Variant position: 665 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1488 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 PKKTNTTASAKVAPVRVGTQ APRKAGTATSPAG-SSPAVAGG
Mouse SRKGTPASATGAS-----TS SHCKAGAVTSSASLSSPALAK
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.
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome.
Dixon J.; Edwards S.J.; Gladwin A.J.; Dixon M.J.; Loftus S.K.; Bonner C.A.; Koprivnikar K.; Wasmuth J.J.;
Nat. Genet. 12:130-136(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANTS PRO-665 AND ALA-887;
Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene.
Dixon J.; Edwards S.J.; Anderson I.; Brass A.; Scambler P.J.; Dixon M.J.;
Genome Res. 7:223-234(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2); VARIANTS PRO-665 AND ALA-887;
TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region.
Wise C.A.; Chiang L.C.; Paznekas W.A.; Sharma M.; Musy M.M.; Ashley J.A.; Lovett M.; Jabs E.W.;
Proc. Natl. Acad. Sci. U.S.A. 94:3110-3115(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANTS PRO-665 AND ALA-887;
Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons.
So R.B.; Gonzales B.; Henning D.; Dixon J.; Dixon M.J.; Valdez B.C.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); ALTERNATIVE SPLICING (ISOFORM 4); VARIANTS PRO-665 AND ALA-887;
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