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UniProtKB/Swiss-Prot Q9H9B1: Variant p.Cys1075Tyr

Histone-lysine N-methyltransferase EHMT1
Gene: EHMT1
Variant information

Variant position:  1075
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 Cysteine (C) to Tyrosine (Y) at position 1075 (C1075Y, p.Cys1075Tyr).
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 polar (C) to large size and aromatic (Y)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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 KLEFS1.
Any additional useful information about the variant.



Sequence information

Variant position:  1075
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1298
The length of the canonical sequence.

Location on the sequence:   NITHLQYCVCIDDCSSSNCM  C GQLSMRCWYDKDGRLLPEFN
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                         NITHLQYCVCIDDCSSSNCMCGQLSMRCWYDKDGRLLPEFN

Mouse                         NITHLQYCVCVDDCSSSTCMCGQLSMRCWYDKDGRLLPEFN

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 2 – 1298 Histone-lysine N-methyltransferase EHMT1
Domain 1060 – 1123 Pre-SET
Metal binding 1062 – 1062 Zinc 1
Metal binding 1062 – 1062 Zinc 2
Metal binding 1064 – 1064 Zinc 1
Metal binding 1068 – 1068 Zinc 1
Metal binding 1068 – 1068 Zinc 3
Metal binding 1073 – 1073 Zinc 1
Metal binding 1075 – 1075 Zinc 2
Alternative sequence 67 – 1298 Missing. In isoform 2.
Alternative sequence 809 – 1298 Missing. In isoform 4.
Helix 1074 – 1078


Literature citations

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.
Kleefstra T.; van Zelst-Stams W.A.; Nillesen W.M.; Cormier-Daire V.; Houge G.; Foulds N.; van Dooren M.; Willemsen M.H.; Pfundt R.; Turner A.; Wilson M.; McGaughran J.; Rauch A.; Zenker M.; Adam M.P.; Innes M.; Davies C.; Lopez A.G.; Casalone R.; Weber A.; Brueton L.A.; Navarro A.D.; Bralo M.P.; Venselaar H.; Stegmann S.P.; Yntema H.G.; van Bokhoven H.; Brunner H.G.;
J. Med. Genet. 46:598-606(2009)
Cited for: VARIANT KLEFS1 TYR-1075;

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.