Transcript #00013701

Transcript name methylmalonic aciduria (cobalamin deficiency) cblA type
Gene name MMAA (methylmalonic aciduria (cobalamin deficiency) cblA type)
Chromosome 4
Transcript - NCBI ID NM_172250.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_758454.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

19 entries on 1 page. Showing entries 1 - 19.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.92G>A r.(?) p.(Ser31Asn)
+/. - c.433C>T r.(?) p.(Arg145*)
+/. - c.433C>T r.(?) p.(Arg145Ter)
+/. - c.433C>T r.(?) p.(Arg145Ter)
+/. - c.586C>T r.(?) p.(Arg196Ter)
+/. - c.593_596del r.(?) p.(Thr198Serfs*6)
+?/. - c.651dup r.(?) p.(Gly218Argfs*9)
+/. - c.742C>T r.(?) p.(Gln248Ter)
-/. - c.747G>A r.(?) p.(Ser249=)
-/. - c.747G>A r.(?) p.(Ser249=)
?/. - c.941G>A r.(?) p.(Arg314His)
-?/. - c.966A>G r.(?) p.(Pro322=)
+/. - c.988C>T r.(?) p.(Arg330*)
?/. - c.1079G>A r.(?) p.(Arg360Gln)
-/. - c.1089G>C r.(?) p.(Gln363His)
?/. - c.1120A>G r.(?) p.(Ser374Gly)
?/. - c.1186G>T r.(?) p.(Val396Phe)
?/. - c.*2364A>G r.(=) p.(=)
?/. - c.*2364A>G r.(=) p.(=)
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