ClinVar

NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His)

Gene:

SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

• Chr2: 166039436 (on Assembly GRCh38)
• Chr2: 166895946 (on Assembly GRCh37)

Preferred name:

NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His)

HGVS:

• NC_000002.12:g.166039436C>T
• NG_011906.1:g.39204G>A
• NM_001165963.4:c.2576G>AMANE SELECT
• NM_001165963.4:c.2576G>A
• NM_001165964.3:c.2492G>A
• NM_001202435.1:c.2576G>A
• NM_001202435.3:c.2576G>A
• NM_001353948.2:c.2576G>A
• NM_001353949.2:c.2543G>A
• NM_001353950.2:c.2543G>A
• NM_001353951.2:c.2543G>A
• NM_001353952.2:c.2543G>A
• NM_001353954.2:c.2540G>A
• NM_001353955.2:c.2540G>A
• NM_001353957.2:c.2492G>A
• NM_001353958.2:c.2492G>A
• NM_001353960.2:c.2489G>A
• NM_001353961.2:c.134G>A
• NM_006920.6:c.2543G>A
• NP_001159435.1:p.Arg859His
• NP_001159436.1:p.Arg831His
• NP_001189364.1:p.Arg859His
• NP_001340877.1:p.Arg859His
• NP_001340878.1:p.Arg848His
• NP_001340879.1:p.Arg848His
• NP_001340880.1:p.Arg848His
• NP_001340881.1:p.Arg848His
• NP_001340883.1:p.Arg847His
• NP_001340884.1:p.Arg847His
• NP_001340886.1:p.Arg831His
• NP_001340887.1:p.Arg831His
• NP_001340889.1:p.Arg830His
• NP_001340890.1:p.Arg45His
• NP_008851.3:p.Arg848His
• LRG_8:g.39204G>A
• NC_000002.11:g.166895946C>T
• NC_000002.11:g.166895946C>T
• NC_000002.12:g.166039436C>T
• NM_001165963.1:c.2576G>A
• NM_001165963.3:c.2576G>A
• NR_148667.2:n.2929G>A
• P35498:p.Arg859His

This HGVS expression did not pass validation

Protein change:

R45H

Links:

UniProtKB: P35498#VAR_073501; dbSNP: rs398123588

NCBI 1000 Genomes Browser:

rs398123588

Molecular consequence:

• NM_001165963.4:c.2576G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001165964.3:c.2492G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001202435.3:c.2576G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353948.2:c.2576G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353949.2:c.2543G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353950.2:c.2543G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353951.2:c.2543G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353952.2:c.2543G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353954.2:c.2540G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353955.2:c.2540G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353957.2:c.2492G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353958.2:c.2492G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353960.2:c.2489G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353961.2:c.134G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006920.6:c.2543G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_148667.2:n.2929G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

• Mild hyperpolarizing shift of voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0029]
• Mild hyperpolarizing shift of voltage dependence of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0067]
• Moderate increase in persistent current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0042]
• 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]
• Overall mixed or unclear functional effect with respect to biophysical channel activity [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0148]
• Slowing of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0012]
• Slowing of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0048]
• Slowing of recovery from fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0055]

Observations:

1