Results for the protein: Q9NZU0

Results for the Protein: Q9NZU0

20138400

23767

FLRT3

NCBI, UniProt

FLRT3_HUMAN RecName: Full=Leucine-rich repeat transmembrane protein FLRT3; AltName: Full=Fibronectin-like domain-containing leucine-rich transmembrane protein 3; Flags: Precursor

Known Diseases associated with this Protein:
  HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA
  HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO
  HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA (HH21)

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Default View: LRRNT - pfam01462 LRRNT - smart00013 LRR - smart00370 LRR_TYP - smart00369 LRRCT - smart00082	Swiss-Prot Protein: Q9NZU0 Identical to: NP_037413, NP_938205 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LRRNT	smart00013	6.7e-06	30	62
LRR_TYP	smart00369	3.3e-05	270	293
LRR	smart00370	3.3e-05	270	293
LRRCT	smart00082	4.4e-12	305	356

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs8120693	Polymorphism	p.ALA377THR	N/A
Swiss-Prot	VAR_069950	Disease	p.GLN69LYS	Hypogonadotropic hypogonadism 21 with or without anosmia (HH21)
dbSNP	rs35253731	Polymorphism	p.GLU460ASP	N/A
Swiss-Prot	VAR_069951	Disease	p.GLU97GLY	Hypogonadotropic hypogonadism 21 with or without anosmia (HH21)
dbSNP	rs6079391	Polymorphism	p.HIS400GLN	N/A
Swiss-Prot	VAR_064714	Polymorphism	p.ILE452VAL	N/A
Swiss-Prot	VAR_069953	Disease	p.LYS339ARG	Hypogonadotropic hypogonadism 21 with or without anosmia (HH21)
Swiss-Prot	VAR_069952	Disease	p.SER144ILE	Hypogonadotropic hypogonadism 21 with or without anosmia (HH21)
OMIM	604808.0003	Disease	p.GLN69LYS	HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM	604808.0001	Disease	p.GLU97GLY	HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM	604808.0004	Disease	p.LYS339ARG	HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA
OMIM	604808.0002	Disease	p.SER144ILE	HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO

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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