ClinVar

NM_001330260.2(SCN8A):c.4912C>T (p.Arg1638Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 51806398 (on Assembly GRCh38)
• Chr12: 52200182 (on Assembly GRCh37)

Preferred name:

NM_001330260.2(SCN8A):c.4912C>T (p.Arg1638Cys)

HGVS:

• NC_000012.12:g.51806398C>T
• NG_021180.3:g.221441C>T
• NM_001177984.3:c.4789C>T
• NM_001330260.2:c.4912C>TMANE SELECT
• NM_001369788.1:c.4789C>T
• NM_014191.4:c.4912C>T
• NP_001171455.1:p.Arg1597Cys
• NP_001317189.1:p.Arg1638Cys
• NP_001356717.1:p.Arg1597Cys
• NP_055006.1:p.Arg1638Cys
• LRG_1389t1:c.4912C>T
• LRG_1389t2:c.4912C>T
• LRG_1389:g.221441C>T
• LRG_1389p1:p.Arg1638Cys
• LRG_1389p2:p.Arg1638Cys
• NC_000012.11:g.52200182C>T
• NG_021180.2:g.220163C>T
• NM_014191.3:c.4912C>T

This HGVS expression did not pass validation

Protein change:

R1597C

Links:

dbSNP: rs1938703307

NCBI 1000 Genomes Browser:

rs1938703307

Molecular consequence:

• NM_001177984.3:c.4789C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330260.2:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369788.1:c.4789C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014191.4:c.4912C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

• Increase in slope of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0035]
• Increase in slope of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0073]
• Mild-moderate depolarizing shift of voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0023]
• Normal peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0096]
• Normal voltage dependence of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0070]
• Overall loss-of-function effect with respect to biophysical channel activity [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0144]
• loss_of_function_variant [Sequence Ontology: SO:0002054]