Gene | cDNA | Protein | Mutation type | Genomic region | Protein region | Phenotype | References |
---|---|---|---|---|---|---|---|
KCNQ1 | NM_000218 | NP_000209 | |||||
c.217C > A | p.P73T | Missense | Exon_01 | N-term | RWS | ||
DK | c.470T > G | p.F157C | Missense | Exon_02 | S2 | RWS | [17] |
c.572-576del | p.L191fs | Frameshift | Exon_03 | S2-S3 | RWS | ||
c.592A > G | p.I198V | Missense | Exon_03 | S2-S3 | RWS | [4] | |
c.674C > T | p.S225L | Missense | Exon_04 | S3-S4 | RWS | ||
c.667C > T | p.A226V | Missense | Exon_04 | S3-S4 | RWS | ||
c.760G > A* | p.V254M | Missense | Exon_05 | S4-S5 | RWS | ||
c.817C > T* | p.L273F | Missense | Exon_06 | S5 | RWS | ||
c.905C > T | p.A302V | Missense | Exon_06 | Pore | RWS | ||
c.944A > G* | p.Y315C | Missense | Exon_07 | Pore | RWS | ||
c.1015-1017del | p.F339del | Deletion | Exon_07 | S6 | RWS | [32] | |
DK | IVS6_IVS10del | Unknown | Deletion | Exon_07-Exon_9 | Unknown | RWS | This study |
c.1017-1019del | p.F340del | Deletion | Exon_07 | S6 | RWS | ||
c.1032G > A | p.A344sp | Splice-site | IVS_07 | C-term | RWS | ||
c.1048G > A | p.G350R | Missense | Exon_08 | C-term | RWS | ||
DK | c.1087C > A | p.H363N | Missense | Exon_08 | C-term | RWS | |
c.1096C > T | p.R366W | Missense | Exon_08 | C-term | RWS | ||
c.1202insC | p.P400fs | Frameshift | Exon_09 | C-term | RWS | ||
c.1588C > T* | p.Q530X | Nonsense | Exon_12 | C-term | RWS | ||
c.1747C > T* | p.R583C | Missense | Exon_15 | C-term | RWS | ||
DK | c.1747C > G | p.R583G | Missense | Exon_15 | C-term | RWS | This study |
c.1748G > A | p.R583H | Missense | Exon_15 | C-term | RWS | [38] |