Variant position: 30 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 PARPGTTGGGGGGGRRGLGG APRQRVPALLLPPGPPVGGGG
Mouse PARPGTTGGGGGGGRRGLGG APRQRVPALLLPPGPQAGGGG
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
1 – 2718 MLL cleavage product N320
17 – 102 Ala/Gly/Ser-rich
10 – 10 P -> A. Reduced interaction with MEN1.
11 – 11 A -> R. Reduced interaction with MEN1.
12 – 12 R -> A. Reduced interaction with MEN1.
13 – 13 P -> A. Reduced interaction with MEN1.
24 – 24 R -> E. Reduced interaction with MEN1; when associated with E-25.
25 – 25 R -> E. Reduced interaction with MEN1; when associated with E-24.
Exon/intron structure of the human ALL-1 (MLL) gene involved in translocations to chromosomal region 11q23 and acute leukaemias.
Nilson I.; Loechner K.; Siegler G.; Greil J.; Beck J.D.; Fey G.H.; Marschalek R.;
Br. J. Haematol. 93:966-972(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 3); VARIANT GLY-30;
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