Transcript #00024048 (NM_170784.2, MKKS gene)

Transcript name transcript variant 2
Gene name MKKS (McKusick-Kaufman syndrome)
Chromosome 20
Transcript - NCBI ID NM_170784.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_740754.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.? r.(?) p.F94SfsX9
+?/. - c.? r.(?) p.?
+?/. - c.? r.(?) p.?
+?/. - c.? r.(?) p.?
+?/. - c.? r.(?) p.?
+/. - c.? r.(?) p.?
+/. - c.? r.(?) p.?
?/. 1 c.-3436C>T r.(?) p.?
+/. 1 c.? r.(?) p.?
-/. 3 c.16G>A r.(?) p.(Ala6Thr)
-/. - c.16G>A r.(?) p.(Ala6Thr)
?/. - c.59A>G r.(?) p.(Glu20Gly)
-?/. 3 c.67A>G r.(?) p.(Arg23Gly)
-?/. - c.67A>G r.(?) p.(Arg23Gly)
./. 3 c.67A>G r.(?) p.(Arg23Gly)
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys)
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys)
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys)
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys)
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys)
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys)
+/. 3 c.110A>G r.(?) p.(Tyr37Cys)
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys)
+?/. - c.110A>G r.(?) p.(Tyr37Cys)
+/. - c.110A>G r.(?) p.(Tyr37Cys)
+/. - c.110A>G r.(?) p.(Tyr37Cys)
+/. - c.110A>G r.(?) p.(Tyr37Cys)
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys)
-?/. 3 c.114C>T r.(?) p.(Gly38=)
+?/. 3 c.116C>T r.(?) p.(Pro39Leu)
+/. 3 c.117C>T r.(=) p.(=)
-/. 3 c.117C>T r.(?) p.(Pro39=)
-/. 3 c.117C>T r.(?) p.(Pro39=)
+/. 3 c.121G>C r.(?) p.(Gly41Arg)
+?/. 3 c.121G>C r.(?) p.(Gly41Arg)
?/. 3 c.166A>G r.(?) p.(Thr56Ala)
+?/. 3 c.169A>G r.(?) p.(Thr57Ala)
?/. 3 c.169A>G r.(?) p.(Thr57Ala)
-/. 3 c.207C>T r.(?) p.(Val69=)
+?/. 3 c.269A>G r.(?) p.(Asp90Gly)
+/. 3 c.295T>C r.(?) p.(Cys99Arg)
+?/. 3 c.295T>C r.(?) p.(Cys99Arg)
+?/. - c.295T>C r.(?) p.(Cys99Arg)
-?/. - c.336A>G r.(?) p.(Thr112=)
?/. - c.363A>C r.(?) p.(Lys121Asn)
+?/. 3 c.380del r.(?) p.(Cys127Serfs*32)
-?/. 3 c.416G>A r.(?) p.(Arg139Gln)
-/. - c.416G>A r.(?) p.(Arg139Gln)
-?/. - c.420C>T r.(?) p.(Ile140=)
?/. 3 c.429delCT r.(?) p.?
?/. 3 c.429_433delinsTT r.(?) p.(Phe144_Ser145delinsCys)
+?/. 3 c.433delAG r.(?) p.?
?/. - c.485C>T r.(?) p.(Pro162Leu)
-/. 3 c.534C>T r.(?) p.(Ile178=)
-/. 3 c.534C>T r.(?) p.(Ile178=)
+/. 3 c.541G>C r.(?) p.(Ala181Pro)
+/. 3 c.541G>C r.(?) p.(Ala181Pro)
-?/. - c.636C>T r.(?) p.(Ser212=)
?/. 3 c.676C>A r.(?) p.(Gln226Lys)
+?/. 3 c.706T>C r.(?) p.(Ser236Pro)
+/. 3 c.709A>C r.(?) p.(Thr237Pro)
?/. 3 c.709A>G r.(?) p.(Thr237Ala)
?/. - c.724G>A r.(?) p.(Ala242Thr)
-?/. 3 c.724G>T r.(?) p.(Ala242Ser)
?/. - c.724G>T r.(?) p.(Ala242Ser)
-?/. 3 c.724G>T r.(?) p.(Ala242Ser)
+?/. 3 c.724G>T r.(?) p.(Ala242Ser)
?/. 3 c.724G>T r.(?) p.(Ala242Ser)
+?/. 3 c.724G>T r.(?) p.(Ala242Ser)
?/. 3 c.724G>T r.(?) p.(Ala242Ser)
+?/. 3 c.724G>T r.(?) p.(Ala242Ser)
-?/. 3 c.724G>T r.(?) p.(Ala242Ser)
+?/. 3 c.724G>T r.(?) p.(Ala242Ser)
+/. - c.724G>T r.(?) p.(Ala242Ser)
?/. 3 c.724G>T r.(?) p.(Ala242Ser)
-?/. 3 c.724G>T r.(?) p.(Ala242Ser)
-?/. 3 c.724G>T r.(?) p.(Ala242Ser)
-?/. 3 c.724G>T r.(?) p.(Ala242Ser)
-?/. - c.724G>T r.(?) p.(Ala242Ser)
-/. 3 c.724G>T r.(?) p.(Ala242Ser)
+?/. 3 c.724G>T r.(?) p.(Ala242Ser)
+?/. 3 c.724G>T r.(?) p.(Ala242Ser)
+?/. 3 c.724G>T r.(?) p.(Ala242Ser)
+/. - c.732_733del r.(?) p.(Phe244LeufsTer10)
+?/. 3 c.748G>A r.(?) p.(Gly250Arg)
+/. 3 c.748G>A r.(?) p.(Gly250Arg)
?/. 3 c.757T>C r.(?) p.(Ser253Pro)
-/. - c.757T>C r.(?) p.(Ser253Pro)
+/. - c.760G>T r.(?) p.(Asp254Tyr)
+/. - c.763dup r.(?) p.(Thr255AsnfsTer15)
?/. - c.775del r.(?) p.(Thr259Leufs*21)
+/. - c.775del r.(?) p.(Thr259Leufs*21)
+?/. 3 c.830T>C r.(?) p.(Leu277Pro)
+?/. - c.830T>C r.(?) p.(Leu277Pro)
+/. 3 c.837del r.(?) p.(Gly280Glufs*4)
+?/. - c.837del r.(?) p.(Gly280Glufs*4)
+?/. - c.844C>T r.(?) p.(Gln282*)
+?/. 3 c.871G>T r.(?) p.(Val291Phe)
+?/. 3 c.871G>T r.(?) p.(Val291Phe)
+/. 3 c.890T>C r.(?) p.(Ile297Thr)
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