ClinVar

NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln)

Gene:

SCN8A:sodium voltage-gated channel alpha subunit 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 51806336 (on Assembly GRCh38)
• Chr12: 52200120 (on Assembly GRCh37)

Preferred name:

NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln)

HGVS:

• NC_000012.12:g.51806336G>A
• NG_021180.3:g.221379G>A
• NM_001177984.3:c.4727G>A
• NM_001330260.2:c.4850G>AMANE SELECT
• NM_001369788.1:c.4727G>A
• NM_014191.4:c.4850G>A
• NP_001171455.1:p.Arg1576Gln
• NP_001317189.1:p.Arg1617Gln
• NP_001356717.1:p.Arg1576Gln
• NP_055006.1:p.Arg1617Gln
• LRG_1389t1:c.4850G>A
• LRG_1389t2:c.4850G>A
• LRG_1389:g.221379G>A
• LRG_1389p1:p.Arg1617Gln
• LRG_1389p2:p.Arg1617Gln
• NC_000012.11:g.52200120G>A
• NM_014191.2:c.4850G>A
• NM_014191.3:c.4850G>A
• Q9UQD0:p.Arg1617Gln

This HGVS expression did not pass validation

Protein change:

R1576Q; ARG1617GLN

Links:

UniProtKB: Q9UQD0#VAR_071679; OMIM: 600702.0004; dbSNP: rs587777721

NCBI 1000 Genomes Browser:

rs587777721

Molecular consequence:

• NM_001177984.3:c.4727G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330260.2:c.4850G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369788.1:c.4727G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014191.4:c.4850G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

• Acceleration of recovery from fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0053]
• Increase in resurgent current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0099]
• Increase in slope of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0073]
• Normal peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0096]
• Normal slope of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0036]
• Normal voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0032]
• Normal voltage dependence of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0070]
• Overall gain-of-function effect with respect to biophysical channel activity [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0140]
• Severe increase in persistent current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0043]