LOVD - Variant listings for MLYCD

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?/? 01 c119T>C c119T>C - - RNA Frame Change: Unchanged ;RNA Splice Change: Unchanged;RNA Transcription Change: T2;RNA Sequence Change: Missense A.A. Substitution MLYCD_00001 Exon 119 ACCA T C GCGAG Transition n/a Direct Sequencing - - RODJO Developmental Delay, Seizures, Cardiomyopathy, [7609455], :Edinburgh DNA Direct Sequencing DNA Type: Genomic;Mutation Segregates with Phenotype: Unknown;Expression Analysis Confirms Phenotype : Yes;Normal Individuals Tested: 71-80; Sample Origin: Cell Line 1 - Male - - Yes No Yes - -
?/? 01 c.8G>A c.8G>A - - RNA Frame Change: Unchanged ;RNA Splice Change: Unchanged;RNA Transcription Change: T2;RNA Sequence Change: Missense A.A. Substitution MLYCD_00003 Exon 8 CAGCTGC G A GGCCGAC Transition MTS Direct Sequencing - - WILAD Developmental Delay, Short stature, Acidosis, [6145813], :Edinburgh DNA Direct Sequencing DNA Type: Genomic;Mutation Segregates with Phenotype: Yes;Expression Analysis Confirms Phenotype : Yes;Normal Individuals Tested: 71-80; Sample Origin: Cell Line 1 - Male - - Yes No Yes - -
?/? 01 c.59insC c.59insC r.? - RNA Frame Change: Frameshift ;RNA Splice Change: Unchanged;RNA Transcription Change: T2;RNA Sequence Change: Insertion Premature Termination MLYCD_00005 Exon 59 GCGGTTGCCCCC - C GCGGCCG Insertion n/a Direct Sequencing - - HACMA Acidosis, Hypglycaemia, Cardiomyopathy, -, :Edinburgh DNA Direct Sequencing DNA Type: Genomic;Mutation Segregates with Phenotype: Yes;Expression Analysis Confirms Phenotype : Yes;Normal Individuals Tested: 71-80; Sample Origin: Cell Line 1 - Female - - Yes Yes n/a - -
?/? 01 c.59insC c.59insC r.? - RNA Frame Change: Frameshift ;RNA Splice Change: Unchanged;RNA Transcription Change: T2;RNA Sequence Change: Insertion Premature Termination MLYCD_00007 Exon 59 GCGGTTGCCCCC - C GCGGCCG Insertion n/a Direct Sequencing - - HACCA Cardiomyopathy, -, :Edinburgh DNA Direct Sequencing DNA Type: Genomic;Mutation Segregates with Phenotype: Yes;Expression Analysis Confirms Phenotype : Yes;Normal Individuals Tested: 71-80; Sample Origin: Cell Line 1 - Female - - Yes Yes n/a - -
?/? 01 c.84-108del c.84-108del r.? - RNA Frame Change: Frameshift ;RNA Splice Change: Unchanged;RNA Transcription Change: T2;RNA Sequence Change: Deletion Premature Termination MLYCD_00004 Exon 84 GGCTGGCG - - GAGCGGGC Deletion n/a Direct Sequencing - - CELJE Developmental Delay, Seizures, Acidosis, Hypoglycaemia, Cardiomyopathy, [9177981], :Edinburgh DNA Direct Sequencing DNA Type: Genomic;Mutation Segregates with Phenotype: Yes;Expression Analysis Confirms Phenotype : Yes;Normal Individuals Tested: 71-80; Sample Origin: Cell Line 1 - Male - - Yes No n/a - -
?/? 01 c.206C>T c.206C>T - - RNA Frame Change: Unchanged ;RNA Splice Change: Unchanged;RNA Transcription Change: T2; RNA Sequence Change: Missense A.A. Substitution MLYCD_00009 Exon 206 CAGTGCG C T GGACTTC Transition n/a Direct Sequencing - - RUITA Developmental Delay, seizures, -, :Edinburgh DNA Direct Sequencing DNA Type: Genomic;Mutation Segregates with Phenotype: Yes;Expression Analysis Confirms Phenotype : Yes;Normal Individuals Tested: 71-80; Sample Origin: Cell Line 1 - Female - - Yes Unknown Yes - -
?/? 01 c.393C>G c.393C>G - - RNA Frame Change: n/a ;RNA Splice Change: n/a;RNA Transcription Change: T2; RNA Sequence Change: Nonsense Premature Termination MLYCD_00010 Exon 393 TGCGCTA C G GCGCTGG Transversion n/a Direct Sequencing - - SAYHA Unknown -, :Edinburgh DNA Direct Sequencing DNA Type: Genomic;Mutation Segregates with Phenotype: Yes;Expression Analysis Confirms Phenotype : Yes;Normal Individuals Tested: 71-80; Sample Origin: Cell Line 1 - Male - - Yes No n/a - -
?/? 01 c.473delG c.473delG r.? - RNA Frame Change: Frameshift ;RNA Splice Change: n/a;RNA Transcription Change: T2; RNA Sequence Change: Deletion Premature Termination MLYCD_00002 Exon 473 GCTGC G - GGCCG Deletion n/a Direct Sequencing - - MILJA Developmental Delay, Acidosis, Hypoglycaemia, Haan EA, et al (1986) Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defect. Eur J Pediatr 144:567-70., :Edinburgh DNA Direct Sequencing DNA Type: Genomic;Mutation Segregates with Phenotype: Yes;Expression Analysis Confirms Phenotype : Yes;Normal Individuals Tested: 71-80; Sample Origin: Cell Line 1 - Male - - Yes No n/a - -
