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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60733: Variant p.Ala341Thr

85/88 kDa calcium-independent phospholipase A2
Gene: PLA2G6
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Variant information Variant position: help 341 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Alanine (A) to Threonine (T) at position 341 (A341T, p.Ala341Thr). 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: help Change from small size and hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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: help In NBIA2A; complete loss of phospholipase and lysophospholipase activities. Any additional useful information about the variant.


Sequence information Variant position: help 341 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 806 The length of the canonical sequence.
Location on the sequence: help LHVAVMRNRFDCAIVLLTHG A NADARGEHGNTPLHLAMSKD 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LHVAVMRNRFDCAIVLLTHGANADARGEHGNTPLHLAMSKD

Mouse                         LHVAVMRNRFDCVMVLLTYGANAGARGEHGNTPLHLAMSKD

Rat                           LHVAVTRNRFDCVMVLLTYGANAGARGEHGNTPLHLAMSKD
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 806 85/88 kDa calcium-independent phospholipase A2
Repeat 316 – 345 ANK 6



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.