Due to maintenance work, this service and ftp://ftp.expasy.org will be unavailable from Tuesday August 23rd 18:00 until Wednesday August 24th 08:00
CEST . Apologies for the inconvenience.
UniProtKB/Swiss-Prot P47712 : Variant p.Ser111Pro
Cytosolic phospholipase A2
Gene: PLA2G4A
Variant information
Variant position: 111 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: USThe 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 Serine (S) to Proline (P) at position 111 (S111P, p.Ser111Pro).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 small size and polar (S) to medium size and hydrophobic (P)The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -1The 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 GURDP; unknown pathological significance.Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.
Sequence information
Variant position: 111 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 749 The length of the canonical sequence.
Location on the sequence:
LMDANYVMDETLGTATFTVS
S MKVGEKKEVPFIFNQVTEMV
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 LMDANYVMDETLGTATFTVSS MKVGEKKEVPFIFNQVTEMV
Mouse LMDANYVMDETLGTATFPVSS MKVGEKKEVPFIFNQVTEMI
Rat LMDANYVMDETLGTATFPVSS MKVGEKKEVPFIFNQVTEMI
Bovine LMDANYVMDETLGTTTFPISS MKVGEKKQVPFIFNQVTEMI
Rabbit LMDANYVMDETLGTATFPVSS MKVGEKKEVPFIFNQVTEMI
Horse LMDANYVMDETLGTATFTLSS MKVGEKKEVPFIFNQVTEMI
Chicken LMDANYVMDETLGMATFPISS LKLGEKKEVQLTFNNVTEMT
Xenopus laevis LMDANYVMDESLGTTTFPILS VKPGEKKQVPFTFNKVTEMI
Xenopus tropicalis LMDANYVMDESLGTTTFPISS VKPGEKKQVPFTFNKVTEMI
Zebrafish LMDANYVMDETLGTAKYSLSK LKVAQMEHVTLSIGKTTKVF
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.
Literature citations
Inherited human cPLA(2alpha) deficiency is associated with impaired eicosanoid biosynthesis, small intestinal ulceration, and platelet dysfunction.
Adler D.H.; Cogan J.D.; Phillips J.A.; Schnetz-Boutaud N.; Milne G.L.; Iverson T.; Stein J.A.; Brenner D.A.; Morrow J.D.; Boutaud O.; Oates J.A.;
J. Clin. Invest. 118:2121-2131(2008)
Cited for: INVOLVEMENT IN GURDP; VARIANTS GURDP PRO-111 AND HIS-485; VARIANT LYS-651; FUNCTION; CATALYTIC ACTIVITY; PATHWAY;
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.