Home  |  Contact

UniProtKB/Swiss-Prot Q01105: Variant p.His118Tyr

Protein SET
Gene: SET
Variant information

Variant position:  118
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 Histidine (H) to Tyrosine (Y) at position 118 (H118Y, p.His118Tyr).
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 (H) 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

Involvement in disease:  Mental retardation, autosomal dominant 58 (MRD58) [MIM:618106]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD58 is characterized by delayed development, intellectual disability, language delay and speech impairment. Some patients have motor delay or incoordination, and minor dysmorphic features. {ECO:0000269|PubMed:25356899, ECO:0000269|PubMed:29688601}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In MRD58.
Any additional useful information about the variant.



Sequence information

Variant position:  118
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  290
The length of the canonical sequence.

Location on the sequence:   TFVNHPQVSALLGEEDEEAL  H YLTRVEVTEFEDIKSGYRID
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                         TFVNHPQVSALLGEEDEEALHYLTRVEVTEF--EDIKSGYRID

Mouse                         TFVNHPQVSALLGEEDEEALHYLTRVEVTEF--EDIKSGYR

Rat                           TFVNHPQVSALLGEEDEEALHYLTRVEVTEF--EDIKSGYR

Drosophila                    SFINHPQVSGILDEEEEECLHALNKLEVEEF--EDIKSGYR

Slime mold                    IFTNLFLKLGFVDEL---------TMCVDDFFVEDTETEFR

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 – 290 Protein SET
Region 79 – 225 Earmuff domain
Helix 117 – 119


Literature citations

De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability.
Stevens S.J.C.; van der Schoot V.; Leduc M.S.; Rinne T.; Lalani S.R.; Weiss M.M.; van Hagen J.M.; Lachmeijer A.M.A.; Stockler-Ipsiroglu S.G.; Lehman A.; Brunner H.G.;
Hum. Mutat. 39:1014-1023(2018)
Cited for: INVOLVEMENT IN MRD58; VARIANTS MRD58 GLY-95 AND TYR-118;

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.