ClinVar

NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met)

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: 63414092 (on Assembly GRCh38)
• Chr20: 62045445 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met)

Other names:

p.V543M:GTG>ATG

HGVS:

• NC_000020.11:g.63414092C>T
• NG_009004.2:g.63549G>A
• NM_004518.6:c.1543G>A
• NM_172106.3:c.1573G>A
• NM_172107.4:c.1627G>AMANE SELECT
• NM_172108.5:c.1534G>A
• NP_004509.2:p.Val515Met
• NP_742104.1:p.Val525Met
• NP_742105.1:p.Val543Met
• NP_742106.1:p.Val512Met
• NC_000020.10:g.62045445C>T
• NM_172107.2:c.1627G>A

This HGVS expression did not pass validation

Protein change:

V512M

Links:

dbSNP: rs794727134

NCBI 1000 Genomes Browser:

rs794727134

Molecular consequence:

• NM_004518.6:c.1543G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172106.3:c.1573G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172107.4:c.1627G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172108.5:c.1534G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

• Severe decrease in peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0087]
• 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]