ClinVar

NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu)

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: 63438644 (on Assembly GRCh38)
• Chr20: 62069997 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu)

Other names:

p.P335L:CCG>CTG

HGVS:

• NC_000020.11:g.63438644G>A
• NG_009004.2:g.38997C>T
• NM_004518.6:c.1004C>T
• NM_172106.3:c.1004C>T
• NM_172107.4:c.1004C>TMANE SELECT
• NM_172108.5:c.1004C>T
• NM_172109.3:c.1004C>T
• NP_004509.2:p.Pro335Leu
• NP_742104.1:p.Pro335Leu
• NP_742105.1:p.Pro335Leu
• NP_742106.1:p.Pro335Leu
• NP_742107.1:p.Pro335Leu
• NC_000020.10:g.62069997G>A
• NM_172107.2:c.1004C>T

This HGVS expression did not pass validation

Protein change:

P335L

Links:

dbSNP: rs796052641

NCBI 1000 Genomes Browser:

rs796052641

Molecular consequence:

• NM_004518.6:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172106.3:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172107.4:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172108.5:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172109.3:c.1004C>T - 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]

Observations:

1