?/? 01 c.482T>C c.482T>C - - RNA Frame Change: Unchanged ;RNA Splice Change: Unchanged;RNA Transcription Change: T2; RNA Sequence Change: Unchanged A.A. Substitution MLYCD_00012 Exon 482 GGGCCGACC T C GCTGGAGG Transition n/a Direct Sequencing - - VOGER Acidosis -, :Edinburgh DNA Direct Sequencing DNA Type: Genomic;Mutation Segregates with Phenotype: Yes;Expression Analysis Confirms Phenotype : Yes;Normal Individuals Tested: 71-80; Sample Origin: Tissue 1 - Male - - Yes Unknown Yes - -
?/? 02 c.560C>G c.560C>G - - RNA Frame Change: n/a ;RNA Splice Change: Unchanged;RNA Transcription Change: T2; RNA Sequence Change: Nonsense Premature Termination MLYCD_00013 Exon 560 AATGCTCT C G AGAATGGT Transversion n/a Direct Sequencing - - CAMSH Developmental Delay, Seizures [10417274], :Edinburgh DNA Direct Sequencing DNA Type: Genomic;Mutation Segregates with Phenotype: Yes;Expression Analysis Confirms Phenotype : Yes;Normal Individuals Tested: 71-80; Sample Origin: Cell Line 1 - Female - - Yes No n/a - -
?/? 02 c.634insA c.634insA r.? - RNA Frame Change: Frameshift ;RNA Splice Change: Unchanged;RNA Transcription Change: T2; RNA Sequence Change: Insertion Premature Termination MLYCD_00006 Exon 634 CTTCAGAAAA - A TCAGTGAGG Insertion n/a Direct Sequencing - - HACMA Acidosis, Hypglycaemia, Cardiomyopathy, -, :Edinburgh DNA Direct Sequencing DNA Type: Genomic;Mutation Segregates with Phenotype: Yes;Expression Analysis Confirms Phenotype : Yes;Normal Individuals Tested: 61-70; Sample Origin: Cell Line 1 - Female - - Yes Yes n/a - -
?/? 02 c.634insA c.634insA r.? - RNA Frame Change: Frameshift ;RNA Splice Change: Unchanged;RNA Transcription Change: T2; RNA Sequence Change: Insertion Premature Termination MLYCD_00008 Exon 634 CTTCAGAAAA - A TCAGTGAGG Insertion n/a Direct Sequencing - - HACCA Cardiomyopathy, -, :Edinburgh DNA Direct Sequencing DNA Type: Genomic;Mutation Segregates with Phenotype: Yes;Expression Analysis Confirms Phenotype : Yes;Normal Individuals Tested: 71-80; Sample Origin: Cell Line 1 - Female - - Yes Yes n/a - -
?/? 04 IVS4-14A>G IVS4-14A>G r.? - RNA Frame Change: Frameshift ;RNA Splice Change: Cryptic Site Activation;RNA Transcription Change: T2; RNA Sequence Change: Insertion Premature Termination MLYCD_00014 Intron 14 - A G - Transition n/a Direct Sequencing - - SLAJA Developmental Delay, Seizures, Hypoglycemia [10417274], :Edinburgh DNA Direct Sequencing DNA Type: Genomic;Mutation Segregates with Phenotype: Yes;Expression Analysis Confirms Phenotype : Yes;Normal Individuals Tested: 71-80; Sample Origin: Cell Line 1 - Male - - Yes No n/a - -
?/? 05 c.1151-1159del c.1151-1159del - - RNA Frame Change: Unchanged ;RNA Splice Change: Unchanged;RNA Transcription Change: T2; RNA Sequence Change: Deletion Internal Deletion MLYCD_00011 Exon 1151 AGCAGCGAGT GGGTGCAGT - CGGAGAAGC Deletion n/a Direct Sequencing - - EREHU Developmental Delay, Acidosis -, :Edinburgh DNA Direct Sequencing DNA Type: Genomic;Mutation Segregates with Phenotype: Yes;Expression Analysis Confirms Phenotype : Yes;Normal Individuals Tested: 71-80; Sample Origin: Cell Line 1 - Male - - Yes No n/a - -
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Legend: [ MLYCD full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. Legacy DNA ID: Legacy DNA ID DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein change: Variation at protein level. RNA information: RNA information Protein information: Protein Info MLYCD DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Location: Variant location at DNA level. Base number: NucleotideNumber 5' Sequence Context: 5' sequence context Original Sequence: original sequence Variant Sequence: Variant Sequence 3' Sequence Context: 3' Sequence context Type: Type of variant at DNA level. Domain: Protein Domain Detection Method: Detection Method RE Site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency of polymorphism. Patient ID: Internal patient reference Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference/Submitter: Links to PubMed ID (if available) and Submitter ID Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported Population: Patient population Gender: Patient gender Sequence Inheritance: Sequence Inheritance Phenotype Inheritance: Phenotype Inheritance Second PCR: Second PCR CIS: Other Mutation in Cis Conserved residue: Variation affects conserved base or amino acid Related Phenotype: Related Phenotype Unrelated Phenotype: Unrelated Phenotype