Results for the protein: Q5T2S8

Results for the Protein: Q5T2S8

74744660

55130

ARMC4

NCBI, UniProt

ARMC4_HUMAN RecName: Full=Armadillo repeat-containing protein 4

Known Diseases associated with this Protein:
CILIARY DYSKINESIA, PRIMARY, 23
CILIARY DYSKINESIA, PRIMARY, 23 (CILD23)

3

7

2

6

2

Tips:

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Default View: ARM - cd00020 ARM - smart00185 Arm - pfam00514	Swiss-Prot Protein: Q5T2S8 Identical to: NP_060546 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ARM	cd00020	5.5e-16	626	744
ARM	cd00020	1.8e-10	791	910
ARM	cd00020	2.4e-11	915	1033
Arm	pfam00514	1.2e-05	524	564
Arm	pfam00514	3.7e-06	621	661
Arm	pfam00514	3.1e-06	993	1033
ARM	smart00185	1.9e-06	524	564
ARM	smart00185	3.1e-05	621	661
ARM	smart00185	7.6e-06	993	1033

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs3737184	Polymorphism	p.ALA1041SER	N/A
dbSNP	rs35242712	Polymorphism	p.ARG787CYS	N/A
dbSNP	rs199740026	Polymorphism	p.ARG413GLN	N/A
dbSNP	rs35472668	Polymorphism	p.ARG666GLN	N/A
dbSNP	rs149372312	Polymorphism	p.ARG413GLY	N/A
Swiss-Prot	VAR_033514	Polymorphism	p.ASN935LYS	N/A
dbSNP	rs4405206	Polymorphism	p.ILE343THR	N/A
Swiss-Prot	VAR_070228	Disease	p.LEU927TRP	Ciliary dyskinesia, primary, 23 (CILD23)
OMIM	615408.0002	Disease	p.LEU927TRP	CILIARY DYSKINESIA, PRIMARY, 23
OMIM	615408.0004	Disease	p.SER892TER	CILIARY DYSKINESIA, PRIMARY, 23

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