UniProtKB/Swiss-Prot P46087: Variant p.Leu73Ser

28S rRNA (cytosine(4447)-C(5))-methyltransferase
Gene: NOP2
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Variant information Variant position:

73 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 Serine (S) at position 73 (L73S, p.Leu73Ser). 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 medium size and hydrophobic (L) to small size and polar (S) 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 rs1128164 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

KRRLGSVEAPKTNKSPEAKP L PGKLPKGISAGAVQTAGKKG 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                         KRRLGSVEAPKTNKSPEAKPLPGKLPKGISAGAVQTAGKKG

Mouse                         KRRAGSVDVPKPNKSPGIKTLPGELSK----GAVQA-----

Baker's yeast                 NRKLEKGKRPSTTQGDEVSD---------------------

Fission yeast                 KKRKHSKEKPQNSRKRQLAE---------------------

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 – 812	28S rRNA (cytosine(4447)-C(5))-methyltransferase
Region	1 – 370	N-terminal domain
Region	1 – 211	Disordered
Modified residue	58 – 58	Phosphoserine
Modified residue	67 – 67	Phosphoserine
Cross	71 – 71	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)

Literature citations
Cloning of the cDNA and sequence of the human proliferating-cell nucleolar protein P120.
Fonagy A.; Henning D.; Jhiang S.; Haidar M.A.; Busch R.K.; Larson R.G.; Valdez B.; Busch H.;
Cancer Commun. 1:243-251(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); DEVELOPMENTAL STAGE; VARIANT SER-73; A region of antisense RNA from human p120 cDNA with high homology to mouse p120 cDNA inhibits NIH 3T3 proliferation.
Valdez B.C.; Perlaky L.; Saijo Y.; Henning D.; Zhu C.; Busch R.K.; Zhang W.W.; Busch H.;
Cancer Res. 52:5681-5686(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT SER-73; A probability-based approach for high-throughput protein phosphorylation analysis and site localization.
Beausoleil S.A.; Villen J.; Gerber S.A.; Rush J.; Gygi S.P.;
Nat. Biotechnol. 24:1285-1292(2006)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-732; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; A quantitative atlas of mitotic phosphorylation.
Dephoure N.; Zhou C.; Villen J.; Beausoleil S.A.; Bakalarski C.E.; Elledge S.J.; Gygi S.P.;
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-36; SER-67; SER-181; THR-185; SER-666; SER-675; SER-732; SER-734; THR-739; THR-776; SER-786 AND SER-812; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
Mayya V.; Lundgren D.H.; Hwang S.-I.; Rezaul K.; Wu L.; Eng J.K.; Rodionov V.; Han D.K.;
Sci. Signal. 2:RA46-RA46(2009)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-181; THR-185 AND SER-732; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
Olsen J.V.; Vermeulen M.; Santamaria A.; Kumar C.; Miller M.L.; Jensen L.J.; Gnad F.; Cox J.; Jensen T.S.; Nigg E.A.; Brunak S.; Mann M.;
Sci. Signal. 3:RA3-RA3(2010)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-181; THR-185; SER-732; SER-786 AND SER-812; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
Rigbolt K.T.; Prokhorova T.A.; Akimov V.; Henningsen J.; Johansen P.T.; Kratchmarova I.; Kassem M.; Mann M.; Olsen J.V.; Blagoev B.;
Sci. Signal. 4:RS3-RS3(2011)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-67; SER-181; THR-185; THR-195; SER-732; SER-786 AND SER-801; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; Toward a comprehensive characterization of a human cancer cell phosphoproteome.
Zhou H.; Di Palma S.; Preisinger C.; Peng M.; Polat A.N.; Heck A.J.; Mohammed S.;
J. Proteome Res. 12:260-271(2013)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-58; SER-67; SER-732 AND SER-786; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

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