Home  |  Contact

UniProtKB/Swiss-Prot Q8IZD2: Variant p.Pro1376Ser

Inactive histone-lysine N-methyltransferase 2E
Gene: KMT2E
Variant information

Variant position:  1376
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Proline (P) to Serine (S) at position 1376 (P1376S, p.Pro1376Ser).
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 medium size and hydrophobic (P) to small size and polar (S)
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

Variant description:  In ODLURO.
Any additional useful information about the variant.



Sequence information

Variant position:  1376
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1858
The length of the canonical sequence.

Location on the sequence:   KPGSPGSVIPAQAHGKIFTK  P DPQWDSTVSASEAENGVHLK
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                         KPGSPGSVIPAQAHGKIFTKPDPQWDSTVSASEAENGVHLK

Mouse                         KPGSPGPINPAQSHGKILTKPDSHWEATATVSEADNSVHQN

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 – 1858 Inactive histone-lysine N-methyltransferase 2E
Region 1164 – 1561 Disordered
Modified residue 1359 – 1359 Phosphoserine
Alternative sequence 610 – 1858 Missing. In isoform 3.
Alternative sequence 866 – 1858 Missing. In isoform 4.
Alternative sequence 1169 – 1858 Missing. In isoform NKp44L.


Literature citations

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy.
O'Donnell-Luria A.H.; Pais L.S.; Faundes V.; Wood J.C.; Sveden A.; Luria V.; Abou Jamra R.; Accogli A.; Amburgey K.; Anderlid B.M.; Azzarello-Burri S.; Basinger A.A.; Bianchini C.; Bird L.M.; Buchert R.; Carre W.; Ceulemans S.; Charles P.; Cox H.; Culliton L.; Curro A.; Demurger F.; Dowling J.J.; Duban-Bedu B.; Dubourg C.; Eiset S.E.; Escobar L.F.; Ferrarini A.; Haack T.B.; Hashim M.; Heide S.; Helbig K.L.; Helbig I.; Heredia R.; Heron D.; Isidor B.; Jonasson A.R.; Joset P.; Keren B.; Kok F.; Kroes H.Y.; Lavillaureix A.; Lu X.; Maas S.M.; Maegawa G.H.B.; Marcelis C.L.M.; Mark P.R.; Masruha M.R.; McLaughlin H.M.; McWalter K.; Melchinger E.U.; Mercimek-Andrews S.; Nava C.; Pendziwiat M.; Person R.; Ramelli G.P.; Ramos L.L.P.; Rauch A.; Reavey C.; Renieri A.; Riess A.; Sanchez-Valle A.; Sattar S.; Saunders C.; Schwarz N.; Smol T.; Srour M.; Steindl K.; Syrbe S.; Taylor J.C.; Telegrafi A.; Thiffault I.; Trauner D.A.; van der Linden H. Jr.; van Koningsbruggen S.; Villard L.; Vogel I.; Vogt J.; Weber Y.G.; Wentzensen I.M.; Widjaja E.; Zak J.; Baxter S.; Banka S.; Rodan L.H.;
Am. J. Hum. Genet. 104:1210-1222(2019)
Cited for: INVOLVEMENT IN ODLURO; VARIANTS ODLURO ILE-140; 151-ARG--HIS-1858 DEL; HIS-284; 754-SER--HIS-1858 DEL; 818-ARG--HIS-1858 DEL; 874-ARG--HIS-1858 DEL; VAL-907; 1024-GLN--HIS-1858 DEL; 1185-SER--HIS-1858 DEL; 1224-TYR--HIS-1858 DEL AND SER-1376; VARIANT LEU-1376D;

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.