Results for the protein: NP

Results for the Protein: NP_001167617

292494913

4010

LMX1B

NCBI

LIM homeobox transcription factor 1-beta isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
NAIL-PATELLA SYNDROME

7

1

7

1

0

Tips:

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Default View: LIM - smart00132 LIM - pfam00412 COG5576 - COG5576 HOX - smart00389 homeodomain - cd00086 Homeobox - pfam00046	RefSeq Protein: NP_001167617 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LIM	pfam00412	2.2e-25	56	111
LIM	pfam00412	3.3e-23	115	173
COG5576	COG5576	7.3e-07	168	323
Homeobox	pfam00046	1.2e-22	220	276
LIM	smart00132	1.3e-12	55	92
LIM	smart00132	5.2e-12	114	153
HOX	smart00389	1.4e-21	220	275

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs10115304	Polymorphism	p.SER373ARG	N/A
OMIM	602575.0008	Disease	p.ARG200GLN	NAIL-PATELLA SYNDROME
OMIM	602575.0002	Disease	p.ARG198TER	NAIL-PATELLA SYNDROME
OMIM	602575.0007	Disease	p.ARG208TER	NAIL-PATELLA SYNDROME
OMIM	602575.0011	Disease	p.ARG226TER	NAIL-PATELLA SYNDROME
OMIM	602575.0001	Disease	p.ASN246LYS	NAIL-PATELLA SYNDROME
OMIM	602575.0004	Disease	p.CYS95PHE	NAIL-PATELLA SYNDROME
OMIM	602575.0006	Disease	p.GLN59TER	NAIL-PATELLA SYNDROME

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