UniProtKB/Swiss-Prot Q8N1D0: Variant p.Gly133Arg

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 133 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 Arginine (R) at position 133 (G133R, p.Gly133Arg). 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 large size and basic (R) 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 rs441071 [ dbSNP | Ensembl ]

Sequence information

Variant position: 133 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 253 The length of the canonical sequence.
Location on the sequence: FSPDGPAGSAASIWPAEGAE G LPGQLGRDRLEVVYSVPDNV 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.
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 – 253	Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene B protein

Literature citations

Divergently transcribed overlapping genes expressed in liver and kidney and located in the 11p15.5 imprinted domain.
Cooper P.R.; Smilinich N.J.; Day C.D.; Nowak N.J.; Reid L.H.; Pearsall R.S.; Reece M.; Prawitt D.; Landers J.; Housman D.E.; Winterpacht A.; Zabel B.U.; Pelletier J.; Weissman B.E.; Shows T.B.; Higgins M.J.;
Genomics 49:38-51(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ASP-89 AND ARG-133; Transcriptional map of 170-kb region at chromosome 11p15.5: identification and mutational analysis of the BWR1A gene reveals the presence of mutations in tumor samples.
Schwienbacher C.; Sabbioni S.; Campi M.; Veronese A.; Bernardi G.; Menegatti A.; Hatada I.; Mukai T.; Ohashi H.; Barbanti-Brodano G.; Croce C.M.; Negrini M.;
Proc. Natl. Acad. Sci. U.S.A. 95:3873-3878(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ASP-89 AND ARG-133; TISSUE SPECIFICITY;