UniProtKB/Swiss-Prot Q01804: Variant p.Ala216Thr

OTU domain-containing protein 4
Gene: OTUD4
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Variant information Variant position:

216 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 Alanine (A) to Threonine (T) at position 216 (A216T, p.Ala216Thr). 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 hydrophobic (A) to medium size and polar (T) 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
Other resources:

Links to websites of interest for the variant.

Variant rs36225838 [ dbSNP | Ensembl ]

Sequence information Variant position:

216 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1114 The length of the canonical sequence.
Location on the sequence:

EDNSEISDSEDDSCKSKTAA A AADVNGFKPLSGNEQLKNNG 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.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         EDNSEISDSEDDSCKSKTAAAAADVNGFKPLSGNEQLKNNG

Mouse                         ESNSEISDSEDDSCKSKS-TAATDVNGFKP-SGSENPKNNG

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 – 1114	OTU domain-containing protein 4
Modified residue	199 – 199	Phosphoserine
Modified residue	202 – 202	Phosphoserine
Modified residue	204 – 204	Phosphoserine
Alternative sequence	211 – 1114	Missing. In isoform 4.
Alternative sequence	231 – 231	Missing. In isoform 2.
Mutagenesis	181 – 550	Missing. Abolishes interaction with USP7 and USP9X deubiquitinases.
Mutagenesis	202 – 202	S -> A. Decreases 'Lys-63'-specific deubiquitinase activity. Loss of 'Lys-63'-specific deubiquitinase activity; when associated with A-204.
Mutagenesis	204 – 204	S -> A. Loss of 'Lys-63'-specific deubiquitinase activity; when associated with A-204.

Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; ALTERNATIVE SPLICING (ISOFORM 2); VARIANTS GLY-194 AND THR-216;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.