ClinVar

NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 51807100 (on Assembly GRCh38)
• Chr12: 52200884 (on Assembly GRCh37)

Preferred name:

NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)

HGVS:

• NC_000012.12:g.51807100C>T
• NG_021180.3:g.222143C>T
• NM_001177984.3:c.5491C>T
• NM_001330260.2:c.5614C>TMANE SELECT
• NM_001369788.1:c.5491C>T
• NM_014191.4:c.5614C>T
• NP_001171455.1:p.Arg1831Trp
• NP_001317189.1:p.Arg1872Trp
• NP_001356717.1:p.Arg1831Trp
• NP_055006.1:p.Arg1872Trp
• NP_055006.1:p.Arg1872Trp
• LRG_1389t1:c.5614C>T
• LRG_1389t2:c.5614C>T
• LRG_1389:g.222143C>T
• LRG_1389p1:p.Arg1872Trp
• LRG_1389p2:p.Arg1872Trp
• NC_000012.11:g.52200884C>T
• NM_014191.2:c.5614C>T
• NM_014191.3:c.5614C>T
• Q9UQD0:p.Arg1872Trp
• p.R1872W

This HGVS expression did not pass validation

Protein change:

R1831W

Links:

UniProtKB: Q9UQD0#VAR_071681; dbSNP: rs796053228

NCBI 1000 Genomes Browser:

rs796053228

Molecular consequence:

• NM_001177984.3:c.5491C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330260.2:c.5614C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369788.1:c.5491C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014191.4:c.5614C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

• Increase in persistent current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0040]
• 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]
• Overall gain-of-function effect with respect to biophysical channel activity [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0140]
• Slowing of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0048]