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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q4FZB7: Variant p.Ala513Val

Histone-lysine N-methyltransferase KMT5B
Gene: KMT5B
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Variant information Variant position: help 513 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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: help From Alanine (A) to Valine (V) at position 513 (A513V, p.Ala513Val). 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: help Change from small size and hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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

Variant description: help In MRD51; uncertain significance. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 513 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 885 The length of the canonical sequence.
Location on the sequence: help DKEPEGPAQAAVASGCLTRH A AREHRQNPVRGAHSQGESSP 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         DKEPEGPAQAAVASGCLTRHAAREHRQNPVRGAHSQGESSP

Mouse                         EREPEGPAHAAVGSGCLTRHAAREHRQNHGRGAHSQGDSLP

Rat                           EREAEGPVHAAVGSGCLTRHAAREHRQNPGRGAHSQGDSLP

Bovine                        -----------------------------------------

Zebrafish                     SSRRDTDRRRSASKGSVARSS--ENNRSSSKGASPCKDSTL

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 885 Histone-lysine N-methyltransferase KMT5B
Alternative sequence 275 – 885 Missing. In isoform 3.
Alternative sequence 394 – 885 Missing. In isoform 2.



Literature citations
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Stessman H.A.; Xiong B.; Coe B.P.; Wang T.; Hoekzema K.; Fenckova M.; Kvarnung M.; Gerdts J.; Trinh S.; Cosemans N.; Vives L.; Lin J.; Turner T.N.; Santen G.; Ruivenkamp C.; Kriek M.; van Haeringen A.; Aten E.; Friend K.; Liebelt J.; Barnett C.; Haan E.; Shaw M.; Gecz J.; Anderlid B.M.; Nordgren A.; Lindstrand A.; Schwartz C.; Kooy R.F.; Vandeweyer G.; Helsmoortel C.; Romano C.; Alberti A.; Vinci M.; Avola E.; Giusto S.; Courchesne E.; Pramparo T.; Pierce K.; Nalabolu S.; Amaral D.G.; Scheffer I.E.; Delatycki M.B.; Lockhart P.J.; Hormozdiari F.; Harich B.; Castells-Nobau A.; Xia K.; Peeters H.; Nordenskjoeld M.; Schenck A.; Bernier R.A.; Eichler E.E.;
Nat. Genet. 49:515-526(2017)
Cited for: INVOLVEMENT IN MRD51; VARIANTS MRD51 SER-264; VAL-513 AND GLN-540;
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.