Results for the protein: Q07617

Results for the Protein: Q07617

223634718

6674

SPAG1

NCBI, UniProt

SPAG1_HUMAN RecName: Full=Sperm-associated antigen 1; AltName: Full=HSD-3.8; AltName: Full=Infertility-related sperm protein Spag-1

Known Diseases associated with this Protein:
CILIARY DYSKINESIA, PRIMARY, 28, WITH SITUS INVERSUS
CILIARY DYSKINESIA, PRIMARY, 28, WITHOUT SITUS INVERSUS

2

3

2

3

0

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Default View: NrfG - COG0457 TPR - cd00189 TPR - smart00028 TPR_1 - pfam00515 TPR_2 - pfam07719	Swiss-Prot Protein: Q07617 Identical to: NP_003105, NP_757367 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
TPR	cd00189	1.2e-22	210	308
NrfG	COG0457	3e-13	397	754
TPR	cd00189	5.8e-11	446	553
TPR	cd00189	1.2e-19	624	723
TPR_1	pfam00515	3.6e-06	276	309
TPR_1	pfam00515	0.00021	487	520
TPR_1	pfam00515	7.5e-07	657	690
TPR_1	pfam00515	1.2e-05	691	724
TPR	smart00028	1.6e-05	276	309
TPR	smart00028	5.3e-06	487	520
TPR_2	pfam07719	1.2e-05	657	690
TPR	smart00028	1.5e-07	657	690
TPR_2	pfam07719	0.00063	691	724
TPR	smart00028	1.6e-05	691	724

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs17335870	Polymorphism	p.GLU331LYS	N/A
dbSNP	rs6510	Polymorphism	p.HIS827TYR	N/A
dbSNP	rs6511	Polymorphism	p.MET777THR	N/A
OMIM	603395.0004	Disease	p.GLN672TER	CILIARY DYSKINESIA, PRIMARY, 28, WITH SITUS INVERSUS
OMIM	603395.0003	Disease	p.GLU227TER	CILIARY DYSKINESIA, PRIMARY, 28, WITHOUT SITUS INVERSUS

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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