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UniProtKB/Swiss-Prot Q9P2D1: Variant p.His2096Arg

Chromodomain-helicase-DNA-binding protein 7
Gene: CHD7
Variant information

Variant position:  2096
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 Arginine (R) at position 2096 (H2096R, p.His2096Arg).
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 basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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 CHARGES; no effect on interaction with CHD8.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  2096
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2997
The length of the canonical sequence.

Location on the sequence:   ERLKLCQPSLDLPEWWECGR  H DRDLLVGAAKHGVSRTDYHI
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                         ERLKLCQPSLDLPEWWECGRHDRDLLVGAAKHGVSRTDYHI

Mouse                         DRLKLCQPSLDLPEWWECGRHDRDLLVGAAKHGVSRTDYHI

Chicken                       ERLKLCQPSLDLPEWWECGKHDKDLLIGAAKHGVSRTDYHI

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 – 2997 Chromodomain-helicase-DNA-binding protein 7
Alternative sequence 572 – 2620 Missing. In isoform 4.
Alternative sequence 834 – 2620 Missing. In isoform 3.
Alternative sequence 1139 – 2997 Missing. In isoform 2.


Literature citations

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.
Batsukh T.; Pieper L.; Koszucka A.M.; von Velsen N.; Hoyer-Fender S.; Elbracht M.; Bergman J.E.; Hoefsloot L.H.; Pauli S.;
Hum. Mol. Genet. 19:2858-2866(2010)
Cited for: INTERACTION WITH CHD8; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS CHARGES ARG-2091; ARG-2096 AND ARG-2108; CHARACTERIZATION OF VARIANT ILE-2102;

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
Lalani S.R.; Safiullah A.M.; Fernbach S.D.; Harutyunyan K.G.; Thaller C.; Peterson L.E.; McPherson J.D.; Gibbs R.A.; White L.D.; Hefner M.; Davenport S.L.H.; Graham J.M.; Bacino C.A.; Glass N.L.; Towbin J.A.; Craigen W.J.; Neish S.R.; Lin A.E.; Belmont J.W.;
Am. J. Hum. Genet. 78:303-314(2006)
Cited for: VARIANTS CHARGES GLY-1031; ARG-1214; PRO-1294; PRO-1815; ARG-2096 AND SER-2319;

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.