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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13939: Variant p.Arg432Trp

Calicin
Gene: CCIN
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Variant information Variant position: help 432 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 Arginine (R) to Tryptophan (W) at position 432 (R432W, p.Arg432Trp). 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 (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In SPGF91; pathogenic; in spermatozoa, undetectable in the postacrosomal region, suggesting that it could be degraded or shed during spermiogenesis; when tested in knockin mice, which also carry variant 447-C--I-588 del, a setting similar to that of the original patient with this phenotype, animals develop normally, however, males are infertile and their spermatozoa show a substantial decrease in motility; spermatozoa from homozygous male mice exhibit several abnormalities, including abnormal head shaping, with an increase in their length and width, apical defect of the acrosome and nuclear lacunae devoid of chromatin; at the flagellum, mutant spermatozoa display mitochondrial sheath misassembly and coiling tail around the nucleus. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 432 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 588 The length of the canonical sequence.
Location on the sequence: help PMDGTAVITKGDRHLYIVTG R CLVKGYISRVGVVDCFDTST 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                         PMDGTAVITKGDRHLYIVTGRCLVKGYISRVGVVDCFDTST

Mouse                         PMDGTAVITKGDRNLYIVTGRCLVKGYISRVGVVDCFDTCT

Rat                           PMDGTAVITKGDRNLYIVTGRCLVKGYISRVGVVDCFDTCT

Bovine                        PMDGTAVITRGDRNLYIVTGRCLVKGYISRVGVVDCFDTNT
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 – 588 Calicin
Repeat 425 – 475 Kelch 4



Literature citations
Mutations in CCIN cause teratozoospermia and male infertility.
Fan Y.; Huang C.; Chen J.; Chen Y.; Wang Y.; Yan Z.; Yu W.; Wu H.; Yang Y.; Nie L.; Huang S.; Wang F.; Wang H.; Hua Y.; Lyu Q.; Kuang Y.; Lei M.;
Sci. Bull. 67:2112-2123(2022)
Cited for: INVOLVEMENT IN SPGF91; VARIANTS SPGF91 LEU-42; TRP-432 AND 447-CYS--ILE-588 DEL; CHARACTERIZATION OF VARIANTS SPGF91 LEU-42; TRP-432 AND 447-CYS--ILE-588 DEL; FUNCTION; TISSUE SPECIFICITY; SUBCELLULAR LOCATION;
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.