UniProtKB/Swiss-Prot Q70CQ2: Variant p.Met661Thr

Ubiquitin carboxyl-terminal hydrolase 34
Gene: USP34
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Variant information Variant position:

661 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 Methionine (M) to Threonine (T) at position 661 (M661T, p.Met661Thr). 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 hydrophobic (M) to medium size and polar (T) 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 rs6722430 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

3546 The length of the canonical sequence.
Location on the sequence:

DLRNRKLESQAGICLGDSQG M SERNGTSSGTGKDLVFNTES 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                         DLRNRKLESQAGICLGDSQGMSERNGTSSGTGKDLVFNTES

Mouse                         ELRNRKLENPAGICLGESQGTSERNGTNSGTGKDLVFNTEP

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 – 3546	Ubiquitin carboxyl-terminal hydrolase 34
Region	550 – 679	Disordered
Compositional bias	660 – 679	Polar residues
Modified residue	649 – 649	Phosphoserine

Literature citations
Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases.
Quesada V.; Diaz-Perales A.; Gutierrez-Fernandez A.; Garabaya C.; Cal S.; Lopez-Otin C.;
Biochem. Biophys. Res. Commun. 314:54-62(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); TISSUE SPECIFICITY; ENZYME ACTIVITY; VARIANT THR-661; Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
Nagase T.; Ishikawa K.; Miyajima N.; Tanaka A.; Kotani H.; Nomura N.; Ohara O.;
DNA Res. 5:31-39(1998)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); VARIANT THR-661; ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
Matsuoka S.; Ballif B.A.; Smogorzewska A.; McDonald E.R. III; Hurov K.E.; Luo J.; Bakalarski C.E.; Zhao Z.; Solimini N.; Lerenthal Y.; Shiloh Y.; Gygi S.P.; Elledge S.J.;
Science 316:1160-1166(2007)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-649; VARIANT [LARGE SCALE ANALYSIS] THR-661; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

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.