Results for the protein: P21802

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
IG_like	smart00410	5.5e-10	47	125
IGc2	smart00408	1.7e-15	54	114
I-set	pfam07679	2.4e-09	160	248
IG	smart00409	1.5e-14	164	249
IG_like	smart00410	1.5e-14	164	249
IGc2	smart00408	2.3e-14	171	238
I-set	pfam07679	6.8e-06	260	359
IG	smart00409	1.1e-16	263	360
IG_like	smart00410	1.1e-16	263	360
V-set	pfam07686	0.00025	265	359
IGc2	smart00408	4.4e-08	270	349
Pkinase_Tyr	pfam07714	4e-160	481	757
TyrKc	smart00219	3.7e-160	481	757
STYKc	smart00221	4.8e-62	481	759
S_TKc	smart00220	8.7e-58	491	761
KIND	smart00750	0.00063	598	767

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_004140	Disease	p.ALA344GLY	Jackson-Weiss syndrome (JWS)
Swiss-Prot	VAR_017259	Disease	p.ALA172PHE	Pfeiffer syndrome (PS)
Swiss-Prot	VAR_017268	Disease	p.ALA337PRO	Crouzon syndrome (CS)
Swiss-Prot	VAR_004141	Disease	p.ALA344PRO	Pfeiffer syndrome (PS)
Swiss-Prot	VAR_004128	Polymorphism	p.ALA314SER	N/A
Swiss-Prot	VAR_017267	Polymorphism	p.ALA315SER	N/A
Swiss-Prot	VAR_017273	Disease	p.ALA362SER	Crouzon syndrome (CS)
Swiss-Prot	VAR_029884	Disease	p.ALA628THR	Lacrimo-auriculo-dento-digital syndrome (LADDS)
Swiss-Prot	VAR_029885	Disease	p.ALA648THR	Lacrimo-auriculo-dento-digital syndrome (LADDS)
Swiss-Prot	VAR_036380	Polymorphism	p.ARG203CYS	N/A
Swiss-Prot	VAR_017281	Disease	p.ARG678GLY	Crouzon syndrome (CS)
Swiss-Prot	VAR_017258	Polymorphism	p.ARG6PRO	N/A
Swiss-Prot	VAR_046071	Polymorphism	p.ARG612THR	N/A
Swiss-Prot	VAR_017276	Disease	p.ASN549HIS	Crouzon syndrome (CS)
Swiss-Prot	VAR_004131	Disease	p.ASN331ILE	Crouzon syndrome (CS)
Swiss-Prot	VAR_004129	Disease	p.ASP321ALA	Pfeiffer syndrome (PS)
Swiss-Prot	VAR_042206	Polymorphism	p.ASP283ASN	N/A
Swiss-Prot	VAR_004137	Disease	p.CYS342ARG	Pfeiffer syndrome (PS)
Swiss-Prot	VAR_017270	Disease	p.CYS342GLY	Pfeiffer syndrome (PS)
Swiss-Prot	VAR_004121	Disease	p.CYS278PHE	Pfeiffer syndrome (PS)
Swiss-Prot	VAR_004136	Disease	p.CYS342PHE	Crouzon syndrome (CS)
Swiss-Prot	VAR_004138	Disease	p.CYS342SER	Pfeiffer syndrome (PS)
Swiss-Prot	VAR_017271	Disease	p.CYS342TRP	Crouzon syndrome (CS)
Swiss-Prot	VAR_017263	Disease	p.CYS278TYR	Crouzon syndrome (CS)
Swiss-Prot	VAR_004139	Disease	p.CYS342TYR	Pfeiffer syndrome (PS)
Swiss-Prot	VAR_004123	Disease	p.GLN289PRO	Jackson-Weiss syndrome (JWS)
Swiss-Prot	VAR_017277	Disease	p.GLU565GLY	Pfeiffer syndrome (PS)
Swiss-Prot	VAR_015011	Disease	p.GLY338ARG	Crouzon syndrome (CS)
