ClinVar

NM_006922.4(SCN3A):c.4862G>A (p.Arg1621Gln)

Gene:

SCN3A:sodium voltage-gated channel alpha subunit 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

• Chr2: 165091291 (on Assembly GRCh38)
• Chr2: 165947801 (on Assembly GRCh37)

Preferred name:

NM_006922.4(SCN3A):c.4862G>A (p.Arg1621Gln)

HGVS:

• NC_000002.12:g.165091291C>T
• NG_042289.1:g.117798G>A
• NM_001081676.2:c.4715G>A
• NM_001081677.2:c.4715G>A
• NM_006922.4:c.4862G>AMANE SELECT
• NP_001075145.1:p.Arg1572Gln
• NP_001075146.1:p.Arg1572Gln
• NP_008853.3:p.Arg1621Gln
• NC_000002.11:g.165947801C>T
• NM_006922.3:c.4862G>A

This HGVS expression did not pass validation

Protein change:

R1572Q

Links:

dbSNP: rs1199412903

NCBI 1000 Genomes Browser:

rs1199412903

Molecular consequence:

• NM_001081676.2:c.4715G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001081677.2:c.4715G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006922.4:c.4862G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

• Moderate hyperpolarizing shift of voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0030]
• Moderate slowing of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0050]
• Normal peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0096]
• Normal slope of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0036]
• Normal slope of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0074]
• Normal voltage dependence of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0070]
• Overall gain-of-function [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0137]
• Severe increase in persistent current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0043]