ClinVar

NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)

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: 63445322 (on Assembly GRCh38)
• Chr20: 62076675 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)

Other names:

KCNQ2

HGVS:

• NC_000020.11:g.63445322G>A
• NG_009004.2:g.32319C>T
• NM_004518.6:c.430C>T
• NM_172106.3:c.430C>T
• NM_172107.4:c.430C>TMANE SELECT
• NM_172108.5:c.430C>T
• NM_172109.3:c.430C>T
• NP_004509.2:p.Arg144Trp
• NP_742104.1:p.Arg144Trp
• NP_742105.1:p.Arg144Trp
• NP_742106.1:p.Arg144Trp
• NP_742107.1:p.Arg144Trp
• NC_000020.10:g.62076675G>A
• NM_172107.2:c.430C>T
• NM_172107.3:c.430C>T

This HGVS expression did not pass validation

Protein change:

R144W

Links:

Molecular consequence:

• NM_004518.6:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172106.3:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172107.4:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172108.5:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172109.3:c.430C>T - 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:

2