Results for the protein: Q9Y4W6

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
HflB	COG0465	2.1e-276	147	753
RPT1	COG1222	3.7e-59	186	566
COG1223	COG1223	1.4e-20	205	564
AAA	cd00009	1e-37	314	477
AAA	pfam00004	1.1e-66	344	477
Peptidase_M41	pfam01434	1.2e-96	561	744
FtsH_ext	pfam06480	1.2e-09	148	242
AAA_2	pfam07724	2.6e-05	340	471
AAA	smart00382	1.3e-24	340	479
AAA_5	pfam07728	0.00079	343	469

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_063546	Disease	p.ALA694GLU	Spinocerebellar ataxia 28 (SCA28)
Swiss-Prot	VAR_063547	Disease	p.ARG702GLN	Spinocerebellar ataxia 28 (SCA28)
Swiss-Prot	VAR_063544	Disease	p.ASN432THR	Spinocerebellar ataxia 28 (SCA28)
Swiss-Prot	VAR_063545	Disease	p.GLU691LYS	Spinocerebellar ataxia 28 (SCA28)
Swiss-Prot	VAR_064408	Disease	p.GLU700LYS	Spinocerebellar ataxia 28 (SCA28)
Swiss-Prot	VAR_064407	Disease	p.GLY671ARG	Spinocerebellar ataxia 28 (SCA28)
Swiss-Prot	VAR_064406	Disease	p.GLY671GLU	Spinocerebellar ataxia 28 (SCA28)
Swiss-Prot	VAR_064403	Disease	p.MET666ARG	Spinocerebellar ataxia 28 (SCA28)
Swiss-Prot	VAR_064404	Disease	p.MET666THR	Spinocerebellar ataxia 28 (SCA28)
Swiss-Prot	VAR_064405	Disease	p.MET666VAL	Spinocerebellar ataxia 28 (SCA28)
Swiss-Prot	VAR_064402	Disease	p.THR654ILE	Spinocerebellar ataxia 28 (SCA28)
Swiss-Prot	VAR_067330	Disease	p.TYR616CYS	Spastic ataxia autosomal recessive 5 (SPAX5)
OMIM	604581.0003	Disease	p.ALA694GLU	SPINOCEREBELLAR ATAXIA 28
OMIM	604581.0004	Disease	p.ARG702GLN	SPINOCEREBELLAR ATAXIA 28
OMIM	604581.0005	Disease	p.ASN432THR	SPINOCEREBELLAR ATAXIA 28
OMIM	604581.0001	Disease	p.GLU691LYS	SPINOCEREBELLAR ATAXIA 28
OMIM	604581.0008	Disease	p.GLY671ARG	SPINOCEREBELLAR ATAXIA 28
OMIM	604581.0007	Disease	p.MET666ARG	SPINOCEREBELLAR ATAXIA 28
OMIM	604581.0006	Disease	p.MET666VAL	SPINOCEREBELLAR ATAXIA 28
OMIM	604581.0009	Disease	p.THR654ILE	SPINOCEREBELLAR ATAXIA 28
OMIM	604581.0010	Disease	p.TYR616CYS	SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE

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