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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UPS6: Variant p.Arg1902Cys

Histone-lysine N-methyltransferase SETD1B
Gene: SETD1B
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Variant information Variant position: help 1902 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Cysteine (C) at position 1902 (R1902C, p.Arg1902Cys). 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 large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 IDDSELD. Any additional useful information about the variant.


Sequence information Variant position: help 1902 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1966 The length of the canonical sequence.
Location on the sequence: help YMFRVDHDTIIDATKCGNFA R FINHSCNPNCYAKVITVESQ 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.
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 – 1966 Histone-lysine N-methyltransferase SETD1B
Domain 1827 – 1944 SET
Mutagenesis 1905 – 1905 N -> A. Abolishes interaction with S-adenosyl-L-methionine.



Literature citations
De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.
Hiraide T.; Nakashima M.; Yamoto K.; Fukuda T.; Kato M.; Ikeda H.; Sugie Y.; Aoto K.; Kaname T.; Nakabayashi K.; Ogata T.; Matsumoto N.; Saitsu H.;
Hum. Genet. 137:95-104(2018)
Cited for: VARIANTS IDDSELD TRP-1885 AND CYS-1902; INVOLVEMENT IN IDDSELD; A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska I.M.; Maas S.M.; Henneman P.; Lip K.V.D.; Venema A.; Baranano K.; Chassevent A.; Aref-Eshghi E.; van Essen A.J.; Fukuda T.; Ikeda H.; Jacquemont M.; Kim H.G.; Labalme A.; Lewis S.M.E.; Lesca G.; Madrigal I.; Mahida S.; Matsumoto N.; Rabionet R.; Rajcan-Separovic E.; Qiao Y.; Sadikovic B.; Saitsu H.; Sweetser D.A.; Alders M.; Mannens M.M.A.M.;
Clin. Epigenetics 11:156-156(2019)
Cited for: VARIANTS IDDSELD TRP-1885 AND CYS-1902;
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.