Results for the protein: Q14993

Results for the Protein: Q14993

68840003

1310

COL19A1

NCBI, UniProt

COJA1_HUMAN RecName: Full=Collagen alpha-1(XIX) chain; AltName: Full=Collagen alpha-1(Y) chain; Flags: Precursor

			0 6 0 2 4

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Default View: TSPN - smart00210 Collagen - pfam01391	Swiss-Prot Protein: Q14993 Identical to: NP_001849 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Collagen	pfam01391	1.1e-10	355	414
Collagen	pfam01391	9.2e-10	415	497
Collagen	pfam01391	1.2e-13	504	563
Collagen	pfam01391	4.9e-11	568	626
Collagen	pfam01391	8.9e-10	628	682
Collagen	pfam01391	1.3e-12	735	794
Collagen	pfam01391	1.5e-10	795	877
Collagen	pfam01391	9.1e-13	878	937
Collagen	pfam01391	3.5e-13	944	1003
Collagen	pfam01391	2.6e-10	1054	1120
TSPN	smart00210	7.3e-78	50	234

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2273426	Polymorphism	p.ALA352GLY	N/A
Swiss-Prot	VAR_048783	Polymorphism	p.GLU496GLY	N/A
Swiss-Prot	VAR_035746	Polymorphism	p.GLY361ASP	N/A
Swiss-Prot	VAR_048782	Polymorphism	p.GLY406GLU	N/A
Swiss-Prot	VAR_035747	Polymorphism	p.LYS1019ASN	N/A
dbSNP	rs61743753	Polymorphism	p.PRO793ALA	N/A

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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