Variant position: 87 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1560 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 PRIQRLNELEAQTRVKLNYL DQIAKFWEIQGSSLKIPNVER
Mouse PRIQRLNELEAQTRVKLNYL DQIAKFWEIQGSSLKIPNVER
Pig PRIQRLNELE---------- ---------------------
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 – 1560 Lysine-specific demethylase 5C
79 – 169 ARID
77 – 117 Missing. In isoform 3 and isoform 4.
82 – 94
The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.
Tahiliani M.; Mei P.; Fang R.; Leonor T.; Rutenberg M.; Shimizu F.; Li J.; Rao A.; Shi Y.;
Cited for: FUNCTION; SUBUNIT; MUTAGENESIS OF HIS-514; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS MRXSCJ GLY-87; TYR-402 AND CYS-751;
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
Tzschach A.; Lenzner S.; Moser B.; Reinhardt R.; Chelly J.; Fryns J.-P.; Kleefstra T.; Raynaud M.; Turner G.; Ropers H.-H.; Kuss A.; Jensen L.R.;
Hum. Mutat. 27:389-389(2006)
Cited for: VARIANTS MRXSCJ GLY-87; LEU-642; TRP-750 AND CYS-751;
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