Variant position: 3773 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 3969 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 ANEPPLNPHGSARAEVHLRK SAFDMFNFLASKHRQPPEYNP
Mouse ANEPPLNPHGSARAEVHLRQ SAFDMFNFLASKHRQPPEYNP
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 – 3969 Histone-lysine N-methyltransferase 2A
2719 – 3969 MLL cleavage product C180
3765 – 3765 Important for WDR5-recognition and binding
3763 – 3763 S -> A. Increased interaction with WDR5.
3765 – 3765 R -> A. Loss of interaction with the WRAD complex and WDR5.
3769 – 3769 H -> AF. Slight decrease in interaction with WDR5.
3769 – 3769 H -> Y. Increased interaction with WDR5.
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-53; LYS-502; THR-2319; ARG-2354; ARG-2387; ILE-3714 AND ALA-3773;
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.