Results for the protein: Q03426

Results for the Protein: Q03426

417215

4598

MVK

NCBI, UniProt

KIME_HUMAN RecName: Full=Mevalonate kinase; Short=MK

Known Diseases associated with this Protein:
  HYPER-IGD SYNDROME
  HYPER-IGD SYNDROME, INCLUDED
  HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME (HIDS)
  MEVALONIC ACIDURIA
  MEVALONIC ACIDURIA (MEVA)
  MEVALONIC ACIDURIA, INCLUDED
  MEVALONIC ACIDURIA, INCLUDED;;
  POROKERATOSIS 3, DISSEMINATED SUPERFICIAL ACTINIC TYPE
  POROKERATOSIS 3, DISSEMINATED SUPERFICIAL ACTINIC TYPE, INCLUDED

38

3

12

1

28

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Default View:	Swiss-Prot Protein: Q03426 Identical to: NP_000422, NP_001107657 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_010960	Disease	p.ALA148THR	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)
Swiss-Prot	VAR_004026	Disease	p.ALA334THR	Mevalonic aciduria (MEVA)
Swiss-Prot	VAR_010963	Disease	p.ARG215GLN	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)
Swiss-Prot	VAR_004025	Disease	p.ASN301THR	Mevalonic aciduria (MEVA)
Swiss-Prot	VAR_029521	Disease	p.GLY171ARG	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)
Swiss-Prot	VAR_010962	Disease	p.GLY202ARG	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)
Swiss-Prot	VAR_010968	Disease	p.GLY326ARG	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)
Swiss-Prot	VAR_029522	Disease	p.GLY211GLU	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)
Swiss-Prot	VAR_010967	Disease	p.GLY309SER	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)
Swiss-Prot	VAR_029525	Polymorphism	p.GLY335SER	N/A
Swiss-Prot	VAR_029527	Disease	p.GLY376VAL	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)
Swiss-Prot	VAR_010956	Disease	p.HIS20ASN	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)
Swiss-Prot	VAR_029519	Disease	p.HIS20GLN	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)
Swiss-Prot	VAR_004022	Disease	p.HIS20PRO	Mevalonic aciduria (MEVA)
Swiss-Prot	VAR_004024	Disease	p.ILE268THR	Mevalonic aciduria (MEVA)
Swiss-Prot	VAR_029524	Disease	p.LEU265ARG	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)
Swiss-Prot	VAR_010965	Disease	p.LEU264PHE	Mevalonic aciduria (MEVA)
Swiss-Prot	VAR_010966	Disease	p.LEU265PRO	Mevalonic aciduria (MEVA)
Swiss-Prot	VAR_010957	Disease	p.LEU39PRO	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)
Swiss-Prot	VAR_004023	Disease	p.PRO167LEU	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)
dbSNP	rs7957619	Polymorphism	p.SER52ASN	N/A
Swiss-Prot	VAR_010959	Disease	p.SER135LEU	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)
Swiss-Prot	VAR_010961	Disease	p.SER150LEU	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)
Swiss-Prot	VAR_010964	Disease	p.THR243ILE	Mevalonic aciduria (MEVA)
Swiss-Prot	VAR_029526	Polymorphism	p.THR356MET	N/A
Swiss-Prot	VAR_029520	Disease	p.VAL132ILE	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)
Swiss-Prot	VAR_029523	Disease	p.VAL250ILE	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)
Swiss-Prot	VAR_004027	Disease	p.VAL377ILE	Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)
Swiss-Prot	VAR_009068	Disease	p.VAL310MET	Mevalonic aciduria (MEVA)
OMIM	251170.0006	Disease	p.ALA334THR	MEVALONIC ACIDURIA\|\|HYPER-IgD SYNDROME, INCLUDED
OMIM	251170.0001	Disease	p.ASN301THR	MEVALONIC ACIDURIA
OMIM	251170.0010	Disease	p.GLY202ARG	HYPER-IgD SYNDROME\|\|MEVALONIC ACIDURIA, INCLUDED;;\|\|POROKERATOSIS 3, DISSEMINATED SUPERFICIAL ACTINIC TYPE, INCLUDED
OMIM	251170.0003	Disease	p.HIS20PRO	HYPER-IgD SYNDROME\|\|MEVALONIC ACIDURIA, INCLUDED
OMIM	251170.0004	Disease	p.ILE268THR	HYPER-IgD SYNDROME\|\|MEVALONIC ACIDURIA, INCLUDED
OMIM	251170.0009	Disease	p.LEU255PRO	POROKERATOSIS 3, DISSEMINATED SUPERFICIAL ACTINIC TYPE
OMIM	251170.0013	Disease	p.LEU41PRO	POROKERATOSIS 3, DISSEMINATED SUPERFICIAL ACTINIC TYPE
OMIM	251170.0015	Disease	p.PHE364SER	POROKERATOSIS 3, DISSEMINATED SUPERFICIAL ACTINIC TYPE
OMIM	251170.0005	Disease	p.PRO165LEU	HYPER-IgD SYNDROME
OMIM	251170.0011	Disease	p.PRO167LEU	HYPER-IgD SYNDROME
OMIM	251170.0002	Disease	p.VAL377ILE	HYPER-IgD SYNDROME
OMIM	251170.0007	Disease	p.VAL310MET	MEVALONIC ACIDURIA

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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