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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9P2D1: Variant p.Lys2948Glu

Chromodomain-helicase-DNA-binding protein 7
Gene: CHD7
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Variant information Variant position: help 2948 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 Lysine (K) to Glutamate (E) at position 2948 (K2948E, p.Lys2948Glu). 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 (K) to medium size and acidic (E) 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 HH5; phenotype consistent with Kallmann syndrome. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 2948 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2997 The length of the canonical sequence.
Location on the sequence: help QNAVGSSEEKAADKAEGGPF K DGETLEGSDAEESLDKTAES 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                         QNAVGSSEEKAADKAEGGPFKDGETLEGSDAEESLDKTAES

Mouse                         QNAVGTSEEKAADKAEGGPCKDGETLEGSDAEENLDKTVES

Chicken                       QNAVGSNEEKATDKTEGTAFKDEENLEGSDAEESLDKTADS
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 – 2997 Chromodomain-helicase-DNA-binding protein 7
Region 2935 – 2997 Disordered
Compositional bias 2936 – 2970 Basic and acidic residues
Modified residue 2956 – 2956 Phosphoserine
Modified residue 2961 – 2961 Phosphoserine
Alternative sequence 1139 – 2997 Missing. In isoform 2.



Literature citations
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Kim H.-G.; Kurth I.; Lan F.; Meliciani I.; Wenzel W.; Eom S.H.; Kang G.B.; Rosenberger G.; Tekin M.; Ozata M.; Bick D.P.; Sherins R.J.; Walker S.L.; Shi Y.; Gusella J.F.; Layman L.C.;
Am. J. Hum. Genet. 83:511-519(2008)
Cited for: VARIANTS HH5 ARG-55; PHE-834; LEU-2880 AND GLU-2948; VARIANT THR-2789;
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.