EC Number |
Protein Variants |
Reference |
---|
6.3.4.10 | D571N |
mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency |
1392 |
6.3.4.10 | G518E |
mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency |
1392 |
6.3.4.10 | L216R |
mutation outside the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency |
1392 |
6.3.4.10 | more |
identification of naturally occuring mutations leading to multiple carboxylase deficiency, MCD, an autosomal recessive metabolic disorder caused by HLCS deficiency, overview |
703282 |
6.3.4.10 | N511I |
mutation idientified in 2-year old patient with elevated 3-hydroxyisovalerate, 3-hydroxypropanoate, 3-methylcrotonylglycine, lactate and methylcitrate levels |
745784 |
6.3.4.10 | N570K |
plus mutation c.1519+5GNA, idientified in 5-month old patient with elevated 3-hydroxyisovalerate, and 3-methylcrotonylglycine levels |
745784 |
6.3.4.10 | R508W |
mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency |
1392 |
6.3.4.10 | R565X/G326E |
mutation idientified in 18-day old patient with elevated 3-hydroxyisovalerate, 3-hydroxypropanoate, 3-methylcrotonylglycine and methylcitrate levels |
745784 |
6.3.4.10 | R655X |
mutation identified in 3-year old patient with elevated 3-hydroxybutanoate, 3-hydroxyisovalerate, 3-hydroxypropanoate, 3-methylcrotonylglycine, acetoacetate and lactate levels |
745784 |
6.3.4.10 | V363D |
mutation outside the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency |
1392 |