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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q719H9: Variant p.Gly62Asp

BTB/POZ domain-containing protein KCTD1
Gene: KCTD1
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Variant information Variant position: help 62 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 Glycine (G) to Aspartate (D) at position 62 (G62D, p.Gly62Asp). 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 glycine (G) to medium size and acidic (D) 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 SENS; increased protein aggregation; the mutant protein sequesters wild-type KCTD1 or KCTD15 into amyloid-like aggregates. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 62 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 257 The length of the canonical sequence.
Location on the sequence: help TSSLATLTKYPESRIGRLFD G TEPIVLDSLKQHYFIDRDGQ 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                         TSSLATLTKYPESRIGRLFDGTEPIVLDSLKQHYFIDRDGQ

Mouse                         TSSLATLTKYPESRIGRLFDGTEPIVLDSLKQHYFIDRDGQ

Rat                           TSSLATLTKYPESRIGRLFDGTEPIVLDSLKQHYFIDRDGQ

Bovine                        TSSLATLTKYPESRIGRLFDGTEPIVLDSLKQHYFIDRDGQ
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 – 257 BTB/POZ domain-containing protein KCTD1
Domain 30 – 100 BTB
Beta strand 61 – 64



Literature citations
KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis.
Raymundo J.R.; Zhang H.; Smaldone G.; Zhu W.; Daly K.E.; Glennon B.J.; Pecoraro G.; Salvatore M.; Devine W.A.; Lo C.W.; Vitagliano L.; Marneros A.G.;
J. Clin. Invest. 134:0-0(2023)
Cited for: INTERACTION WITH KCTD15; CHARACTERIZATION OF VARIANTS SENS ASP-62 AND PRO-74; SUBCELLULAR LOCATION; Mutations in KCTD1 cause scalp-ear-nipple syndrome.
Marneros A.G.; Beck A.E.; Turner E.H.; McMillin M.J.; Edwards M.J.; Field M.; de Macena Sobreira N.L.; Perez A.B.; Fortes J.A.; Lampe A.K.; Giovannucci Uzielli M.L.; Gordon C.T.; Plessis G.; Le Merrer M.; Amiel J.; Reichenberger E.; Shively K.M.; Cerrato F.; Labow B.I.; Tabor H.K.; Smith J.D.; Shendure J.; Nickerson D.A.; Bamshad M.J.;
Am. J. Hum. Genet. 92:621-626(2013)
Cited for: VARIANTS SENS GLU-30; ARG-31; LEU-31; SER-31; GLN-33; PRO-33; ASP-62 AND PRO-74; INVOLVEMENT IN SENS;
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.