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UniProtKB/Swiss-Prot Q9BYV8: Variant p.Cys240Gly

Centrosomal protein of 41 kDa
Gene: CEP41
Variant information

Variant position:  240
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
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 Cysteine (C) to Glycine (G) at position 240 (C240G, p.Cys240Gly).
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 (C) to glycine (G)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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

Involvement in disease:  Note=Genetic variations in CEP41 may be associated with susceptibility to autism (PubMed:21438139). {ECO:0000269|PubMed:21438139}.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  Found in a patient with autism; unknown pathological significance.
Any additional useful information about the variant.

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



Sequence information

Variant position:  240
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  373
The length of the canonical sequence.

Location on the sequence:   KIIILYDDDERLASQAATTM  C ERGFENLFMLSGGLKVLAQK
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                         KIIILYDDDERLASQAATTMCERGFENLFMLSGGLKVLAQK

Mouse                         KIIILYDEDERLASQAATTMCERGFENLFMLSGGLKVLAQK

Rat                           KIIILYDDDERLASQAATTMCERGFENLFMLSGGLKVLAQK

Bovine                        KIIILYDDDERLASQAATTMCERGFENLFMLSGGLKVLAQK

Chicken                       KIIILYDDDERLASQAATTMCERGFENLFMLSGGLKVLAQK

Xenopus tropicalis            KIIILYDEDERIASQAATTMCERGFENLFMLSGGLKVISQK

Zebrafish                     KIIIVYDEDERIASQAATTMCERGFENLFMLSGGLKVVAQK

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 – 373 Centrosomal protein of 41 kDa
Domain 169 – 266 Rhodanese
Alternative sequence 55 – 373 Missing. In isoform 3.


Literature citations

Mutations in the TSGA14 gene in families with autism spectrum disorders.
Korvatska O.; Estes A.; Munson J.; Dawson G.; Bekris L.M.; Kohen R.; Yu C.E.; Schellenberg G.D.; Raskind W.H.;
Am. J. Med. Genet. B Neuropsychiatr. Genet. 156:303-311(2011)
Cited for: POSSIBLE INVOLVEMENT IN AUTISM; VARIANTS ALA-206 AND GLY-240;

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.