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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NY72: Variant p.Ala130Val

Sodium channel regulatory subunit beta-3
Gene: SCN3B
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Variant information Variant position: help 130 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 Alanine (A) to Valine (V) at position 130 (A130V, p.Ala130Val). 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 hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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

Variant description: help In ATFB16; results in decreased sodium current density. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 130 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 215 The length of the canonical sequence.
Location on the sequence: help VTLNDSGLYTCNVSREFEFE A HRPFVKTTRLIPLRVTEEAG 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                         VTLNDSGLYTCNVSREFEFEAHRPFVKTTRLIPLRVTEEAG

Mouse                         VTLNDSGLYTCNVSREFEFEAHRPFVKTTRLIPLRVTEEAG

Rat                           VTLNDSGLYTCNVSREFEFEAHRPFVKTTRLIPLRVTEEAG

Bovine                        VTLNDSGLYTCNVSREFEFEAHRPFVKTTRLIPLRVTEEAG

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 23 – 215 Sodium channel regulatory subunit beta-3
Topological domain 23 – 159 Extracellular
Domain 32 – 154 Ig-like C2-type
Glycosylation 113 – 113 N-linked (GlcNAc...) asparagine
Glycosylation 121 – 121 N-linked (GlcNAc...) asparagine



Literature citations
Functional dominant-negative mutation of sodium channel subunit gene SCN3B associated with atrial fibrillation in a Chinese GeneID population.
Wang P.; Yang Q.; Wu X.; Yang Y.; Shi L.; Wang C.; Wu G.; Xia Y.; Yang B.; Zhang R.; Xu C.; Cheng X.; Li S.; Zhao Y.; Fu F.; Liao Y.; Fang F.; Chen Q.; Tu X.; Wang Q.K.;
Biochem. Biophys. Res. Commun. 398:98-104(2010)
Cited for: INVOLVEMENT IN ATFB16; VARIANT ATFB16 VAL-130; CHARACTERIZATION OF VARIANT ATFB16 VAL-130; FUNCTION;
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.