Sequence information
Variant position: 1202 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2426 The length of the canonical sequence.
Location on the sequence:
LPTEQSALTAENTWPTEVPS
S PSEESVSQPEPPVSQSEISE
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 LPTEQSALTAENTWPTEVPSS PSEESVSQPEPPVSQSEISE
Mouse LSTEQSALTADNTWSTEVTLS -TGESLSQPEPPVSQSEISE
Drosophila --------------------- --------------------
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
2 – 2426
Protein SON
Alternative sequence
690 – 2416
Missing. In isoform H.
Literature citations
From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map.
Reymond A.; Friedli M.; Neergaard Henrichsen C.; Chapot F.; Deutsch S.; Ucla C.; Rossier C.; Lyle R.; Guipponi M.; Antonarakis S.E.;
Genomics 78:46-54(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A; B; C; D; E AND F); VARIANTS SER-473; SER-473 AND LEU-1202;
Transcription repression of human hepatitis B virus genes by negative regulatory element-binding protein/SON.
Sun C.-T.; Lo W.-Y.; Wang I.-H.; Lo Y.-H.; Shiou S.-R.; Lai C.-K.; Ting L.-P.;
J. Biol. Chem. 276:24059-24067(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM G); VARIANTS SER-473 AND LEU-1202; CYS-1575;
Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Kikuno R.; Nagase T.; Ishikawa K.; Hirosawa M.; Miyajima N.; Tanaka A.; Kotani H.; Nomura N.; Ohara O.;
DNA Res. 6:197-205(1999)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B); VARIANTS SER-473 AND LEU-1202; CYS-1575;
Coding part of the son gene small transcript contains four areas of complete tandem repeats.
Bliskovskii V.V.; Berdichevskii F.B.; Tkachenko A.V.; Belova M.E.; Chumakov I.M.;
Mol. Biol. (Mosk.) 26:793-806(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1009-2426 (ISOFORMS A/D); VARIANTS SER-473 AND LEU-1202;
A cDNA clone for a novel nuclear protein with DNA binding activity.
Mattioni T.; Hume C.R.; Konigorski S.; Hayes P.; Osterweil Z.; Lee J.S.;
Chromosoma 101:618-624(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1145-2426 (ISOFORM F); SUBCELLULAR LOCATION; VARIANTS SER-473 AND LEU-1202;
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.