LOVD - Variant listings for MLYCD

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?/? 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 - -
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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