Variant position: 1751 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2025 The length of the canonical sequence.
Location on the sequence:
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 ELSFPACNTVHPELLPESSG DDGQGLVTSASDVTGNHAALH
Mouse EVSFPGCSTIHPQFLSESSG HEDPGLVACVDSMTG---AVL
Rat ELLFPACSMIHPQLLSESSR HEDHGLVACVDSMTG---AVL
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
1 – 2025 E3 ubiquitin-protein ligase TTC3
Identification of a novel human gene containing the tetratricopeptide repeat domain from the Down syndrome region of chromosome 21.
Ohira M.; Ootsuyama A.; Suzuki E.; Ichikawa H.; Seki N.; Nagase T.; Nomura N.; Ohki M.;
DNA Res. 3:9-16(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM TPRDI); VARIANT HIS-1751;
Identification and cloning of a novel cDNA belonging to tetratricopeptide repeat gene family from Down syndrome-critical region 21q22.2.
Tsukahara F.; Hattori M.; Muraki T.; Sakaki Y.;
J. Biochem. 120:820-827(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS TPRDI; TPRDII AND TPRDIII); VARIANT HIS-1751;
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