Results for the protein: Q13614

Results for the Protein: Q13614

212276520

8898

MTMR2

NCBI, UniProt

MTMR2_HUMAN RecName: Full=Myotubularin-related protein 2

Known Diseases associated with this Protein:
CHARCOT-MARIE-TOOTH DISEASE 4B1 (CMT4B1)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1

4

3

3

3

1

Tips:

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Default View: GRAM - smart00568 GRAM - pfam02893 Myotub-related - pfam06602 PTPc_motif - smart00404 PTPc_DSPc - smart00012	Swiss-Prot Protein: Q13614 Identical to: NP_057240 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
GRAM	smart00568	1.1e-15	77	139
Myotub-related	pfam06602	8.4e-77	234	351
PTPc_DSPc	smart00012	1.7e-24	365	513
PTPc_motif	smart00404	1.7e-24	365	513

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_047947	Disease	p.ARG283TRP	Charcot-Marie-Tooth disease 4B1 (CMT4B1)
dbSNP	rs558018	Polymorphism	p.ASN545SER	N/A
dbSNP	rs61735578	Polymorphism	p.GLU502GLN	N/A
dbSNP	rs3824874	Polymorphism	p.LYS3THR	N/A
OMIM	603557.0001	Disease	p.GLN426TER	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1
OMIM	603557.0004	Disease	p.GLN482TER	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1
OMIM	603557.0003	Disease	p.GLU276TER	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1

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