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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O14646: Variant p.Arg618Gln

Chromodomain-helicase-DNA-binding protein 1
Gene: CHD1
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Variant information Variant position: help 618 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 Glutamine (Q) at position 618 (R618Q, p.Arg618Gln). 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 (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In PILBOS; patient cells show a global increase of methylated histone binding. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 618 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1710 The length of the canonical sequence.
Location on the sequence: help KDKAFLGGLNWAFIGVDEAH R LKNDDSLLYKTLIDFKSNHR 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         KDKAFLGGLNWAFIGVDEAHRLKNDDSLLYKTLIDFKSNHR

Mouse                         KDKAFLGGLNWAFIGVDEAHRLKNDDSLLYKTLIDFKSNHR

Chicken                       KDKSFLGGLNWAFIGVDEAHRLKNDDSLLYKTLIDFKSNHR

Drosophila                    KDKQFLGTLQWAALLVDEAHRLKNDDSLLYKSLKEFDTNHR

Baker's yeast                 KDRAELGSIKWQFMAVDEAHRLKNAESSLYESLNSFKVANR
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 – 1710 Chromodomain-helicase-DNA-binding protein 1
Domain 493 – 663 Helicase ATP-binding



Literature citations
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
Pilarowski G.O.; Vernon H.J.; Applegate C.D.; Boukas L.; Cho M.T.; Gurnett C.A.; Benke P.J.; Beaver E.; Heeley J.M.; Medne L.; Krantz I.D.; Azage M.; Niyazov D.; Henderson L.B.; Wentzensen I.M.; Baskin B.; Sacoto M.J.G.; Bowman G.D.; Bjornsson H.T.;
J. Med. Genet. 55:561-566(2018)
Cited for: FUNCTION; TISSUE SPECIFICITY; INVOLVEMENT IN PILBOS; VARIANTS PILBOS GLY-141; LYS-460; GLN-618 AND GLN-1708; CHARACTERIZATION OF VARIANT PILBOS GLN-618;
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.