UniProtKB/Swiss-Prot P00491: Variant p.Gly51Ser

Purine nucleoside phosphorylase
Gene: PNP
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Variant information Variant position:

51 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 Glycine (G) to Serine (S) at position 51 (G51S, p.Gly51Ser). 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 glycine (G) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

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
Other resources:

Links to websites of interest for the variant.

Variant rs1049564 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

CGSGLGGLTDKLTQAQIFDY G EIPNFPRSTVPGHAGRLVFG 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                         CGSGLGGLTDKLTQ----AQIFDYGEIPNFPRSTVPGHAGRLVFG

Mouse                         CGSGLGGLTAHLKE----AQIFDYNEIPNFPQSTVQGHAGR

Rat                           CGSGLGGLTAKLTQ----PQAFDYNEIPNFPQSTVQGHAGR

Bovine                        CGSGLGGLVNKLTQ----AQTFDYSEIPNFPESTVPGHAGR

Drosophila                    ---GEANLDKPIYL----AERMEYAVCTPFGKP-----SDV

Baker's yeast                 CGSGLGGISTKLSRDNPPPVTVPYQDIPGFKKSTVPGHSGT

Fission yeast                 CGSGLGTLASGLSA---PVYEVPYEDIPHFHVSHVPGHASK

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 – 289	Purine nucleoside phosphorylase
Binding site	33 – 33
Binding site	64 – 64
Mutagenesis	64 – 64	H -> W. Reduces catalytic activity towards inosine.
Helix	50 – 52

Literature citations
Human purine nucleoside phosphorylase cDNA sequence and genomic clone characterization.
Williams S.R.; Goddard J.M.; Martin D.W. Jr.;
Nucleic Acids Res. 12:5779-5787(1984)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT SER-51; A human purine nucleoside phosphorylase deficiency caused by a single base change.
Williams S.R.; Gekeler V.; McIvor R.S.; Martin D.W. Jr.;
J. Biol. Chem. 262:2332-2338(1987)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT PNPD LYS-89; VARIANT SER-51; Genetic variation in genes associated with arsenic metabolism: glutathione S-transferase omega 1-1 and purine nucleoside phosphorylase polymorphisms in European and indigenous Americans.
Yu L.; Kalla K.; Guthrie E.; Vidrine A.; Klimecki W.T.;
Environ. Health Perspect. 111:1421-1427(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT SER-51; 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 SER-51; Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency.
Aust M.R.; Andrews L.G.; Barrett M.J.; Norby-Slycord C.J.; Markert M.L.;
Am. J. Hum. Genet. 51:763-772(1992)
Cited for: VARIANT SER-51; VARIANTS PNPD GLY-128 AND PRO-234;

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.