EC Number   |
Protein Variants |
Reference |
|---|
    2.7.1.36 | A141C |
significantly higher thermal activity than wild-type |
691055 |
| 2.7.1.36 | A148T |
mutation may be responsible for the hyperimmunoglobulinemia phenotype |
641453 |
| 2.7.1.36 | C107A |
decrease in temperature stability, slight increase in Km value for ATP |
691055 |
| 2.7.1.36 | C107S |
decrease in temperature stability, slight increase in Km value for ATP |
691055 |
| 2.7.1.36 | C107S/C281S |
decrease in temperature stability, slight increase in Km value for ATP |
691055 |
| 2.7.1.36 | C152Y |
identification of a mevalonate kinase heterozygous missense point mutation in exon 5 (c.455:G[A]), resulting in the substitution of tyrosine for cysteine (p.C152Y) in a predicted functional domain of the MVK enzyme. The patient shows disseminated superficial actinic porokeratosis (DSAP), which is a genodermatosis with autosomal dominant inheritance and near-complete penetrance clinically featuring uniform 3- to 7-mm annular lesions with scaly borders on sun-exposed face and extremities. The hyperkeratotic rim correlates histopathologically with the presence of a cornoid lamella. Phenotype, overview |
759694 |
| 2.7.1.36 | C197A/C281A |
decrease in temperature stability, slight increase in Km value for ATP |
691055 |
| 2.7.1.36 | C281A |
decrease in temperature stability, slight increase in Km value for ATP |
691055 |
| 2.7.1.36 | C281S |
decrease in temperature stability, slight increase in Km value for ATP |
691055 |
| 2.7.1.36 | D204A |
stable, with 40000fold diminution in kcat. Mutant is able to bind a spin-labeled ATP analogue with stoichiometries and equilibrium binding constants comparable to wild-type |
698708 |
