Results for the protein: Q01974

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
IG_like	smart00410	1.2e-16	68	153
IG	smart00409	1.2e-16	68	153
V-set	pfam07686	2.3e-05	70	152
IGc2	smart00408	2.5e-17	75	142
KR	smart00130	1.9e-48	314	396
Pkinase_Tyr	pfam07714	4.3e-136	473	746
TyrKc	smart00219	8e-116	473	746
STYKc	smart00221	5.2e-36	473	748
S_TKc	smart00220	2.5e-23	483	750

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_010768	Disease	p.ARG184CYS	Robinow syndrome autosomal recessive (RRS)
Swiss-Prot	VAR_041797	Polymorphism	p.ARG738CYS	N/A
Swiss-Prot	VAR_041787	Polymorphism	p.ARG244GLN	N/A
Swiss-Prot	VAR_041790	Polymorphism	p.ARG530GLN	N/A
Swiss-Prot	VAR_010769	Disease	p.ARG189TRP	Robinow syndrome autosomal recessive (RRS)
Swiss-Prot	VAR_010770	Disease	p.ARG366TRP	Robinow syndrome autosomal recessive (RRS)
Swiss-Prot	VAR_010771	Disease	p.ASN620LYS	Robinow syndrome autosomal recessive (RRS)
Swiss-Prot	VAR_041794	Polymorphism	p.ASP644ASN	N/A
Swiss-Prot	VAR_041795	Polymorphism	p.ASP672ASN	N/A
Swiss-Prot	VAR_041799	Polymorphism	p.ASP935GLU	N/A
Swiss-Prot	VAR_010911	Disease	p.CYS182TYR	Robinow syndrome autosomal recessive (RRS)
Swiss-Prot	VAR_041789	Polymorphism	p.GLY490ALA	N/A
dbSNP	rs34431454	Polymorphism	p.GLY695ARG	N/A
dbSNP	rs55983376	Polymorphism	p.HIS349ASP	N/A
dbSNP	rs35764413	Polymorphism	p.PRO548SER	N/A
Swiss-Prot	VAR_041793	Polymorphism	p.SER557LEU	N/A
Swiss-Prot	VAR_041798	Polymorphism	p.SER762LEU	N/A
dbSNP	rs10820900	Polymorphism	p.THR245ALA	N/A
dbSNP	rs10761129	Polymorphism	p.VAL819ILE	N/A
Swiss-Prot	VAR_041791	Polymorphism	p.VAL542MET	N/A
OMIM	602337.0005	Disease	p.ARG184CYS	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE
OMIM	602337.0011	Disease	p.ARG119TER	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE
OMIM	602337.0007	Disease	p.ARG205TER	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE
OMIM	602337.0015	Disease	p.ARG441TER	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY
OMIM	602337.0004	Disease	p.GLN502TER	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE
OMIM	602337.0006	Disease	p.TRP720TER	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE
OMIM	602337.0002	Disease	p.TRP749TER	BRACHYDACTYLY, TYPE B1
OMIM	602337.0001	Disease	p.TYR755TER	BRACHYDACTYLY, TYPE B1

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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