UniProtKB/Swiss-Prot P27169: Variant p.Leu55Met

Serum paraoxonase/arylesterase 1
Gene: PON1
Feedback?

Variant information Variant position:

55 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 Leucine (L) to Methionine (M) at position 55 (L55M, p.Leu55Met). 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 medium size and hydrophobic. 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
Polymorphism:

The allelic form of the enzyme with Gln-192 (allozyme A) hydrolyzes paraoxon with a low turnover number and the one with Arg-192 (allozyme B) with a high turnover number. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs854560 [ dbSNP | Ensembl ]

Sequence information Variant position:

55 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

355 The length of the canonical sequence.
Location on the sequence:

QPVELPNCNLVKGIETGSED L EILPNGLAFISSGLKYPGIK 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                         QPVELPNCNLVKGIETGSEDLEILPNGLAFISSGLKYPGIK

Mouse                         TPVELPNCNLVKGIETGAEDLEILPNGLTFFSTGLKYPGIK

Rat                           TPVDLPNCTLVKGIEAGAEDLEILPNGLTFFSTGLKYPGIK

Rabbit                        TPVELPNCNLVKGIDNGSEDLEILPNGLAFISAGLKYPGIM

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	2 – 355	Serum paraoxonase/arylesterase 1
Binding site	53 – 53
Binding site	54 – 54
Disulfide bond	42 – 353	In form B
Beta strand	54 – 57

Literature citations
Characterization of cDNA clones encoding rabbit and human serum paraoxonase: the mature protein retains its signal sequence.
Hassett C.; Richter R.J.; Humbert R.; Chapline C.; Crabb J.W.; Omiecinski C.J.; Furlong C.E.;
Biochemistry 30:10141-10149(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS MET-55 AND ARG-192; Molecular basis for the polymorphic forms of human serum paraoxonase/arylesterase: glutamine or arginine at position 191, for the respective A or B allozymes.
Adkins S.; Gan K.N.; Mody M.; La Du B.N.;
Am. J. Hum. Genet. 52:598-608(1993)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; POLYMORPHISM; VARIANTS MET-55 AND ARG-192; Studies on human serum paraoxonase/arylesterase.
La Du B.N.; Adkins S.; Kuo C.L.; Lipsig D.;
Chem. Biol. Interact. 87:25-34(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; CATALYTIC ACTIVITY; VARIANTS MET-55 AND ARG-192; Human and rabbit paraoxonases: purification, cloning, sequencing, mapping and role of polymorphism in organophosphate detoxification.
Furlong C.E.; Costa L.G.; Hassett C.; Richter R.J.; Sundstrom J.A.; Adler D.A.; Disteche C.M.; Omiecinski C.J.; Chapline C.; Crabb J.W.;
Chem. Biol. Interact. 87:35-48(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS MET-55 AND ARG-192; CHARACTERIZATION; Structural organization of the human PON1 gene.
Clendenning J.B.; Humbert R.; Green E.D.; Wood C.; Traver D.; Furlong C.E.;
Genomics 35:586-589(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT MET-55; Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.; Suzuki Y.; Nishikawa T.; Otsuki T.; Sugiyama T.; Irie R.; Wakamatsu A.; Hayashi K.; Sato H.; Nagai K.; Kimura K.; Makita H.; Sekine M.; Obayashi M.; Nishi T.; Shibahara T.; Tanaka T.; Ishii S.; Yamamoto J.; Saito K.; Kawai Y.; Isono Y.; Nakamura Y.; Nagahari K.; Murakami K.; Yasuda T.; Iwayanagi T.; Wagatsuma M.; Shiratori A.; Sudo H.; Hosoiri T.; Kaku Y.; Kodaira H.; Kondo H.; Sugawara M.; Takahashi M.; Kanda K.; Yokoi T.; Furuya T.; Kikkawa E.; Omura Y.; Abe K.; Kamihara K.; Katsuta N.; Sato K.; Tanikawa M.; Yamazaki M.; Ninomiya K.; Ishibashi T.; Yamashita H.; Murakawa K.; Fujimori K.; Tanai H.; Kimata M.; Watanabe M.; Hiraoka S.; Chiba Y.; Ishida S.; Ono Y.; Takiguchi S.; Watanabe S.; Yosida M.; Hotuta T.; Kusano J.; Kanehori K.; Takahashi-Fujii A.; Hara H.; Tanase T.-O.; Nomura Y.; Togiya S.; Komai F.; Hara R.; Takeuchi K.; Arita M.; Imose N.; Musashino K.; Yuuki H.; Oshima A.; Sasaki N.; Aotsuka S.; Yoshikawa Y.; Matsunawa H.; Ichihara T.; Shiohata N.; Sano S.; Moriya S.; Momiyama H.; Satoh N.; Takami S.; Terashima Y.; Suzuki O.; Nakagawa S.; Senoh A.; Mizoguchi H.; Goto Y.; Shimizu F.; Wakebe H.; Hishigaki H.; Watanabe T.; Sugiyama A.; Takemoto M.; Kawakami B.; Yamazaki M.; Watanabe K.; Kumagai A.; Itakura S.; Fukuzumi Y.; Fujimori Y.; Komiyama M.; Tashiro H.; Tanigami A.; Fujiwara T.; Ono T.; Yamada K.; Fujii Y.; Ozaki K.; Hirao M.; Ohmori Y.; Kawabata A.; Hikiji T.; Kobatake N.; Inagaki H.; Ikema Y.; Okamoto S.; Okitani R.; Kawakami T.; Noguchi S.; Itoh T.; Shigeta K.; Senba T.; Matsumura K.; Nakajima Y.; Mizuno T.; Morinaga M.; Sasaki M.; Togashi T.; Oyama M.; Hata H.; Watanabe M.; Komatsu T.; Mizushima-Sugano J.; Satoh T.; Shirai Y.; Takahashi Y.; Nakagawa K.; Okumura K.; Nagase T.; Nomura N.; Kikuchi H.; Masuho Y.; Yamashita R.; Nakai K.; Yada T.; Nakamura Y.; Ohara O.; Isogai T.; Sugano S.;
Nat. Genet. 36:40-45(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT MET-55;

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.