Transcript #00014163 (NM_033118.3, MYLK2 gene)

Transcript name myosin light chain kinase 2
Gene name MYLK2 (myosin light chain kinase 2)
Chromosome 20
Transcript - NCBI ID NM_033118.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_149109.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

93 entries on 1 page. Showing entries 1 - 93.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.4G>A r.(?) p.(Ala2Thr)
-?/. - c.4G>A r.(?) p.(Ala2Thr)
-?/. - c.4G>A r.(?) p.(Ala2Thr)
?/. - c.15T>G r.(?) p.(Asn5Lys)
-?/. - c.21A>G r.(?) p.(Ala7=)
?/. - c.51A>G r.(?) p.(Thr17=)
-?/. - c.70C>T r.(?) p.(Pro24Ser)
-?/. - c.102A>G r.(?) p.(Lys34=)
-?/. - c.173C>A r.(?) p.(Ala58Asp)
-?/. - c.173C>A r.(?) p.(Ala58Asp)
-?/. - c.191G>C r.(?) p.(Gly64Ala)
?/. - c.244_245del r.(?) p.(Arg82GlyfsTer23)
-?/. - c.260C>T r.(?) p.(Ala87Val)
-/. - c.266G>A r.(?) p.(Gly89Asp)
?/. - c.277C>A r.(?) p.(Pro93Thr)
-?/. - c.284C>A r.(?) p.(Ala95Glu)
-?/. - c.284C>A r.(?) p.(Ala95Glu)
-?/. - c.284C>A r.(?) p.(Ala95Glu)
-?/. - c.284C>A r.(?) p.(Ala95Glu)
-?/. - c.331C>T r.(?) p.(Pro111Ser)
-?/. - c.417C>T r.(?) p.(Ala139=)
-?/. - c.417C>T r.(?) p.(Ala139=)
-?/. - c.417C>T r.(?) p.(Ala139=)
-?/. - c.425G>T r.(?) p.(Gly142Val)
-/. - c.430C>G r.(?) p.(Pro144Ala)
-/. - c.430C>G r.(?) p.(Pro144Ala)
?/. - c.443A>G r.(?) p.(His148Arg)
-?/. - c.463A>T r.(?) p.(Ile155Phe)
?/. - c.463A>T r.(?) p.(Ile155Phe)
-?/. - c.508G>A r.(?) p.(Glu170Lys)
-?/. - c.508G>A r.(?) p.(Glu170Lys)
-?/. - c.633C>T r.(?) p.(Thr211=)
-/. - c.684T>C r.(?) p.(Ile228=)
?/. - c.694del r.(?) p.(Ala232LeufsTer43)
?/. - c.715G>A r.(?) p.(Glu239Lys)
-?/. - c.772+14A>T r.(=) p.(=)
-?/. - c.783G>A r.(?) p.(Pro261=)
-?/. - c.834T>A r.(?) p.(Asn278Lys)
?/. - c.834T>A r.(?) p.(Asn278Lys)
-/. - c.918C>T r.(?) p.(Ala306=)
-/. - c.918C>T r.(?) p.(Ala306=)
-?/. - c.972+14G>A r.(=) p.(=)
-?/. - c.972+14G>A r.(=) p.(=)
?/. - c.1016A>G r.(?) p.(His339Arg)
?/. - c.1019G>A r.(?) p.(Arg340His)
-?/. - c.1047C>T r.(?) p.(Ile349=)
?/. - c.1048G>T r.(?) p.(Glu350Ter)
-/. - c.1068C>T r.(?) p.(Val356=)
?/. - c.1073_1082+2del r.spl? p.?
?/. - c.1078del r.(?) p.(Glu360SerfsTer19)
-/. - c.1082+11G>A r.(=) p.(=)
-?/. - c.1082+11G>A r.(=) p.(=)
-?/. - c.1083-4A>G r.spl? p.?
-?/. - c.1086C>T r.(?) p.(Ile362=)
-/. - c.1104C>T r.(?) p.(Phe368=)
-?/. - c.1104C>T r.(=) p.(=)
-?/. - c.1123G>A r.(?) p.(Asp375Asn)
?/. - c.1123G>A r.(?) p.(Asp375Asn)
?/. - c.1123G>A r.(?) p.(Asp375Asn)
?/. - c.1169T>C r.(?) p.(Ile390Thr)
-?/. - c.1204G>T r.(?) p.(Val402Phe)
-?/. - c.1224+8A>C r.(=) p.(=)
-?/. - c.1225-13C>G r.(=) p.(=)
?/. - c.1253C>T r.(?) p.(Thr418Ile)
-?/. - c.1295+4C>A r.spl? p.?
-?/. - c.1295+4C>A r.spl? p.?
-?/. - c.1295+4C>A r.spl? p.?
-?/. - c.1308C>T r.(?) p.(Asn436=)
-?/. - c.1308C>T r.(?) p.(Asn436=)
-?/. - c.1356G>A r.(?) p.(Glu452=)
-?/. - c.1356G>A r.(?) p.(Glu452=)
-?/. - c.1356G>A r.(?) p.(Glu452=)
-?/. - c.1356G>A r.(?) p.(Glu452=)
-?/. - c.1377C>A r.(?) p.(Ile459=)
-?/. - c.1458T>C r.(?) p.(Asp486=)
-?/. - c.1458T>C r.(?) p.(Asp486=)
-?/. - c.1533C>T r.(?) p.(Asp511=)
-?/. - c.1584G>A r.(?) p.(Arg528=)
-?/. - c.1584G>A r.(?) p.(Arg528=)
-?/. - c.1584G>A r.(?) p.(Arg528=)
?/. - c.1613C>T r.(?) p.(Pro538Leu)
?/. - c.1655G>A r.(?) p.(Arg552Gln)
-?/. - c.1656A>T r.(?) p.(Arg552=)
-?/. - c.1659C>T r.(?) p.(Arg553=)
?/. - c.1702C>T r.(?) p.(Arg568Cys)
?/. - c.1702C>T r.(?) p.(Arg568Cys)
-?/. - c.1710+8T>C r.(=) p.(=)
-/. - c.1710+15A>G r.(=) p.(=)
-?/. - c.1710+15A>T r.(=) p.(=)
-/. - c.1711-20C>G r.(=) p.(=)
-/. - c.1711-6C>T r.(=) p.(=)
-?/. - c.1778C>T r.(?) p.(Ala593Val)
-?/. - c.1790G>A r.(?) p.(Ter597=)
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