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UniProtKB/Swiss-Prot O14686: Variant p.Ser4010Pro

Histone-lysine N-methyltransferase 2D
Gene: KMT2D
Chromosomal location: 12q12-q13
Variant information

Variant position:  4010
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Proline (P) at position 4010 (S4010P, p.Ser4010Pro).
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 polar (S) to medium size and hydrophobic (P)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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:  4010
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  5537
The length of the canonical sequence.

Location on the sequence:   QQQQQVALGPGMPAKPLQHF  S SPGALGPTLLLTGKEQNTVD
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                         QQQQQ-------------------VALGPGMPAKPLQHFSSPGALGPTLLLTGKEQNTVD

Mouse                         QQQQQQQQQQQQQQQQQQQQQQQQVTLGPGLPVKPLQHFSS

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.

TypePositionsDescription
Chain 1 – 5537 Histone-lysine N-methyltransferase 2D
Compositional bias 3261 – 4275 Gln-rich


Literature citations

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P.; van Bon B.W.; Steehouwer M.; Rodriguez-Santiago B.; Simpson M.; Dias P.; Anderlid B.M.; Arts P.; Bhat M.; Augello B.; Biamino E.; Bongers E.M.; Del Campo M.; Cordeiro I.; Cueto-Gonzalez A.M.; Cusco I.; Deshpande C.; Frysira E.; Izatt L.; Flores R.; Galan E.; Gener B.; Gilissen C.; Granneman S.M.; Hoyer J.; Yntema H.G.; Kets C.M.; Koolen D.A.; Marcelis C.L.; Medeira A.; Micale L.; Mohammed S.; de Munnik S.A.; Nordgren A.; Psoni S.; Reardon W.; Revencu N.; Roscioli T.; Ruiterkamp-Versteeg M.; Santos H.G.; Schoumans J.; Schuurs-Hoeijmakers J.H.; Silengo M.C.; Toledo L.; Vendrell T.; van der Burgt I.; van Lier B.; Zweier C.; Reymond A.; Trembath R.C.; Perez-Jurado L.; Dupont J.; de Vries B.B.; Brunner H.G.; Veltman J.A.; Merla G.; Antonarakis S.E.; Hoischen A.;
Clin. Genet. 84:539-545(2013)
Cited for: VARIANTS KABUK1 HIS-170; LEU-170; GLN-647; ARG-1380; ARG-1471; ARG-3876; SER-3897; CYS-5030; CYS-5048; HIS-5048; CYS-5214; TRP-5432 AND PHE-5498; VARIANTS LEU-2557; LEU-2652 AND PRO-4010;

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.