Results for the protein: NP

Results for the Protein: NP_001033057

83977444

212

ALAS2

NCBI

5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform c precursor [Homo sapiens]

Known Diseases associated with this Protein:
  ANEMIA, HEREDITARY SIDEROBLASTIC
  ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET
  ANEMIA, HEREDITARY SIDEROBLASTIC, PYRIDOXINE REFRACTORY
  PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED DOMINANT

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Tips:

The Domains on the Default View are decided by the Domain's E-Value.

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To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: Preseq_ALAS - pfam09029 BioF - COG0156 csdA - COG0520 KBL_like - cd06454 Aminotran_1_2 - pfam00155 AAT_like - cd00609 Aminotran_5 - pfam00266 AAT_I - cd01494	RefSeq Protein: NP_001033057 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
csdA	COG0520	0.00024	160	532
KBL_like	cd06454	1.4e-205	176	527
AAT_like	cd00609	0.00064	178	525
AAT_I	cd01494	4.2e-12	222	390
Aminotran_1_2	pfam00155	1.6e-90	176	523
Aminotran_5	pfam00266	0.00027	193	505
Preseq_ALAS	pfam09029	1.4e-65	25	125

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	301300.0006	Disease	p.ALA159THR	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET
OMIM	301300.0008	Disease	p.ARG398CYS	ANEMIA, HEREDITARY SIDEROBLASTIC
OMIM	301300.0018	Disease	p.ARG439CYS	ANEMIA, HEREDITARY SIDEROBLASTIC
OMIM	301300.0012	Disease	p.ASP146ASN	ANEMIA, HEREDITARY SIDEROBLASTIC
OMIM	301300.0011	Disease	p.ASP146TYR	ANEMIA, HEREDITARY SIDEROBLASTIC
OMIM	301300.0007	Disease	p.ASP177VAL	ANEMIA, HEREDITARY SIDEROBLASTIC, PYRIDOXINE REFRACTORY
OMIM	301300.0010	Disease	p.CYS382TYR	ANEMIA, HEREDITARY SIDEROBLASTIC
OMIM	301300.0019	Disease	p.GLN535TER	PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED DOMINANT
OMIM	301300.0004	Disease	p.GLY278SER	ANEMIA, HEREDITARY SIDEROBLASTIC
OMIM	301300.0014	Disease	p.HIS511ASP	ANEMIA, HEREDITARY SIDEROBLASTIC
OMIM	301300.0001	Disease	p.ILE458ASN	ANEMIA, HEREDITARY SIDEROBLASTIC
OMIM	301300.0005	Disease	p.LYS286GLN	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET
OMIM	301300.0003	Disease	p.PHE152LEU	ANEMIA, HEREDITARY SIDEROBLASTIC
OMIM	301300.0009	Disease	p.SER555GLY	ANEMIA, HEREDITARY SIDEROBLASTIC
OMIM	301300.0002	Disease	p.THR375SER	ANEMIA, HEREDITARY SIDEROBLASTIC
OMIM	301300.0017	Disease	p.TYR186HIS	ANEMIA, HEREDITARY SIDEROBLASTIC

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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