Variant position: 486 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2342 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 TKCLSNMREEKNLLKHDSNY AKMYCNPDAMSSLTEKTIYSG
Mouse TKCLSAMEEEKKLLKADDKY SKICTNPDA-GPLREKTIYLE
Caenorhabditis elegans -----GLGVPQNLINIASNV VPV------------------
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 – 2342 Kinetochore scaffold 1
1 – 728 Interaction with BUB1 and BUB1B
AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14).
Hayette S.; Tigaud I.; Vanier A.; Martel S.; Corbo L.; Charrin C.; Beillard E.; Deleage G.; Magaud J.-P.; Rimokh R.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 4); CHROMOSOMAL TRANSLOCATION WITH KMT2A/MLL1; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANTS SER-486; THR-598; GLY-936; GLU-1285 AND ALA-1473;
Frequent expression of new cancer/testis gene D40/AF15q14 in lung cancer of smokers.
Takimoto M.; Wei G.; Dosaka-Akita H.; Mao P.; Kondo S.; Sakuragi N.; Chiba I.; Miura T.; Itoh N.; Sasao T.; Koya R.C.; Tsukamoto T.; Fujimoto S.; Kato H.; Kuzumaki N.;
Br. J. Cancer 86:1757-1762(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3); TISSUE SPECIFICITY; VARIANTS THR-43; ALA-113; SER-486; THR-598 AND GLY-936;
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.