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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P39877: Variant p.Gly45Cys

Phospholipase A2 group V
Gene: PLA2G5
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Variant information Variant position: help 45 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 Glycine (G) to Cysteine (C) at position 45 (G45C, p.Gly45Cys). 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 glycine (G) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In FRFB. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 45 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 138 The length of the canonical sequence.
Location on the sequence: help LKSMIEKVTGKNALTNYGFY G CYCGWGGRGTPKDGTDWCCW 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                         LKSMIEKVTGKNALTNYGFYGCYCGWGGRGTPKDGTDWCCW

Mouse                         LKSMIEKVTGKNAFKNYGFYGCYCGWGGRGTPKDGTDWCCQ

Rat                           LKSMIEKVTGKNAVKNYGFYGCYCGWGGHGTPKDGTDWCCR
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 21 – 138 Phospholipase A2 group V
Binding site 47 – 47
Binding site 49 – 49
Binding site 51 – 51
Mutagenesis 50 – 50 W -> A. Impairs arachidonate release from cell membranes.



Literature citations
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.
Sergouniotis P.I.; Davidson A.E.; Mackay D.S.; Lenassi E.; Li Z.; Robson A.G.; Yang X.; Kam J.H.; Isaacs T.W.; Holder G.E.; Jeffery G.; Beck J.A.; Moore A.T.; Plagnol V.; Webster A.R.;
Am. J. Hum. Genet. 89:782-791(2011)
Cited for: INVOLVEMENT IN FRFB; VARIANTS FRFB CYS-45 AND SER-49; TISSUE SPECIFICITY; Phospholipase A2 group v in benign familial fleck retina in a set of triplets.
Bin N.J.; Heng H.M.; Poh R.; Noor S.M.; Subrayan V.;
Retina 35:1266-1272(2015)
Cited for: INVOLVEMENT IN FRFB; VARIANT FRFB CYS-45;
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.