UniProtKB/Swiss-Prot P27635: Variant p.Gly161Ser

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 161 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 Glycine (G) to Serine (S) at position 161 (G161S, p.Gly161Ser). 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
Variant description: In MRXS35; uncertain significance. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs1131692041 [ dbSNP | Ensembl ]

Sequence information

Variant position: 161 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: KLQNKEHVIEALRRAKFKFP G RQKIHISKKWGFTKFNADEF 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	175 – 175	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Beta strand	159 – 161

Literature citations

RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.
Thevenon J.; Michot C.; Bole C.; Nitschke P.; Nizon M.; Faivre L.; Munnich A.; Lyonnet S.; Bonnefont J.P.; Portes V.D.; Amiel J.;
Am. J. Med. Genet. A 167A:1908-1912(2015)
Cited for: VARIANT MRXS35 SER-161;