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Results 1 - 10 of 11 > >>
EC Number
Amino acid exchange
Commentary
Reference
D571N
mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency
G518E
mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency
L216R
mutation outside the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency
more
identification of naturally occuring mutations leading to multiple carboxylase deficiency, MCD, an autosomal recessive metabolic disorder caused by HLCS deficiency, overview
N511I
mutation idientified in 2-year old patient with elevated 3-hydroxyisovalerate, 3-hydroxypropanoate, 3-methylcrotonylglycine, lactate and methylcitrate levels
N570K
plus mutation c.1519+5GNA, idientified in 5-month old patient with elevated 3-hydroxyisovalerate, and 3-methylcrotonylglycine levels
R508W
mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency
R565X/G326E
mutation idientified in 18-day old patient with elevated 3-hydroxyisovalerate, 3-hydroxypropanoate, 3-methylcrotonylglycine and methylcitrate levels
R655X
mutation identified in 3-year old patient with elevated 3-hydroxybutanoate, 3-hydroxyisovalerate, 3-hydroxypropanoate, 3-methylcrotonylglycine, acetoacetate and lactate levels
V363D
mutation outside the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency
Results 1 - 10 of 11 > >>