UniProtKB/Swiss-Prot P15531: Variant p.Ser120Gly

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 120 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 Glycine (G) at position 120 (S120G, p.Ser120Gly). 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 glycine (G) 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 a neuroblastoma sample; increased motility of carcinoma cells. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs121917887 [ dbSNP | Ensembl ]

Sequence information

Variant position: 120 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 152 The length of the canonical sequence.
Location on the sequence: KPGTIRGDFCIQVGRNIIHG S DSVESAEKEIGLWFHPEELV 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 – 152	Nucleoside diphosphate kinase A
Active site	118 – 118	Pros-phosphohistidine intermediate
Binding site	105 – 105
Binding site	115 – 115
Modified residue	120 – 120	Phosphoserine
Modified residue	122 – 122	Phosphoserine
Modified residue	125 – 125	Phosphoserine
Cross	100 – 100	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Mutagenesis	118 – 118	H -> F. Loss of serine/threonine kinase activity. Some loss of motility of carcinoma cells.
Mutagenesis	118 – 118	H -> G. Loss of activity.
Mutagenesis	120 – 120	S -> A. Limited increase in motility of carcinoma cells.

Literature citations

Nm23-H1 mutation in neuroblastoma.
Chang C.L.; Zhu X.-X.; Thoraval D.H.; Ungar D.; Rawwas J.; Hora N.; Strahler J.R.; Hanash S.M.;
Nature 370:335-336(1994)
Cited for: VARIANT GLY-120;