ClinVar

NM_001330260.2(SCN8A):c.5359A>C (p.Thr1787Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 51806845 (on Assembly GRCh38)
• Chr12: 52200629 (on Assembly GRCh37)

Preferred name:

NM_001330260.2(SCN8A):c.5359A>C (p.Thr1787Pro)

HGVS:

• NC_000012.12:g.51806845A>C
• NG_021180.3:g.221888A>C
• NM_001177984.3:c.5236A>C
• NM_001330260.2:c.5359A>CMANE SELECT
• NM_001369788.1:c.5236A>C
• NM_014191.3:c.5359A>C
• NM_014191.4:c.5359A>C
• NP_001171455.1:p.Thr1746Pro
• NP_001317189.1:p.Thr1787Pro
• NP_001356717.1:p.Thr1746Pro
• NP_055006.1:p.Thr1787Pro
• LRG_1389t1:c.5359A>C
• LRG_1389t2:c.5359A>C
• LRG_1389:g.221888A>C
• LRG_1389p1:p.Thr1787Pro
• LRG_1389p2:p.Thr1787Pro
• NC_000012.11:g.52200629A>C

This HGVS expression did not pass validation

Protein change:

T1746P

Molecular consequence:

• NM_001177984.3:c.5236A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330260.2:c.5359A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369788.1:c.5236A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_014191.4:c.5359A>C - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

• Acceleration of recovery from fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0053]
• Depolarizing shift of voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0022]
• Hyperpolarizing shift of voltage dependence of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0065]
• Overall loss-of-function effect with respect to biophysical channel activity [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0144]
• Severe decrease in peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0087]