Variant position: 1392 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2177 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 NNE---------MNSLLENIAKATIEVFQ QSAETGSS---------SGSTASNMPSSSK
Chimpanzee NNE---------MNSLLENIAKATIEVFQ QSAETGSS----
Mouse NTE---------MNSLLENIAKATIEVFQ QSAETGSS----
Zebrafish NNE---------LYSLLENIAKATIEVFQ KSAEMNSSNPSW
Caenorhabditis elegans GNSRHAQQGAIAADALMSEIGKCCRDMFL SAYKTKIK----
Drosophila NAE---------LNVWLDTVARAAIDVFH MEEVV-------
Slime mold NSTSPTSKQS--QQQQQQQQQKSTTPTLT PATTTTTT----
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 – 2177 Mediator of RNA polymerase II transcription subunit 12
Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators.
Ito M.; Yuan C.-X.; Malik S.; Gu W.; Fondell J.D.; Yamamura S.; Fu Z.-Y.; Zhang X.; Qin J.; Roeder R.G.;
Mol. Cell 3:361-370(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); PROTEIN SEQUENCE OF 788-802 (ISOFORMS 1/2/3); IDENTIFICATION IN THE TRAP COMPLEX; TISSUE SPECIFICITY; VARIANT ARG-1392;
Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1.
Nagase T.; Seki N.; Ishikawa K.; Tanaka A.; Nomura N.;
DNA Res. 3:17-24(1996)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 54-2177 (ISOFORM 1); VARIANT ARG-1392;
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.