Results for the protein: Q03692

Results for the Protein: Q03692

2506306

1300

COL10A1

NCBI, UniProt

COAA1_HUMAN RecName: Full=Collagen alpha-1(X) chain; Flags: Precursor

Known Diseases associated with this Protein:
METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA (SMCD)

33

5

15

2

21

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Default View: C1Q - smart00110	Swiss-Prot Protein: Q03692 Identical to: NP_000484 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 ↕
Swiss-Prot	VAR_023187	Polymorphism	p.ARG198HIS	N/A
Swiss-Prot	VAR_001847	Disease	p.ASN617LYS	Schmid type metaphyseal chondrodysplasia (SMCD)
Swiss-Prot	VAR_001850	Disease	p.ASP648GLY	Schmid type metaphyseal chondrodysplasia (SMCD)
Swiss-Prot	VAR_001841	Disease	p.CYS591ARG	Schmid type metaphyseal chondrodysplasia (SMCD)
Swiss-Prot	VAR_023192	Disease	p.GLN653PRO	Schmid type metaphyseal chondrodysplasia (SMCD)
Swiss-Prot	VAR_001839	Disease	p.GLY18ARG	Schmid type metaphyseal chondrodysplasia (SMCD)
dbSNP	rs2228547	Polymorphism	p.GLY545ARG	N/A
Swiss-Prot	VAR_023189	Disease	p.GLY595ARG	Schmid type metaphyseal chondrodysplasia (SMCD)
Swiss-Prot	VAR_048767	Polymorphism	p.GLY98ARG	N/A
Swiss-Prot	VAR_001838	Disease	p.GLY18GLU	Schmid type metaphyseal chondrodysplasia (SMCD)
Swiss-Prot	VAR_001842	Disease	p.GLY595GLU	Schmid type metaphyseal chondrodysplasia (SMCD)
Swiss-Prot	VAR_001848	Disease	p.GLY618VAL	Schmid type metaphyseal chondrodysplasia (SMCD)
Swiss-Prot	VAR_001849	Disease	p.LEU644ARG	Schmid type metaphyseal chondrodysplasia (SMCD)
Swiss-Prot	VAR_001846	Disease	p.LEU614PRO	Schmid type metaphyseal chondrodysplasia (SMCD)
dbSNP	rs1064583	Polymorphism	p.MET27THR	N/A
Swiss-Prot	VAR_001845	Disease	p.SER600PRO	Schmid type metaphyseal chondrodysplasia (SMCD)
Swiss-Prot	VAR_023193	Disease	p.SER671PRO	Schmid type metaphyseal chondrodysplasia (SMCD)
Swiss-Prot	VAR_023191	Disease	p.TRP651ARG	Schmid type metaphyseal chondrodysplasia (SMCD)
Swiss-Prot	VAR_023188	Disease	p.TYR582ASP	Schmid type metaphyseal chondrodysplasia (SMCD)
Swiss-Prot	VAR_001844	Disease	p.TYR598ASP	Schmid type metaphyseal chondrodysplasia (SMCD)
Swiss-Prot	VAR_008039	Disease	p.TYR597CYS	Schmid type metaphyseal chondrodysplasia (SMCD)
Swiss-Prot	VAR_001843	Disease	p.TYR597HIS	Schmid type metaphyseal chondrodysplasia (SMCD)
Swiss-Prot	VAR_023190	Polymorphism	p.VAL603MET	N/A
OMIM	120110.0004	Disease	p.CYS591ARG	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
OMIM	120110.0012	Disease	p.GLY18ARG	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
OMIM	120110.0013	Disease	p.GLY18GLU	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
OMIM	120110.0016	Disease	p.GLY595GLU	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
OMIM	120110.0003	Disease	p.LEU614PRO	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
OMIM	120110.0018	Disease	p.SER600PRO	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
OMIM	120110.0014	Disease	p.SER671PRO	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
OMIM	120110.0011	Disease	p.TRP651ARG	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
OMIM	120110.0019	Disease	p.TRP611TER	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
OMIM	120110.0010	Disease	p.TRP651TER	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
OMIM	120110.0002	Disease	p.TYR598ASP	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
OMIM	120110.0017	Disease	p.TYR597CYS	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
OMIM	120110.0009	Disease	p.TYR628TER	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
OMIM	120110.0015	Disease	p.TYR632TER	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
OMIM	120110.0020	Disease	p.TYR663TER	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE

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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