UniProtKB/Swiss-Prot O43818: Variant p.Arg8Gly

U3 small nucleolar RNA-interacting protein 2
Gene: RRP9
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Variant information Variant position:

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

US 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 Glycine (G) at position 8 (R8G, p.Arg8Gly). 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 large size and basic (R) to glycine (G) 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
Variant description:

In a breast cancer sample; somatic mutation. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1333637065 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MSATAAA R KRGKPASGAGAGAGAGKRRR 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                         MSATAAARKRGKPASGAGAGAGAGKRRR

Mouse                         MSTAVATRKRAKPAPGPGAAPVAGKRRR

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 – 475	U3 small nucleolar RNA-interacting protein 2
Region	1 – 75	Disordered
Motif	8 – 40	Nuclear localization signal
Modified residue	10 – 10	Omega-N-methylarginine
Modified residue	12 – 12	N6-acetyllysine
Modified residue	25 – 25	N6-acetyllysine
Mutagenesis	12 – 12	K -> Q. Mimics acetylation, leading to impaired rRNA processing; when associated with Q-25.
Mutagenesis	12 – 12	K -> R. Impaired acetylation, leading to promote rRNA processing; when associated with R-25.
Mutagenesis	25 – 25	K -> Q. Mimics acetylation, leading to impaired rRNA processing; when associated with Q-12.
Mutagenesis	25 – 25	K -> R. Impaired acetylation, leading to promote rRNA processing; when associated with R-12.

Literature citations
The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLY-8 AND GLU-342;

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.