UniProtKB/Swiss-Prot P47712: Variant p.Arg651Lys

Cytosolic phospholipase A2
Gene: PLA2G4A
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Variant information Variant position:

651 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Lysine (K) at position 651 (R651K, p.Arg651Lys). 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:

Similar physico-chemical property. Both residues are large size and basic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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
Other resources:

Links to websites of interest for the variant.

Variant rs2307198 [ dbSNP | Ensembl ]

Sequence information Variant position:

651 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:

EKDCPTIIHFVLANINFRKY R APGVPRETEEEKEIADFDIF 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                         EKDCPTIIHFVLANINFRKYRAPGVPRETEEEKEIADFDIF

Mouse                         EKDCPTIIHFVLANINFRKYKAPGVLRETKEEKEIADFDIF

Rat                           EKDCPTIIHFVLANINFRKYKAPGVLRETKEEKEIADFDIF

Bovine                        EKDCPTIIHFVLANINFRKYKAPGVPRETNEEKEIADFDIF

Rabbit                        EKDCPIIIHFVLANINFRKYKSPGVPRETKEEKEIADFDIF

Horse                         EKDCPTIIHFVLANINFRKYKAPGVPRETKEEKEIADFDIF

Chicken                       EKDCPTIIHFVLANINFRKYKAPGLPRESKEEKDFADFDIF

Xenopus laevis                EKDCPTVIHFVLANLQFRNFKAPGVPRETTEEKESADFDIF

Xenopus tropicalis            EKDCPTVIHFVLANLQFRNFKAPGVPRETAEEKEFADFDIF

Zebrafish                     -KNCPTIIHFVLANINFRNFKAPGVPRDSDKDIEFGDFDIF

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 – 749	Cytosolic phospholipase A2
Domain	140 – 740	PLA2c
Mutagenesis	634 – 634	C -> A. No effect on phospholipase activity; when associated with A-620.
Beta strand	650 – 652

Literature citations
A novel arachidonic acid-selective cytosolic PLA2 contains a Ca(2+)-dependent translocation domain with homology to PKC and GAP.
Clark J.D.; Lin L.-L.; Kriz R.W.; Ramesha C.S.; Sultzman L.A.; Lin A.Y.; Milona N.; Knopf J.L.;
Cell 65:1043-1051(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; PARTIAL PROTEIN SEQUENCE; VARIANT LYS-651; Molecular cloning and expression of human Ca(2+)-sensitive cytosolic phospholipase A2.
Sharp J.; White D.; Chiou G.; Goodson T.; Gamboa G.; McClure D.; Burgett S.; Hoskins J.; Skatrud P.; Sportsman J.; Becker G.; Kang L.; Roberts E.; Kramer R.;
J. Biol. Chem. 266:14850-14853(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT LYS-651; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-224 AND LYS-651; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT LYS-651; 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.