ClinVar

NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln)

Gene:

KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.33

Genomic location:

• Chr20: 63445321 (on Assembly GRCh38)
• Chr20: 62076674 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln)

Other names:

p.R144Q:CGG>CAG; KCNQ2

HGVS:

• NC_000020.11:g.63445321C>T
• NG_009004.2:g.32320G>A
• NM_004518.6:c.431G>A
• NM_172106.3:c.431G>A
• NM_172107.4:c.431G>AMANE SELECT
• NM_172108.5:c.431G>A
• NM_172109.3:c.431G>A
• NP_004509.2:p.Arg144Gln
• NP_742104.1:p.Arg144Gln
• NP_742105.1:p.Arg144Gln
• NP_742106.1:p.Arg144Gln
• NP_742107.1:p.Arg144Gln
• NC_000020.10:g.62076674C>T
• NM_004518.5:c.431G>A
• NM_172107.2:c.431G>A
• NM_172107.3:c.431G>A

This HGVS expression did not pass validation

Protein change:

R144Q

Links:

dbSNP: rs796052618

NCBI 1000 Genomes Browser:

rs796052618

Molecular consequence:

• NM_004518.6:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172106.3:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172107.4:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172108.5:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172109.3:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

• Moderate decrease in peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0086]
• Severe hyperpolarizing shift of voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0031]
• Severe slowing of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0015]

Observations:

1