Transcript #00025399 (NM_001177465.1, MAMLD1 gene)

Transcript name transcript variant 1
Gene name MAMLD1 (mastermind-like domain containing 1)
Chromosome X
Transcript - NCBI ID NM_001177465.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001170936.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

77 entries on 1 page. Showing entries 1 - 77.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-63-357A>G r.(=) p.(=)
./. - c.-63-227C>T r.(=) p.(=)
./. - c.-63-103T>C r.(=) p.(=)
./. - c.-63-103T>C r.(=) p.(=)
-?/. - c.18T>C r.(?) p.(Ser6=)
./. - c.97-7169T>C r.(=) p.(=)
./. - c.97-7169T>C r.(=) p.(=)
-?/. - c.97-6965G>A r.(=) p.(=)
./. - c.97-60_97-59del r.(=) p.(=)
-?/. - c.134A>G r.(?) p.(Gln45Arg)
?/. - c.134A>G r.(?) p.(Gln45Arg)
?/. - c.182C>T r.(?) p.(Pro61Leu)
?/. - c.196G>A r.(?) p.(Val66Ile)
-?/. - c.286G>A r.(?) p.(Ala96Thr)
-?/. - c.286G>A r.(?) p.(Ala96Thr)
-?/. - c.289A>G r.(?) p.(Met97Val)
?/. - c.292G>A r.(?) p.(Gly98Arg)
-?/. - c.307T>A r.(?) p.(Ser103Thr)
-?/. - c.372G>T r.(?) p.(Gln124His)
-?/. - c.376A>G r.(?) p.(Thr126Ala)
-?/. - c.434C>T r.(?) p.(Pro145Leu)
?/. - c.434C>T r.(?) p.(Pro145Leu)
?/. - c.471G>C r.(?) p.(Glu157Asp)
-/. - c.530C>T r.(?) p.(Thr177Met)
-?/. - c.530C>T r.(?) p.(Thr177Met)
+?/. - c.596C>A r.(?) p.(Ser199Ter)
-?/. - c.783G>T r.(?) p.(Gln261His)
-?/. - c.784G>A r.(?) p.(Ala262Thr)
-?/. - c.820C>G r.(?) p.(Pro274Ala)
-?/. - c.834C>T r.(?) p.(His278=)
-?/. - c.837C>A r.(?) p.(Ala279=)
-?/. - c.851C>T r.(?) p.(Ala284Val)
?/. - c.891A>C r.(?) p.(Gln297His)
-?/. - c.897C>T r.(?) p.(Pro299=)
-?/. - c.963A>T r.(?) p.(Pro321=)
-/. - c.1216C>T r.(?) p.(Leu406Phe)
-?/. - c.1245A>G r.(?) p.(Gln415=)
-?/. - c.1261G>A r.(?) p.(Ala421Thr)
?/. - c.1292C>A r.(?) p.(Pro431Gln)
-?/. - c.1360C>T r.(?) p.(Leu454=)
-/. - c.1428_1430dup r.(?) p.(Gln477dup)
-?/. - c.1432G>T r.(?) p.(Ala478Ser)
-?/. - c.1624C>T r.(?) p.(Pro542Ser)
-?/. - c.1653G>A r.(?) p.(Pro551=)
-?/. - c.1662G>A r.(?) p.(Thr554=)
-?/. - c.1729C>A r.(?) p.(Gln577Lys)
?/. - c.1731_1739dup r.(?) p.(Gln579_Gln581dup)
-?/. - c.1734G>A r.(?) p.(Gln578=)
./. - c.1842+2040A>G r.(=) p.(=)
./. - c.1842+2040A>G r.(=) p.(=)
?/. - c.1843-6652A>G r.(=) p.(=)
?/. - c.1843-6631G>A r.(=) p.(=)
-?/. - c.1843-6617G>A r.(=) p.(=)
-?/. - c.1843-6580G>A r.(=) p.(=)
-?/. - c.1843-6509C>A r.(=) p.(=)
-?/. - c.1843-6476C>T r.(=) p.(=)
-?/. - c.1843-6454G>A r.(=) p.(=)
-?/. - c.1843-6452C>T r.(=) p.(=)
-?/. - c.1961G>A r.(?) p.(Arg654Gln)
-?/. - c.1969G>T r.(?) p.(Ala657Ser)
-?/. - c.2009C>T r.(?) p.(Thr670Ile)
?/. - c.2014C>T r.(?) p.(Leu672Phe)
-?/. - c.2061C>A r.(?) p.(His687Gln)
-/. - c.2208C>T r.(?) p.(Ser736=)
-?/. - c.2333A>G r.(?) p.(Asn778Ser)
?/. - c.2351C>T r.(?) p.(Ala784Val)
-?/. - c.2455C>T r.(?) p.(Pro819Ser)
-?/. - c.2486C>T r.(?) p.(Ala829Val)
?/. - c.2497C>A r.(?) p.(Gln833Lys)
?/. - c.2573C>T r.(?) p.(Pro858Leu)
-?/. - c.2574G>A r.(?) p.(Pro858=)
-?/. - c.2730G>A r.(?) p.(Pro910=)
-?/. - c.2741C>T r.(?) p.(Thr914Met)
-?/. - c.2744A>C r.(?) p.(Asp915Ala)
-?/. - c.2744A>C r.(?) p.(Asp915Ala)
-?/. - c.2772C>T r.(?) p.(Asp924=)
-?/. - c.2854T>G r.(?) p.(Leu952Val)
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