Results for the protein: Q2TBA0

Results for the Protein: Q2TBA0

125950763

131377

KLHL40

NCBI, UniProt

KLH40_HUMAN RecName: Full=Kelch-like protein 40; AltName: Full=Kelch repeat and BTB domain-containing protein 5; AltName: Full=Sarcosynapsin

Known Diseases associated with this Protein:
NEMALINE MYOPATHY 8
NEMALINE MYOPATHY 8 (NEM8)

17

4

5

2

14

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Default View: BTB - pfam00651 BTB - smart00225 BACK - smart00875 BACK - pfam07707 Kelch_1 - pfam01344 Kelch - smart00612	Swiss-Prot Protein: Q2TBA0 Identical to: NP_689606 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Kelch_1	pfam01344	0.0001	401	449
Kelch_1	pfam01344	2.4e-07	451	497
Kelch_1	pfam01344	7.2e-08	499	544
BTB	smart00225	3.1e-27	34	121
BACK	pfam07707	3.9e-32	133	237
BACK	smart00875	1.9e-34	133	238
Kelch	smart00612	3.2e-05	413	462
Kelch	smart00612	4.5e-11	463	510

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs6805421	Polymorphism	p.ASN345SER	N/A
dbSNP	rs123509	Polymorphism	p.CYS617ARG	N/A
Swiss-Prot	VAR_069846	Disease	p.ALA538PRO	Nemaline myopathy 8 (NEM8)
Swiss-Prot	VAR_069840	Disease	p.ARG311LEU	Nemaline myopathy 8 (NEM8)
Swiss-Prot	VAR_030214	Polymorphism	p.ASN345SER	N/A
Swiss-Prot	VAR_069836	Disease	p.ASP34HIS	Nemaline myopathy 8 (NEM8)
Swiss-Prot	VAR_030215	Polymorphism	p.CYS617ARG	N/A
Swiss-Prot	VAR_069845	Disease	p.GLU528LYS	Nemaline myopathy 8 (NEM8)
Swiss-Prot	VAR_069847	Disease	p.GLU588LYS	Nemaline myopathy 8 (NEM8)
Swiss-Prot	VAR_069843	Disease	p.GLY469CYS	Nemaline myopathy 8 (NEM8)
Swiss-Prot	VAR_069842	Disease	p.HIS455ARG	Nemaline myopathy 8 (NEM8)
Swiss-Prot	VAR_069837	Disease	p.LEU86PRO	Nemaline myopathy 8 (NEM8)
Swiss-Prot	VAR_069841	Disease	p.PRO397LEU	Nemaline myopathy 8 (NEM8)
Swiss-Prot	VAR_069844	Disease	p.THR506PRO	Nemaline myopathy 8 (NEM8)
Swiss-Prot	VAR_069839	Disease	p.TRP201LEU	Nemaline myopathy 8 (NEM8)
Swiss-Prot	VAR_069838	Disease	p.VAL194GLU	Nemaline myopathy 8 (NEM8)
OMIM	615340.0004	Disease	p.ALA538PRO	NEMALINE MYOPATHY 8
OMIM	615340.0001	Disease	p.GLU528LYS	NEMALINE MYOPATHY 8
OMIM	615340.0002	Disease	p.GLY469CYS	NEMALINE MYOPATHY 8
OMIM	615340.0003	Disease	p.TRP201LEU	NEMALINE MYOPATHY 8
OMIM	615340.0005	Disease	p.TRP201TER	NEMALINE MYOPATHY 8

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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