Variant position: 2122 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2564 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 PTSKKKVRIKDRNKLSTEER RKLFEQEVAQREAQKQQQQMQ
Mouse PTSKKKVRIKDRNKLSTEER RKLFEQEVAQREAQKQQQQMQ
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 – 2564 Histone-lysine N-methyltransferase SETD2
2117 – 2146
1573 – 2564 Missing. In isoform 3.
1715 – 2564 Missing. In isoform 2.
Identification of functional cooperative mutations of SETD2 in human acute leukemia.
Zhu X.; He F.; Zeng H.; Ling S.; Chen A.; Wang Y.; Yan X.; Wei W.; Pang Y.; Cheng H.; Hua C.; Zhang Y.; Yang X.; Lu X.; Cao L.; Hao L.; Dong L.; Zou W.; Wu J.; Li X.; Zheng S.; Yan J.; Zhou J.; Zhang L.; Mi S.; Wang X.; Zhang L.; Zou Y.; Chen Y.; Geng Z.; Wang J.; Zhou J.; Liu X.; Wang J.; Yuan W.; Huang G.; Cheng T.; Wang Q.F.;
Nat. Genet. 46:287-293(2014)
Cited for: INVOLVEMENT IN AML; INVOLVEMENT IN ALL; VARIANTS AML 70-ARG--GLU-2564 DEL; ASN-800; GLY-1397; SER-1804; TRP-2122; 2325-GLN--GLU-2564 DEL AND LEU-2505; VARIANTS ALL SER-226; ILE-761; ASN-1493; 1496-ARG--GLU-2564 DEL; GLN-1654; 2077-ARG--GLU-2564 DEL; ALA-2214 AND 2524-CYS--GLU-2564 DEL;
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.