Results for the protein: Q8WX94

Results for the Protein: Q8WX94

24212128

199713

NLRP7

NCBI, UniProt

NALP7_HUMAN RecName: Full=NACHT, LRR and PYD domains-containing protein 7; AltName: Full=Nucleotide-binding oligomerization domain protein 12; AltName: Full=PYRIN-containing APAF1-like protein 3

Known Diseases associated with this Protein:
HYDATIDIFORM MOLE, RECURRENT, 1
HYDATIDIFORM MOLE, RECURRENT, 1 (HYDM1)

16

8

7

8

9

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Default View: NACHT - pfam05729 LRR_RI - smart00368	Swiss-Prot Protein: Q8WX94 Identical to: NP_996611 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LRR_RI	smart00368	0.00039	874	901

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs61747414	Polymorphism	p.ALA481THR	N/A
dbSNP	rs61746625	Polymorphism	p.ARG156GLN	N/A
Swiss-Prot	VAR_059037	Disease	p.ARG693GLN	Hydatidiform mole, recurrent, 1 (HYDM1)
Swiss-Prot	VAR_026711	Disease	p.ARG693PRO	Hydatidiform mole, recurrent, 1 (HYDM1)
Swiss-Prot	VAR_026712	Disease	p.ARG693TRP	Hydatidiform mole, recurrent, 1 (HYDM1)
Swiss-Prot	VAR_059039	Disease	p.ARG721TRP	Hydatidiform mole, recurrent, 1 (HYDM1)
Swiss-Prot	VAR_026713	Disease	p.ASN913SER	Hydatidiform mole, recurrent, 1 (HYDM1)
Swiss-Prot	VAR_059040	Disease	p.CYS761TYR	Hydatidiform mole, recurrent, 1 (HYDM1)
dbSNP	rs61738423	Polymorphism	p.GLU507VAL	N/A
dbSNP	rs775881	Polymorphism	p.GLY487GLU	N/A
Swiss-Prot	VAR_059035	Disease	p.LEU398ARG	Hydatidiform mole, recurrent, 1 (HYDM1)
dbSNP	rs61743949	Polymorphism	p.LYS511ARG	N/A
dbSNP	rs10418277	Polymorphism	p.LYS379ASN	N/A
Swiss-Prot	VAR_059038	Disease	p.PRO716ALA	Hydatidiform mole, recurrent, 1 (HYDM1)
Swiss-Prot	VAR_059036	Disease	p.PRO651SER	Hydatidiform mole, recurrent, 1 (HYDM1)
dbSNP	rs7256020	Polymorphism	p.THR971ALA	N/A
dbSNP	rs775882	Polymorphism	p.VAL319ILE	N/A
OMIM	609661.0008	Disease	p.ARG693GLN	HYDATIDIFORM MOLE, RECURRENT, 1
OMIM	609661.0004	Disease	p.ARG693PRO	HYDATIDIFORM MOLE, RECURRENT, 1
OMIM	609661.0006	Disease	p.ARG432TER	HYDATIDIFORM MOLE, RECURRENT, 1
OMIM	609661.0003	Disease	p.ARG693TRP	HYDATIDIFORM MOLE, RECURRENT, 1
OMIM	609661.0005	Disease	p.ASN913SER	HYDATIDIFORM MOLE, RECURRENT, 1
OMIM	609661.0009	Disease	p.LEU398ARG	HYDATIDIFORM MOLE, RECURRENT, 1
OMIM	609661.0010	Disease	p.PRO651SER	HYDATIDIFORM MOLE, RECURRENT, 1

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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