Swiss-Prot	VAR_004147	Disease	p.GLY384ARG	Crouzon syndrome (CS)
Swiss-Prot	VAR_015012	Polymorphism	p.GLY613ARG	N/A
Swiss-Prot	VAR_004133	Disease	p.GLY338GLU	Crouzon syndrome (CS)
Swiss-Prot	VAR_017280	Disease	p.GLY663GLU	Pfeiffer syndrome (PS)
Swiss-Prot	VAR_042205	Polymorphism	p.GLY272VAL	N/A
Swiss-Prot	VAR_017265	Disease	p.ILE288SER	Crouzon syndrome (CS)
Swiss-Prot	VAR_017278	Disease	p.LYS641ARG	Pfeiffer syndrome (PS)
Swiss-Prot	VAR_017279	Polymorphism	p.LYS659ASN	N/A
Swiss-Prot	VAR_004126	Disease	p.LYS292GLU	Crouzon syndrome (CS)
Swiss-Prot	VAR_023788	Disease	p.LYS526GLU	Familial scaphocephaly syndrome (FSPC)
Swiss-Prot	VAR_067978	Disease	p.MET391ARG	Bent bone dysplasia syndrome (BBDS)
dbSNP	rs755793	Polymorphism	p.MET186THR	N/A
Swiss-Prot	VAR_004120	Disease	p.PHE276VAL	Crouzon syndrome (CS)
Swiss-Prot	VAR_004117	Disease	p.PRO253ARG	Apert syndrome (APRS)
Swiss-Prot	VAR_017261	Disease	p.PRO263LEU	Crouzon syndrome (CS)
Swiss-Prot	VAR_004142	Disease	p.SER347CYS	Crouzon syndrome (CS)
Swiss-Prot	VAR_004143	Disease	p.SER351CYS	Pfeiffer syndrome (PS)
Swiss-Prot	VAR_004144	Disease	p.SER354CYS	Crouzon syndrome (CS)
Swiss-Prot	VAR_017274	Disease	p.SER372CYS	Beare-Stevenson cutis gyrata syndrome (BSTVS)
Swiss-Prot	VAR_004113	Disease	p.SER252LEU	Crouzon syndrome (CS)
Swiss-Prot	VAR_042204	Polymorphism	p.SER57LEU	N/A
Swiss-Prot	VAR_004114	Disease	p.SER252PHE	Apert syndrome (APRS)
Swiss-Prot	VAR_004118	Disease	p.SER267PRO	Crouzon syndrome (CS)
Swiss-Prot	VAR_004115	Disease	p.SER252TRP	Pfeiffer syndrome (PS)
Swiss-Prot	VAR_017272	Disease	p.SER354TYR	Crouzon syndrome (CS)
Swiss-Prot	VAR_004135	Disease	p.THR341PRO	Pfeiffer syndrome (PS)
Swiss-Prot	VAR_004125	Disease	p.TRP290ARG	Crouzon syndrome (CS)
Swiss-Prot	VAR_004124	Disease	p.TRP290CYS	Pfeiffer syndrome (PS)
Swiss-Prot	VAR_017266	Disease	p.TRP290GLY	Crouzon syndrome (CS)
Swiss-Prot	VAR_067977	Disease	p.TYR381ASP	Bent bone dysplasia syndrome (BBDS)
Swiss-Prot	VAR_004112	Disease	p.TYR105CYS	Crouzon syndrome (CS)
Swiss-Prot	VAR_017264	Disease	p.TYR281CYS	Crouzon syndrome (CS)
Swiss-Prot	VAR_004127	Disease	p.TYR301CYS	Crouzon syndrome (CS)
Swiss-Prot	VAR_004130	Disease	p.TYR328CYS	Crouzon syndrome (CS)
Swiss-Prot	VAR_017269	Disease	p.TYR340CYS	Pfeiffer syndrome (PS)
Swiss-Prot	VAR_017275	Disease	p.TYR375CYS	Pfeiffer syndrome (PS)
Swiss-Prot	VAR_004134	Disease	p.TYR340HIS	Crouzon syndrome (CS)
Swiss-Prot	VAR_004146	Disease	p.VAL359PHE	Pfeiffer syndrome (PS)
