborhood: help
TypePositionsDescription
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.