Transcript #00018521 (NM_000334.4, SCN4A gene)

Transcript name sodium channel, voltage-gated, type IV, alpha subunit
Gene name SCN4A (sodium channel, voltage-gated, type IV, alpha subunit)
Chromosome 17
Transcript - NCBI ID NM_000334.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000325.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

968 entries on 10 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.92G>T r.(?) p.(Arg31Leu)
?/. - c.118C>T r.(?) p.(Gln40Ter)
+/+ 1 c.201G>C r.(?) p.(Arg67Pro)
-?/. - c.241G>C r.(?) p.(Glu81Gln)
-?/. - c.248T>C r.(?) p.(Leu83Pro)
+/. - c.311G>A r.(?) p.(Arg104His)
?/. - c.314T>C r.(?) p.(Phe105Ser)
?/. - c.319G>A r.(?) p.(Ala107Thr)
-?/. - c.355G>A r.(?) p.(Val119Ile)
?/. 2 c.355G>A r.(?) p.(Val119Ile)
-?/. - c.355G>A r.(?) p.(Val119Ile)
?/. - c.355G>A r.(?) p.(Val119Ile)
+?/. - c.364C>T r.(?) p.(Arg122Cys)
-/. 2 c.366C>T r.(?) p.(Arg122Arg)
-/- 2 c.366C>T r.(?) p.(Arg122Arg)
-/- 2 c.366C>T r.(?) p.(Arg122Arg)
-/- 2 c.366C>T r.(?) p.(Arg122Arg)
-/- 2 c.366C>T r.(?) p.(Arg122Arg)
-/- 2 c.366C>T r.(?) p.(Arg122Arg)
-/- 2 c.366C>T r.(?) p.(Arg122Arg)
-/- 2 c.366C>T r.(?) p.(Arg122Arg)
-/- 2 c.366C>T r.(?) p.(Arg122Arg)
-/- 2 c.366C>T r.(?) p.(Arg122Arg)
-/- 2 c.366C>T r.(?) p.(Arg122Arg)
-/- 2 c.366C>T r.(?) p.(Arg122Arg)
-/- 2 c.366C>T r.(?) p.(Arg122Arg)
-/. - c.366C>T r.(?) p.(Arg122=)
-/. - c.366C>T r.(=) p.(=)
?/. 2i c.392+25C>T r.(?) p.(=)
?/. 2i c.392+25C>T r.(?) p.(=)
-/. - c.392+25C>T r.(=) p.(=)
?/. - c.392+31G>C r.(=) p.(=)
-?/. - c.393-6C>A r.(=) p.(=)
-?/. - c.403A>C r.(?) p.(Met135Leu)
-?/. - c.404T>C r.(?) p.(Met135Thr)
+/. - c.421A>G r.(?) p.(Ile141Val)
?/. - c.443T>C r.(?) p.(Met148Thr)
?/. 3i c.483-25C>T r.(?) p.(=)
?/. 3i c.483-25C>T r.(?) p.(=)
?/. 3i c.483-25C>T r.(?) p.(=)
-/. 3i c.483-25T>C r.(=) p.(=)
?/. - c.483-5C>G r.spl? p.?
?/. 4 c.489C>G r.(?) p.(Thr163Thr)
-/. - c.489C>G r.(?) p.(Thr163=)
+?/. - c.497G>A r.(?) p.(Gly166Glu)
+/. - c.608T>A r.(?) p.(Met203Lys)
+/. - c.608T>A r.(?) p.(Met203Lys)
+/. - c.608T>A r.(?) p.(Met203Lys)
?/. - c.612-35C>G r.(=) p.(=)
+?/. 5 c.644T>C r.(?) p.(Ile215Thr)
+/. 5 c.644T>C r.(?) p.(Ile215Thr)
+/. - c.664C>T r.(?) p.(Arg222Trp)
+/. - c.673C>T r.(?) p.(Arg225Trp)
+?/. - c.673C>T r.(?) p.(Arg225Trp)
?/. - c.679C>T r.(?) p.(Leu227Phe)
-/- 5i c.703+55C>T r.(?) p.(=)
-/- 5i c.703+55C>T r.(?) p.(=)
-/- 5i c.703+55C>T r.(?) p.(=)
-/- 5i c.703+55C>T r.(?) p.(=)
-/- 5i c.703+55C>T r.(?) p.(=)
-/- 5i c.703+55C>T r.(?) p.(=)
-/- 5i c.703+55C>T r.(?) p.(=)
-/- 5i c.703+55C>T r.(?) p.(=)
-/- 5i c.703+55C>T r.(?) p.(=)
-/- 5i c.703+55C>T r.(?) p.(=)
-/- 5i c.703+55C>T r.(?) p.(=)
-/- 5i c.703+55C>T r.(?) p.(=)
-/- 5i c.703+55C>T r.(?) p.(=)
-/- 5i c.703+55C>T r.(?) p.(=)
-/- 5i c.703+55C>T r.(?) p.(=)
-/- 5i c.703+55C>T r.(?) p.(=)
-/- 5i c.703+55C>T r.(?) p.(=)
-/- 5i c.703+55C>T r.(?) p.(=)
-/- 5i c.703+55C>T r.(?) p.(=)
-/- 5i c.703+55C>T r.(?) p.(=)
-/- 5i c.703+55C>T r.(?) p.(=)
-/- 5i c.703+55C>T r.(?) p.(=)
-/. 5i c.703+55T>C r.(=) p.(=)
?/. 6 c.704-95A>G r.(?) p.(=)
+?/. 6 c.716T>G r.(?) p.(Ile239Ser)
+/+ 6 c.748C>G r.(?) p.(Leu250Val)
+/+ 6 c.749T>C r.(?) p.(Leu250Pro)
+/+ 6 c.749T>C r.(?) p.(Leu250Pro)
?/. - c.787G>A r.(?) p.(Val263Ile)
+/+ 6 c.796C>G r.(?) p.(Leu266Val)
+?/. 6 c.825C>A r.(?) p.(Asn275Lys)
-/- 6 c.864C>T r.(?) p.(Asn288Asn)
-/- 6 c.864C>T r.(?) p.(Asn288Asn)
-/- 6 c.864C>T r.(?) p.(Asn288Asn)
-/- 6 c.864C>T r.(?) p.(Asn288Asn)
-/- 6 c.864C>T r.(?) p.(Asn288Asn)
-/. - c.864C>T r.(?) p.(Asn288=)
-/. - c.864C>T r.(=) p.(=)
-/. - c.864C>T r.(=) p.(=)
-?/. - c.952T>C r.(?) p.(Trp318Arg)
?/. - c.957T>G r.(?) p.(Tyr319Ter)
?/. 6 c.968C>T r.(?) p.(Thr323Met)
-?/. - c.968C>T r.(?) p.(Thr323Met)
?/. - c.968C>T r.(?) p.(Thr323Met)
-/- 7i c.1100+7G>A r.(?) p.(=)
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