OMIM	176943.0006	Disease	p.ALA1ALA	CROUZON SYNDROME\|\|CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT, INCLUDED;;\|\|SCAPHOCEPHALY AND AXENFELD-RIEGER AN
OMIM	176943.0007	Disease	p.ALA1GLY	JACKSON-WEISS SYNDROME\|\|CROUZON SYNDROME, INCLUDED
OMIM	176943.0041	Disease	p.ALA1PRO	CROUZON SYNDROME
OMIM	176943.0028	Disease	p.ALA1SER	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL
OMIM	176943.0042	Disease	p.ALA1THR	VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	176943.0037	Disease	p.ALA627THR	LADD SYNDROME
OMIM	176943.0035	Disease	p.ALA647THR	LADD SYNDROME
OMIM	176943.0039	Disease	p.ASP1ALA	PFEIFFER SYNDROME
OMIM	176943.0002	Disease	p.CYS1ARG	CROUZON SYNDROME\|\|PFEIFFER SYNDROME, INCLUDED;;\|\|JACKSON-WEISS SYNDROME, INCLUDED;;\|\|ANTLEY-BIXLER SYNDROME WITHOUT GENI
OMIM	176943.0003 176943.0005 176943.0009 176943.0024	Disease	p.CYS1SER	PFEIFFER SYNDROME, TYPE III\|\|ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS,\|\|INCLUDED
OMIM	176943.0013	Disease	p.CYS1TRP	CROUZON SYNDROME
OMIM	176943.0001 176943.0008	Disease	p.CYS1TYR	CROUZON SYNDROME
OMIM	176943.0014	Disease	p.GLN289PRO	CROUZON SYNDROME\|\|JACKSON-WEISS SYNDROME, INCLUDED
OMIM	176943.0033	Disease	p.GLU564ALA	PFEIFFER SYNDROME
OMIM	176943.0020	Disease	p.LYS292GLU	CROUZON SYNDROME
OMIM	176943.0034	Disease	p.LYS525GLU	CROUZON SYNDROME\|\|SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION, INCLUDED
OMIM	176943.0043	Disease	p.MET390ARG	BENT BONE DYSPLASIA SYNDROME
OMIM	176943.0011	Disease	p.PRO253ARG	APERT SYNDROME
OMIM	176943.0018	Disease	p.PRO253SER	PFEIFFER SYNDROME VARIANT
OMIM	176943.0016	Disease	p.SER371CYS	BEARE-STEVENSON CUTIS GYRATA SYNDROME
OMIM	176943.0017 176943.0018	Disease	p.SER252PHE	PFEIFFER SYNDROME VARIANT
OMIM	176943.0029	Disease	p.SER267PRO	PFEIFFER SYNDROME\|\|GASTRIC CANCER, SOMATIC, INCLUDED
OMIM	176943.0010	Disease	p.SER252TRP	APERT SYNDROME\|\|ENDOMETRIAL CANCER, SOMATIC, INCLUDED
OMIM	176943.0012	Disease	p.THR1PRO	PFEIFFER SYNDROME
OMIM	176943.0021	Disease	p.TRP290ARG	CROUZON SYNDROME
OMIM	176943.0019	Disease	p.TRP290CYS	PFEIFFER SYNDROME
OMIM	176943.0022	Disease	p.TRP290GLY	CROUZON SYNDROME
OMIM	176943.0044	Disease	p.TYR380ASP	BENT BONE DYSPLASIA SYNDROME
OMIM	176943.0015	Disease	p.TYR374CYS	BEARE-STEVENSON CUTIS GYRATA SYNDROME\|\|ENDOMETRIAL CANCER, SOMATIC, INCLUDED
OMIM	176943.0004	Disease	p.TYR1HIS	CROUZON SYNDROME

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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