UniProtKB/Swiss-Prot P63000: Variant p.Asp63Gly

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 63 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 Aspartate (D) to Glycine (G) at position 63 (D63G, p.Asp63Gly). 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 medium size and acidic (D) to glycine (G) 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
Other resources: Links to websites of interest for the variant.

• Variant rs5831 [ dbSNP | Ensembl ]

Sequence information

Variant position: 63 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 192 The length of the canonical sequence.
Location on the sequence: NVMVDGKPVNLGLWDTAGQE D YDRLRPLSYPQTDVFLICFS 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 – 189	Ras-related C3 botulinum toxin substrate 1
Binding site	60 – 60
Modified residue	71 – 71	Phosphoserine
Alternative sequence	75 – 75	T -> TVGETYGKDITSRGKDKPIA. In isoform B.
Mutagenesis	56 – 56	W -> A. Strongly reduced interaction with PLCB2.
Mutagenesis	61 – 61	Q -> L. Constitutively active. Interacts with PARD6 proteins. Interacts with PPP5C, activates its phosphatase activity and translocates PPP5C to the plasma membrane. No effect on interaction with RAPH1. Interacts with CYRIB. No interaction with PPP5C; when associated with V-30 or S-35. Translocates to the plasma membrane; also when associated with V-30 or S-35.
Mutagenesis	67 – 67	L -> A. Strongly reduced interaction with PLCB2.
Mutagenesis	70 – 70	L -> A. Strongly reduced interaction with PLCB2.
Mutagenesis	71 – 71	S -> A. Loss of AKT-mediated phosphorylation and FBXL19-induced polyubiquitination.
Helix	62 – 64

Literature citations

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