Results for the protein: Q9BV36

Results for the Protein: Q9BV36

32129730

79083

MLPH

NCBI, UniProt

MELPH_HUMAN RecName: Full=Melanophilin; AltName: Full=Exophilin-3; AltName: Full=Slp homolog lacking C2 domains a; Short=SlaC2-a; AltName: Full=Synaptotagmin-like protein 2a

Known Diseases associated with this Protein:
GRISCELLI SYNDROME 3 (GS3)
GRISCELLI SYNDROME, TYPE 3

2

10

1

9

2

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Default View:	Swiss-Prot Protein: Q9BV36 Identical to: NP_077006 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 ↕
dbSNP	rs61737681	Polymorphism	p.ALA408PRO	N/A
dbSNP	rs2292880	Polymorphism	p.ARG139TRP	N/A
Swiss-Prot	VAR_018724	Disease	p.ARG35TRP	Griscelli syndrome 3 (GS3)
Swiss-Prot	VAR_015692	Polymorphism	p.ASP163ASN	N/A
dbSNP	rs2271809	Polymorphism	p.GLU407ASP	N/A
dbSNP	rs3751107	Polymorphism	p.GLY172ASP	N/A
dbSNP	rs2292884	Polymorphism	p.HIS347ARG	N/A
dbSNP	rs3751109	Polymorphism	p.LEU153PRO	N/A
dbSNP	rs58256353	Polymorphism	p.PRO451SER	N/A
dbSNP	rs11883500	Polymorphism	p.THR289ILE	N/A
dbSNP	rs3817362	Polymorphism	p.VAL374ALA	N/A
OMIM	606526.0001	Disease	p.ARG35TRP	GRISCELLI SYNDROME, TYPE 3

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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