UniProtKB/Swiss-Prot O60733 : Variant p.Arg632Trp
85/88 kDa calcium-independent phospholipase A2
Gene: PLA2G6
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Variant information
Variant position:
632
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
LP/P [Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]
The 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 Tryptophan (W) at position 632 (R632W, p.Arg632Trp).
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 large size and aromatic (W)
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
-3
The 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:
In NBIA2B; increases phospholipase, lysophospholipase and thioesterase activities.
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
632
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
806
The length of the canonical sequence.
Location on the sequence:
RFNQNVNLRPPAQPSDQLVW
R AARSSGAAPTYFRPNGRFLD
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 RFNQNVNLRPPAQPSDQLVWR AARSSGAAPTYFRPNGRFLD
Mouse RCNQNINLKPPTQPADQLVWR AARSSGAAPTYFRPNGRFLD
Rat RCTPNINLKPPTQPADQLVWR AARSSGAAPTYFRPNGRFLD
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 – 806
85/88 kDa calcium-independent phospholipase A2
Domain
481 – 665
PNPLA
Active site
652 – 652
Proton acceptor
Alternative sequence
480 – 806
Missing. In isoform Ankyrin-iPLA2-1.
Alternative sequence
500 – 806
Missing. In isoform Ankyrin-iPLA2-2.
Literature citations
Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism.
Engel L.A.; Jing Z.; O'Brien D.E.; Sun M.; Kotzbauer P.T.;
PLoS ONE 5:e12897-e12897(2010)
Cited for: FUNCTION; CATALYTIC ACTIVITY; VARIANTS THR-341; CYS-517; TRP-632; ARG-638; VAL-691 DEL; GLN-741; TRP-741; TRP-747 AND 790-TYR--PRO-806 DEL; MUTAGENESIS OF SER-519;
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Morgan N.V.; Westaway S.K.; Morton J.E.; Gregory A.; Gissen P.; Sonek S.; Cangul H.; Coryell J.; Canham N.; Nardocci N.; Zorzi G.; Pasha S.; Rodriguez D.; Desguerre I.; Mubaidin A.; Bertini E.; Trembath R.C.; Simonati A.; Schanen C.; Johnson C.A.; Levinson B.; Woods C.G.; Wilmot B.; Kramer P.; Gitschier J.; Maher E.R.; Hayflick S.J.;
Nat. Genet. 38:752-754(2006)
Cited for: VARIANTS NBIA2B THR-545; TRP-632 AND VAL-691 DEL; VARIANTS NBIA2A GLU-310; THR-341; CYS-517; ARG-638; TRP-741 AND 790-TYR--PRO-806 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.