ClinVar

NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys)

Gene:

SCN2A:sodium voltage-gated channel alpha subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

• Chr2: 165367327 (on Assembly GRCh38)
• Chr2: 166223837 (on Assembly GRCh37)

Preferred name:

NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys)

Other names:

p.E1211K:GAA>AAA

HGVS:

• NC_000002.12:g.165367327G>A
• NG_008143.1:g.132926G>A
• NM_001040142.2:c.3631G>AMANE SELECT
• NM_001040143.2:c.3631G>A
• NM_001371246.1:c.3631G>A
• NM_001371247.1:c.3631G>A
• NM_021007.3:c.3631G>A
• NP_001035232.1:p.Glu1211Lys
• NP_001035233.1:p.Glu1211Lys
• NP_001358175.1:p.Glu1211Lys
• NP_001358176.1:p.Glu1211Lys
• NP_066287.2:p.Glu1211Lys
• NP_066287.2:p.Glu1211Lys
• NC_000002.11:g.166223837G>A
• NM_001040142.1:c.3631G>A
• NM_001040143.2:c.3631G>A
• NM_021007.2:c.3631G>A
• Q99250:p.Glu1211Lys

This HGVS expression did not pass validation

Protein change:

E1211K; GLU1211LYS

Links:

UniProtKB: Q99250#VAR_065180; OMIM: 182390.0009; dbSNP: rs387906684

NCBI 1000 Genomes Browser:

rs387906684

Molecular consequence:

• NM_001040142.2:c.3631G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001040143.2:c.3631G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371246.1:c.3631G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371247.1:c.3631G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_021007.3:c.3631G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

• Mild-moderate slowing of recovery from fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0056]
• Overall mixed or unclear functional effect not able to be clearly categorized as Gain- or Loss-of-Function [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0145]
• Severe hyperpolarizing shift of voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0031]
• Severe hyperpolarizing shift of voltage dependence of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0069]

Observations:

3