do they involve this g3235, what about this mutation, does it normal polymorphism ?
In the following link you can find the OMIM links with the mutations associated with this disease
https://en.wikipedia.org/wiki/Maple_syrup_urine_disease
Mauricio
Hi Sajedah,
Can you supply more information on which variant you mean? The number g.3235 is not specific enough. That would be a genomic position and not cDNA. What nucleotide has this become? E.g. a code like c.123C>T would be needed. Pref. together with the gene-version-number.
NB MSUD is a autosomal recessive disease, meaning that your variant should be present on both copies (homozygote) or there be a extra, independent variant (compound heterozygosity). Having contact with a genetic counselor is relevant when your question relates to a actual patient.
With regards
I think that the best way to look for clinical relevance of a mutation is the clinvar database at NCBI.
http://www.ncbi.nlm.nih.gov/clinvar/
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