Results for the protein: P11362

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
IG	smart00409	2.1e-07	40	119
IG_like	smart00410	2.1e-07	40	119
IGc2	smart00408	2.6e-14	47	108
I-set	pfam07679	9.5e-10	159	247
IG	smart00409	4.6e-13	163	248
IG_like	smart00410	4.6e-13	163	248
IGc2	smart00408	3.9e-10	170	237
I-set	pfam07679	2.3e-07	259	358
IG	smart00409	3.1e-17	262	359
IG_like	smart00410	3.1e-17	262	359
V-set	pfam07686	0.0005	264	358
IGc2	smart00408	9.2e-11	269	348
Pkinase_Tyr	pfam07714	6.7e-160	478	754
TyrKc	smart00219	6e-169	478	754
STYKc	smart00221	8.1e-70	478	756
S_TKc	smart00220	4.4e-69	488	758
KIND	smart00750	0.00066	595	764

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_069294	Disease	p.ALA671PRO	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_017887	Disease	p.ALA167SER	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030995	Disease	p.ALA520THR	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030990	Disease	p.ALA343VAL	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030970	Disease	p.ARG78CYS	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_019292	Polymorphism	p.ARG822CYS	N/A
Swiss-Prot	VAR_069291	Disease	p.ARG250GLN	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030981	Disease	p.ARG254GLN	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030999	Disease	p.ARG622GLN	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030998	Disease	p.ARG622GLY	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_069292	Disease	p.ARG470LEU	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_019290	Polymorphism	p.ARG22SER	N/A
Swiss-Prot	VAR_030980	Disease	p.ARG250TRP	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030987	Disease	p.ASN330ILE	Osteoglophonic dysplasia (OGD)
Swiss-Prot	VAR_031007	Disease	p.ASN724LYS	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030969	Polymorphism	p.ASN77LYS	N/A
Swiss-Prot	VAR_069288	Disease	p.ASN117SER	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030973	Disease	p.ASP129ALA	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030976	Disease	p.ASP224HIS	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_069959	Disease	p.ASP768TYR	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030994	Disease	p.CYS381ARG	Osteoglophonic dysplasia (OGD)
Swiss-Prot	VAR_030971	Disease	p.CYS101PHE	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030974	Disease	p.CYS178SER	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_017888	Disease	p.CYS277TYR	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030984	Disease	p.GLU274GLY	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_069958	Disease	p.GLU692GLY	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_069957	Disease	p.GLU670LYS	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_069955	Disease	p.GLY348ARG	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_031001	Disease	p.GLY687ARG	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_031003	Disease	p.GLY703ARG	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_019291	Polymorphism	p.GLY818ARG	N/A
Swiss-Prot	VAR_030977	Disease	p.GLY237ASP	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030982	Disease	p.GLY270ASP	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_017885	Disease	p.GLY97ASP	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030978	Disease	p.GLY237SER	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030968	Disease	p.GLY48SER	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_031004	Disease	p.GLY703SER	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030997	Disease	p.HIS621ARG	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_031002	Disease	p.ILE693PHE	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_069290	Disease	p.ILE239THR	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030986	Disease	p.ILE300THR	Trigonocephaly 1 (TRIGNO1)
Swiss-Prot	VAR_030996	Disease	p.ILE538VAL	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030979	Disease	p.LEU245PRO	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_069954	Disease	p.LEU342SER	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_031009	Polymorphism	p.LEU769VAL	N/A
Swiss-Prot	VAR_069293	Disease	p.LYS618ASN	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_017891	Disease	p.MET719ARG	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_004111	Disease	p.PRO252ARG	Pfeiffer syndrome (PS)
Swiss-Prot	VAR_030985	Disease	p.PRO283ARG	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_031005	Disease	p.PRO722HIS	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030992	Disease	p.PRO366LEU	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_031006	Disease	p.PRO722SER	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_031008	Disease	p.PRO745SER	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_017892	Disease	p.PRO772SER	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_042202	Polymorphism	p.PRO252THR	N/A
Swiss-Prot	VAR_069956	Disease	p.PRO483THR	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030988	Disease	p.SER332CYS	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030991	Disease	p.SER346CYS	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_042201	Polymorphism	p.SER125LEU	N/A
Swiss-Prot	VAR_031000	Disease	p.SER685PHE	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_017890	Disease	p.TRP666ARG	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030975	Polymorphism	p.TRP213GLY	N/A
Swiss-Prot	VAR_069289	Disease	p.TYR228ASP	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030989	Disease	p.TYR339CYS	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030993	Disease	p.TYR374CYS	Osteoglophonic dysplasia (OGD)
Swiss-Prot	VAR_017886	Disease	p.TYR99CYS	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_030972	Disease	p.VAL102ILE	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_031010	Disease	p.VAL795ILE	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_042203	Polymorphism	p.VAL664LEU	N/A
Swiss-Prot	VAR_030983	Disease	p.VAL273MET	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Swiss-Prot	VAR_017889	Disease	p.VAL607MET	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
OMIM	136350.0007	Disease	p.ALA134SER	HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
OMIM	136350.0025	Disease	p.ARG219GLN	HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO
OMIM	136350.0016	Disease	p.ARG439LEU	HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO
OMIM	136350.0018	Disease	p.ARG578TER	HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM	136350.0004	Disease	p.ARG591TER	HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY\|\|TO
OMIM	136350.0009	Disease	p.ASN299ILE	OSTEOGLOPHONIC DYSPLASIA
OMIM	136350.0014	Disease	p.ASN693LYS	HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO
OMIM	136350.0032	Disease	p.ASP592TYR	HARTSFIELD SYNDROME
OMIM	136350.0024	Disease	p.ASP737TYR	HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO
OMIM	136350.0010	Disease	p.CYS348ARG	OSTEOGLOPHONIC DYSPLASIA
OMIM	136350.0012	Disease	p.CYS350ARG	OSTEOGLOPHONIC DYSPLASIA
OMIM	136350.0030	Disease	p.CYS694TYR	HARTSFIELD SYNDROME
OMIM	136350.0023	Disease	p.GLN733HIS	HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA
OMIM	136350.0015	Disease	p.GLN649TER	HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA
OMIM	136350.0028	Disease	p.GLU661GLY	HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM	136350.0029	Disease	p.GLU639LYS	HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM	136350.0026	Disease	p.GLY317ARG	HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM	136350.0020	Disease	p.GLY15SER	HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA
OMIM	136350.0013	Disease	p.GLY206SER	HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY\|\|TO
OMIM	136350.0011	Disease	p.ILE269THR	TRIGONOCEPHALY 1
OMIM	136350.0031	Disease	p.LEU132SER	HARTSFIELD SYNDROME
OMIM	136350.0017	Disease	p.LEU311SER	HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM	136350.0001	Disease	p.PRO221ARG	PFEIFFER SYNDROME\|\|JACKSON-WEISS SYNDROME, INCLUDED
OMIM	136350.0014	Disease	p.PRO691HIS	HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO
OMIM	136350.0021	Disease	p.PRO335LEU	HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM	136350.0022	Disease	p.PRO691SER	HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
OMIM	136350.0027	Disease	p.PRO452THR	HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM	136350.0003	Disease	p.TRP635ARG	HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM	136350.0008	Disease	p.TYR341CYS	OSTEOGLOPHONIC DYSPLASIA
OMIM	136350.0005	Disease	p.VAL576MET	HYPOGONADOTROPIC HYPOGONADISM 2 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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