UniProtKB/Swiss-Prot P27635: Variant p.Ser202Asn

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 202 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 Serine (S) to Asparagine (N) at position 202 (S202N, p.Ser202Asn). 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 small size and polar (S) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 1 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: Rescues embryonic brain development when expressed in a zebrafish heterologous system. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs4909 [ dbSNP | Ensembl ]

Sequence information

Variant position: 202 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 214 The length of the canonical sequence.
Location on the sequence: EDMVAEKRLIPDGCGVKYIP S RGPLDKWRALHS 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	2 – 214	Large ribosomal subunit protein uL16
Cross	188 – 188	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)

Literature citations

QM, a putative tumor suppressor, regulates proto-oncogene c-Yes.
Oh H.S.; Kwon H.; Sun S.K.; Yang C.-H.;
J. Biol. Chem. 277:36489-36498(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ASN-202; Loss of heterozygosity and microsatellite instability at the Xq28 and the A/G heterozygosity of the QM gene are associated with ovarian cancer.
Shen X.J.; Ali-Fehmi R.; Weng C.R.; Sarkar F.H.; Grignon D.; Liao D.J.;
Cancer Biol. Ther. 5:523-528(2006)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ASN-202; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ASN-202; A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.
Brooks S.S.; Wall A.L.; Golzio C.; Reid D.W.; Kondyles A.; Willer J.R.; Botti C.; Nicchitta C.V.; Katsanis N.; Davis E.E.;
Genetics 198:723-733(2014)
Cited for: VARIANT MRXS35 GLU-78; CHARACTERIZATION OF VARIANT MRXS35 GLU-78; INVOLVEMENT IN MRXS35; VARIANT ASN-202; CHARACTERIZATION OF VARIANTS ASN-202; MET-206 AND GLN-213; FUNCTION;