UniProtKB/Swiss-Prot Q9UPN4: Variant p.Ile70Val

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 70 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 Isoleucine (I) to Valine (V) at position 70 (I70V, p.Ile70Val). 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: Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 3 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 rs752612451 [ dbSNP | Ensembl ]

Sequence information

Variant position: 70 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1083 The length of the canonical sequence.
Location on the sequence: TGSEQKRKVLEATGPGGSQA I NNLRRSNSTTQVSQPRSGSP 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 – 1083	Centrosomal protein of 131 kDa
Region	1 – 250	Interaction with PLK4
Region	1 – 155	Disordered
Compositional bias	65 – 91	Polar residues
Modified residue	78 – 78	Phosphoserine; by MAPKAPK2 and PLK4
Modified residue	89 – 89	Phosphoserine
Mutagenesis	78 – 78	S -> A. Partially reduces in vitro phosphorylation by MAPKAPK2 and decreases binding to 14-3-3. Abolishes in vitro phosphorylation by MAPKAPK2, interaction with 14-3-3 and stress-induced centriolar satellite remodeling; when associated with A-47. Loss of PLK4-mediated phosphorylation. No effect on its localization to centriole and centriolar satellite or on its function in ciliogenesis. Cannot rescue centriolar satellite dispersion defect mediated by deletion of CEP131.
Mutagenesis	78 – 78	S -> D. Phosphomimetic mutant. No effect on its localization to centriole and centriolar satellite or on its function in ciliogenesis. Can rescue centriolar satellite dispersion defect mediated by deletion of CEP131.

Literature citations

No reference for the current variant in UniProtKB/Swiss-Prot.