Transcript #00010347 (NM_000219.4, KCNE1 gene)

Transcript name transcript variant 2
Gene name KCNE1 (potassium voltage-gated channel, Isk-related family, member 1)
Chromosome 21
Transcript - NCBI ID NM_000219.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000210.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

127 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-982063_*517476del r.0? p.0?
-/. - c.-685C>T r.(?) p.(=)
-/. - c.-577C>T r.(?) p.(=)
-?/. - c.-253A>G r.(?) p.(=)
-/. - c.-252G>A r.(?) p.(=)
?/? 4 c.-3del r.(=) p.(=)
?/. - c.4A>T r.(?) p.(Ile2Phe)
-?/. - c.8T>C r.(?) p.(Leu3Pro)
+/+ 4 c.9_12del r.(?) p.(Ser4Thrfs*5)
+/+ 4 c.12dup r.(?) p.(Asn5*)
-?/-? 4 c.18C>G r.(=) p.(=)
+/+ 4 c.20C>T r.(?) p.(Thr7Ile)
+/+ 4 c.23C>T r.(?) p.(Ala8Val)
+/+ 4 c.29C>T r.(?) p.(Thr10Met)
?/. - c.29C>T r.(?) p.(Thr10Met)
?/. - c.29C>T r.(?) p.(Thr10Met)
?/. - c.29C>T r.(?) p.(Thr10Met)
?/. - c.29C>T r.(?) p.(Thr10Met)
-/. - c.30G>A r.(?) p.(Thr10=)
-?/-? 4 c.30G>T r.(=) p.(=)
+/+ 4 c.47T>C r.(?) p.(Leu16Pro)
?/. - c.49T>C r.(?) p.(Trp17Arg)
+/+ 4 c.50G>A r.(?) p.(Trp17*)
+/+ 4 c.59C>T r.(?) p.(Thr20Ile)
+/+ 4 c.74G>T r.(?) p.(Gly25Val)
+/+ 4 c.83C>T r.(?) p.(Ser28Leu)
-?/. - c.84G>A r.(?) p.(Ser28=)
-/. - c.84G>A r.(?) p.(Ser28=)
-/. - c.84G>A r.(?) p.(Ser28=)
-?/. - c.84G>A r.(?) p.(Ser28=)
?/. - c.85G>A r.(?) p.(Gly29Ser)
+/+ 4 c.94C>T r.(?) p.(Arg32Cys)
+?/+? 4 c.95G>A r.(?) p.(Arg32His)
?/. - c.106C>T r.(?) p.(Arg36Cys)
?/. - c.106C>T r.(?) p.(Arg36Cys)
+/+ 4 c.107G>A r.(?) p.(Arg36His)
-?/. - c.107G>A r.(?) p.(Arg36His)
?/? 4 c.109A>G r.(?) p.(Ser37Gly)
-/. - c.111C>T r.(?) p.(Ser37=)
-/. - c.112A>G r.(?) p.(Ser38Gly)
-/. - c.112A>G r.(?) p.(Ser38Gly)
-/- 4 c.112A>G r.(?) p.(Ser38Gly)
-/- 4 c.112A>G r.(?) p.(Ser38Gly)
-/- 4 c.112A>G r.(?) p.(Ser38Gly)
-/- 4 c.112A>G r.(?) p.(Ser38Gly)
-/. - c.112A>G r.(?) p.(Ser38Gly)
-/. - c.112A>G r.(?) p.(Ser38Gly)
-/- 4 c.115G>A r.(?) p.(Asp39Asn)
-?/. - c.117C>T r.(?) p.(Asp39=)
-?/. - c.129G>A r.(?) p.(Glu43=)
?/. - c.139G>A r.(?) p.(Val47Ile)
+/+ 4 c.139G>T r.(?) p.(Val47Phe)
?/. - c.142C>T r.(?) p.(Leu48Phe)
?/. - c.142C>T r.(?) p.(Leu48Phe)
+/+ 4 c.147G>A r.(?) p.(Met49Ile)
?/. - c.148G>A r.(?) p.(Val50Ile)
+/+ 4 c.152_153delinsAT r.(?) p.(Leu51His)
+/+ 4 c.154G>A r.(?) p.(Gly52Arg)
-/- 4 c.155G>C r.(?) p.(Gly52Ala)
+/+ 4 c.158T>C r.(?) p.(Phe53Ser)
+?/+? 4 c.160T>G r.(?) p.(Phe54Val)
-/. - c.162C>T r.(?) p.(Phe54=)
-?/. - c.162C>T r.(?) p.(Phe54=)
-?/. - c.162C>T r.(?) p.(Phe54=)
+/+ 4 c.163G>A r.(?) p.(Gly55Ser)
?/. - c.163G>A r.(?) p.(Gly55Ser)
-?/. - c.163G>A r.(?) p.(Gly55Ser)
+/+ 4 c.172A>C r.(?) p.(Thr58Pro)
+/+ 4 c.172_177delinsCCCCCT r.(?) p.(Thr58_Leu59delinsProPro)
-?/. - c.174C>G r.(?) p.(Thr58=)
-/. - c.174C>G r.(?) p.(Thr58=)
-?/. - c.174C>G r.(?) p.(Thr58=)
-?/-? 4 c.174C>G r.(=) p.(=)
+/+ 4 c.176T>C r.(?) p.(Leu59Pro)
+/+ 4 c.179G>A r.(?) p.(Gly60Asp)
+/+ 4 c.199C>T r.(?) p.(Arg67Cys)
?/. - c.200G>A r.(?) p.(Arg67His)
+/+ 4 c.200G>A r.(?) p.(Arg67His)
?/? 4 c.202T>A r.(?) p.(Ser68Thr)
-/- 4 c.206A>G r.(?) p.(Lys69Arg)
-?/-? 4 c.206A>G r.(?) p.(Lys69Arg)
+/+ 4 c.209A>T r.(?) p.(Lys70Met)
+/+ 4 c.210G>C r.(?) p.(Lys70Asn)
-/- 4 c.220T>G r.(?) p.(Ser74Ala)
+/+ 4 c.221C>T r.(?) p.(Ser74Leu)
+/. - c.226G>A r.(?) p.(Asp76Asn)
+/. - c.226G>A r.(?) p.(Asp76Asn)
+/+ 4 c.226G>A r.(?) p.(Asp76Asn)
+/+ 4 c.227_229delinsTCTA r.(?) p.(Asp76Valfs*35)
-/- 4 c.235A>G r.(?) p.(Asn79Asp)
-?/. - c.237C>T r.(?) p.(Asn79=)
?/? 3 c.238G>A r.(?) p.(Val80Ile)
+?/+? 4 c.238G>A r.(?) p.(Val80Ile)
-?/. - c.238G>A r.(?) p.(Val80Ile)
-?/. - c.238G>T r.(?) p.(Val80Phe)
+/+ 4 c.242A>G r.(?) p.(Tyr81Cys)
-/- 4 c.242A>T r.(?) p.(Tyr81Phe)
?/. - c.247G>A r.(?) p.(Glu83Lys)
+/+ 4 c.247G>A r.(?) p.(Glu83Lys)
-/. - c.252C>T r.(?) p.(Ser84=)
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