Variant position: 345 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 727 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 PDCDMAFVTSGELVRHRRYK HTHEKPFKCSMCDYASVEVSK
Mouse PDCDMAFVTSGELVRHRRYK HTHEKPFKCSMCDYASVEVSK
Rat PDCDMAFVTSGELVRHRRYK HTHEKPFKCSMCDYASVEVSK
Chicken PDCDMAFVTSGELVRHRRYK HTHEKPFKCSMCDYASVEVSK
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 – 727 Transcriptional repressor CTCF
322 – 345 C2H2-type 3
Tumor-associated zinc finger mutations in the CTCF transcription factor selectively alter its DNA-binding specificity.
Filippova G.N.; Qi C.-F.; Ulmer J.E.; Moore J.M.; Ward M.D.; Hu Y.J.; Loukinov D.I.; Pugacheva E.M.; Klenova E.M.; Grundy P.E.; Feinberg A.P.; Cleton-Jansen A.-M.; Moerland E.W.; Cornelisse C.J.; Suzuki H.; Komiya A.; Lindblom A.; Dorion-Bonnet F.; Neiman P.E.; Morse H.C. III; Collins S.J.; Lobanenkov V.V.;
Cancer Res. 62:48-52(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS WILMS TUMOR TRP-339 AND GLN-448; VARIANT BREAST TUMOR GLU-344; VARIANT PROSTATE TUMOR ARG-345;
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.