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UniProtKB/Swiss-Prot Q9UK17: Variant p.Gly384Ser

Potassium voltage-gated channel subfamily D member 3
Gene: KCND3
Variant information

Variant position:  384
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 Glycine (G) to Serine (S) at position 384 (G384S, p.Gly384Ser).
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 glycine (G) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  Spinocerebellar ataxia 19 (SCA19) [MIM:607346]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA19 is a relatively mild, cerebellar ataxic syndrome with cognitive impairment, pyramidal tract involvement, tremor and peripheral neuropathy, and mild atrophy of the cerebellar hemispheres and vermis. {ECO:0000269|PubMed:23280837, ECO:0000269|PubMed:23280838, ECO:0000269|PubMed:28895081}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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:  In SCA19.
Any additional useful information about the variant.



Sequence information

Variant position:  384
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  655
The length of the canonical sequence.

Location on the sequence:   TMTTLGYGDMVPKTIAGKIF  G SICSLSGVLVIALPVPVIVS
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                         TMTTLGYGDMVPKTIAGKIFGSICSLSGVLVIALPVPVIVS

Mouse                         TMTTLGYGDMVPKTIAGKIFGSICSLSGVLVIALPVPVIVS

Rat                           TMTTLGYGDMVPKTIAGKIFGSICSLSGVLVIALPVPVIVS

Rabbit                        TMTTLGYGDMVPKTIAGKIFGSICSLSGVLVIALPVPVIVS

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 – 655 Potassium voltage-gated channel subfamily D member 3
Transmembrane 382 – 402 Helical; Name=Segment S6


Literature citations

Novel de novo KCND3 mutation in a Japanese patient with intellectual disability, cerebellar ataxia, myoclonus, and dystonia.
Kurihara M.; Ishiura H.; Sasaki T.; Otsuka J.; Hayashi T.; Terao Y.; Matsukawa T.; Mitsui J.; Kaneko J.; Nishiyama K.; Doi K.; Yoshimura J.; Morishita S.; Shimizu J.; Tsuji S.;
Cerebellum 17:237-242(2018)
Cited for: VARIANT SCA19 SER-384;

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.