Cbl C defect
SupplementaryTable 3 Summary of mutations of MMACHC in combination
Mutation / Predicted amino acid changeAllele 1 / Allele 2 / Allele 1 / Allele 2 / Infantile onset / Late onset
c.3G>A / c.481C>T / p.Met1? / p.Arg161* / 1
c.122dupT / c.122dupT / p.Pro42Thrfs*19 / p.Pro42Thrfs*19 / 1
c.217C>T / c.217C>T / p.Arg73* / p.Arg73* / 2
c.217C>T / c.481C>T / p.Arg73* / p.Arg161* / 1
c.271dupA / c.3G>A / p.Arg91Lysfs*14 / p.Met1? / 3
c.271dupA / c.82-9_12delTTTC / p.Arg91Lysfs*14 / [r.spl? / 1
c.271dup A / c.271dup A / p.Arg91Lysfs*14 / p.Arg91Lysfs*14 / 22 / 1
c.271dupA / c.217C>T / p.Arg91Lysfs*14 / p.Arg73* / 1
c.271dupA / c.271dupA+c.792_818del27 / p.Arg91Lysfs*14 / p.Arg91Lysfs*14 + p.Ser264_Pro272del / 1
c.271dup A / ? / p.Arg91Lysfs*14 / ? / 2
c.271dupA / c.331C>T / p.Arg91Lysfs*14 / p.Arg111* / 2
c.271dupA / c.347T>C / p.Arg91Lysfs*14 / p.Leu116Pro / 1
c.271.dupA / c.394C>T / p.Arg91Lysfs*14 / p.Arg132* / 6 / 1
c.271dupA / c.457C>T / p.Arg91Lysfs*14 / p.Arg153* / 2
c.271dupA / c.468_469delCT / p.Arg91Lysfs*14 / p.Trp157Valfs*24 / 1
c.271dupA / c.481C>T / p.Arg91Lysfs*14 / p.Arg161* / 1
c.271dupA/c.565C>A / c.565C>A / p.Arg91Lysfs*14 / p.Arg189Ser / 1
c.271dupA / c.565delC / p.Arg91Lysfs*14 / p.Arg189Valfs*21 / 1
c.271dupA / c.600G>A / p.Arg91Lysfs*14 / p.Trp200* / 1
c.271dupA / c.616C>T / p.Arg91Lysfs*14 / p.Arg206Trp / 1
c.271dupA / none detected / p.Arg91Lysfs*14 / - / 1
c.331C>T / c.14_24del / p.Arg111* / p.Val5Glufs*25 / 1
c.331C>T / c.331C>T / p.Arg111* / p.Arg111* / 2
c.331C>T / c.457C>T / p.Arg111* / p.Arg153* / 1
c.394C>T / c.126_141del / p.Arg132* / p.Leu43Trpfs*28 / 1
c.394C>T / c.394C>T / p.Arg132* / p.Arg132* / 6 / 4
c.394C>T / c.468_469delCT / p.Arg132* / p.Trp157Valfs*24 / 1
c.394C>T / c.666C>A / p.Arg132* / p.Tyr222* / 1
c.616c>T / c.616C>T / p.Arg206Trp / p.Arg206Trp / 1
c.666C>A / c.666C>A / p.Tyr222* / p.Tyr222* / 1
64 / 10
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