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UniProtKB/Swiss-Prot Q03164: Variant p.Ala30Gly

Histone-lysine N-methyltransferase 2A
Gene: KMT2A
Variant information

Variant position:  30
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Alanine (A) to Glycine (G) at position 30 (A30G, p.Ala30Gly).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from small size and hydrophobic (A) to glycine (G)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Other resources:  
Links to websites of interest for the variant.

Sequence information

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.

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.



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.

Chain 1 – 3969 Histone-lysine N-methyltransferase 2A
Chain 1 – 2718 MLL cleavage product N320
Compositional bias 17 – 102 Ala/Gly/Ser-rich
Mutagenesis 10 – 10 P -> A. Reduced interaction with MEN1.
Mutagenesis 11 – 11 A -> R. Reduced interaction with MEN1.
Mutagenesis 12 – 12 R -> A. Reduced interaction with MEN1.
Mutagenesis 13 – 13 P -> A. Reduced interaction with MEN1.
Mutagenesis 24 – 24 R -> E. Reduced interaction with MEN1; when associated with E-25.
Mutagenesis 25 – 25 R -> E. Reduced interaction with MEN1; when associated with E-24.

Literature citations

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)

Disclaimer: 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.