Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y2I8: Variant p.Ser129Cys

WD repeat-containing protein 37
Gene: WDR37
Feedback?
Variant information Variant position: help 129 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 Serine (S) to Cysteine (C) at position 129 (S129C, p.Ser129Cys). 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 small size and polar (S) to medium size and polar (C) 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 NOCGUS; no effect on interaction with PACS1 and PACS2; does not affect homodimerization. Any additional useful information about the variant.


Sequence information Variant position: help 129 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 494 The length of the canonical sequence.
Location on the sequence: help TKASHSTSQLSQKLKTTYKA S TSKIVSSFKTTTSRAACQLV 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                         TKASHSTSQLSQKLKTTYKASTSKIVSSFKTTTSRAACQLV

Mouse                         TKASHSTSQLSQKLKTTYKASTSKIVSSFKTTTSRAICQLV

Xenopus laevis                TKASHSTSQLSQKLKTTYKASTSKIVSSFKTTTSRAICQLV

Xenopus tropicalis            TKASHSTSQLSQKLKTTYKASTSKIVSSFKTTTSRAICQLV
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 – 494 WD repeat-containing protein 37



Literature citations
De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia.
Kanca O.; Andrews J.C.; Lee P.T.; Patel C.; Braddock S.R.; Slavotinek A.M.; Cohen J.S.; Gubbels C.S.; Aldinger K.A.; Williams J.; Indaram M.; Fatemi A.; Yu T.W.; Agrawal P.B.; Vezina G.; Simons C.; Crawford J.; Lau C.C.; Chung W.K.; Markello T.C.; Dobyns W.B.; Adams D.R.; Gahl W.A.; Wangler M.F.; Yamamoto S.; Bellen H.J.; Malicdan M.C.V.;
Am. J. Hum. Genet. 105:413-424(2019)
Cited for: INVOLVEMENT IN NOCGUS; VARIANTS NOCGUS PHE-119; ILE-125; CYS-129 AND ILE-130; De novo missense variants in WDR37 cause a severe multisystemic syndrome.
Reis L.M.; Sorokina E.A.; Thompson S.; Muheisen S.; Velinov M.; Zamora C.; Aylsworth A.S.; Semina E.V.;
Am. J. Hum. Genet. 105:425-433(2019)
Cited for: SUBCELLULAR LOCATION; INVOLVEMENT IN NOCGUS; VARIANTS NOCGUS PHE-119; ILE-125; CYS-129 AND ILE-130; WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins.
Sorokina E.A.; Reis L.M.; Thompson S.; Agre K.; Babovic-Vuksanovic D.; Ellingson M.S.; Hasadsri L.; van Bever Y.; Semina E.V.;
Hum. Genet. 140:1775-1789(2021)
Cited for: VARIANTS NOCGUS GLY-220; HIS-257 AND ASN-260; SUBCELLULAR LOCATION; SUBUNIT; INTERACTION WITH PACS1 AND PACS2; CHARACTERIZATION OF VARIANTS NOCGUS PHE-119; ILE-125; CYS-129; ILE-130; GLY-220; HIS-257 AND ASN-260;
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.