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UniProtKB/Swiss-Prot Q9NY72: Variant p.Leu10Pro

Sodium channel subunit beta-3
Gene: SCN3B
Variant information

Variant position:  10
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 Leucine (L) to Proline (P) at position 10 (L10P, p.Leu10Pro).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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:  Brugada syndrome 7 (BRGDA7) [MIM:613120]: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO:0000269|PubMed:20031595}. Note=The gene represented in this entry may be involved in disease pathogenesis.
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.

Involvement in disease:  Atrial fibrillation, familial, 16 (ATFB16) [MIM:613120]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269|PubMed:20558140, ECO:0000269|PubMed:21051419}. 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 BRGDA7 AND ATFB16; unknown pathological significance; results in a decrease in peak sodium current density.
Any additional useful information about the variant.

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



Sequence information

Variant position:  10
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  215
The length of the canonical sequence.

Location on the sequence:   MPAFNRLFP  L ASLVLIYWVSVCFPVCVEVP
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                         MPAFNRLFPLASLVLIYWVSVCFPVCVEVP

Mouse                         MPAFNRLLPLASLVLIYWVRVCFPVCVEVP

Rat                           MPAFNRLLPLASLVLIYWVRVCFPVCVEVP

Bovine                        MPAFNRLFPLASLLLILWVGVCFPVCVEVP

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
Signal peptide 1 – 22


Literature citations

A mutation in the beta-3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype.
Hu D.; Barajas-Martinez H.; Burashnikov E.; Springer M.; Wu Y.; Varro A.; Pfeiffer R.; Koopmann T.T.; Cordeiro J.M.; Guerchicoff A.; Pollevick G.D.; Antzelevitch C.;
Circ. Cardiovasc. Genet. 2:270-278(2009)
Cited for: VARIANT BRGDA7 PRO-10;

Mutations in sodium channel beta-subunit SCN3B are associated with early-onset lone atrial fibrillation.
Olesen M.S.; Jespersen T.; Nielsen J.B.; Liang B.; Moller D.V.; Hedley P.; Christiansen M.; Varro A.; Olesen S.P.; Haunso S.; Schmitt N.; Svendsen J.H.;
Cardiovasc. Res. 89:786-793(2011)
Cited for: VARIANTS ATFB16 LYS-6; PRO-10 AND THR-161; TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANTS ATFB16 LYS-6; PRO-10 AND THR-161;

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.