Results for the protein: P22557

Results for the Protein: P22557

20141346

212

ALAS2

NCBI, UniProt

HEM0_HUMAN RecName: Full=5-aminolevulinate synthase, erythroid-specific, mitochondrial; Short=ALAS-E; AltName: Full=5-aminolevulinic acid synthase 2; AltName: Full=Delta-ALA synthase 2; AltName: Full=Delta-aminolevulinate synthase 2; Flags: Precursor

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

36

2

16

0

22

Tips:

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

Clicking a check box will display or hide the correlated domain.

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	Swiss-Prot Protein: P22557 Identical to: NP_000023 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
csdA	COG0520	0.00024	173	545
KBL_like	cd06454	1.4e-205	189	540
AAT_like	cd00609	0.00064	191	538
AAT_I	cd01494	4.2e-12	235	403
Aminotran_1_2	pfam00155	1.6e-90	189	536
Aminotran_5	pfam00266	0.00027	206	518
Preseq_ALAS	pfam09029	1.4e-65	1	101

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_066238	Disease	p.ARG375CYS	Anemia, sideroblastic, X-linked (XLSA)
Swiss-Prot	VAR_000563	Disease	p.ARG411CYS	Anemia, sideroblastic, X-linked (XLSA)
Swiss-Prot	VAR_012337	Disease	p.ARG452CYS	Anemia, sideroblastic, X-linked (XLSA)
Swiss-Prot	VAR_012335	Disease	p.ARG204GLN	Anemia, sideroblastic, X-linked (XLSA)
Swiss-Prot	VAR_012336	Disease	p.ARG448GLN	Anemia, sideroblastic, X-linked (XLSA)
Swiss-Prot	VAR_066240	Disease	p.ARG452GLY	Anemia, sideroblastic, X-linked (XLSA)
Swiss-Prot	VAR_066233	Disease	p.ARG170HIS	Anemia, sideroblastic, X-linked (XLSA)
Swiss-Prot	VAR_066234	Disease	p.ARG218HIS	Anemia, sideroblastic, X-linked (XLSA)
Swiss-Prot	VAR_066239	Disease	p.ARG411HIS	Anemia, sideroblastic, X-linked (XLSA)
Swiss-Prot	VAR_066241	Disease	p.ARG452HIS	Anemia, sideroblastic, X-linked (XLSA)
Swiss-Prot	VAR_018605	Disease	p.ARG560HIS	Anemia, sideroblastic, X-linked (XLSA)
Swiss-Prot	VAR_066243	Disease	p.ARG572HIS	Anemia, sideroblastic, X-linked (XLSA)
Swiss-Prot	VAR_066236	Disease	p.ASP263ASN	Anemia, sideroblastic, X-linked (XLSA)
Swiss-Prot	VAR_018604	Disease	p.ASP159TYR	Anemia, sideroblastic, X-linked (XLSA)
Swiss-Prot	VAR_066235	Disease	p.GLU242LYS	Anemia, sideroblastic, X-linked (XLSA)
Swiss-Prot	VAR_000564	Disease	p.ILE476ASN	Anemia, sideroblastic, X-linked (XLSA)
Swiss-Prot	VAR_066232	Disease	p.LYS156GLU	Anemia, sideroblastic, X-linked (XLSA)
Swiss-Prot	VAR_066237	Disease	p.PRO339LEU	Anemia, sideroblastic, X-linked (XLSA)
Swiss-Prot	VAR_066242	Polymorphism	p.PRO520LEU	N/A
Swiss-Prot	VAR_000562	Disease	p.THR388SER	Anemia, sideroblastic, X-linked (XLSA)
Swiss-Prot	VAR_012334	Disease	p.TYR199HIS	Anemia, sideroblastic, X-linked (XLSA)
Swiss-Prot	VAR_066244	Polymorphism	p.TYR586PHE	N/A
OMIM	301300.0006	Disease	p.ALA172THR	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET
OMIM	301300.0008	Disease	p.ARG411CYS	ANEMIA, HEREDITARY SIDEROBLASTIC
OMIM	301300.0018	Disease	p.ARG452CYS	ANEMIA, HEREDITARY SIDEROBLASTIC
OMIM	301300.0012	Disease	p.ASP159ASN	ANEMIA, HEREDITARY SIDEROBLASTIC
OMIM	301300.0011	Disease	p.ASP159TYR	ANEMIA, HEREDITARY SIDEROBLASTIC
OMIM	301300.0007	Disease	p.ASP190VAL	ANEMIA, HEREDITARY SIDEROBLASTIC, PYRIDOXINE REFRACTORY
OMIM	301300.0010	Disease	p.CYS395TYR	ANEMIA, HEREDITARY SIDEROBLASTIC
OMIM	301300.0019	Disease	p.GLN548TER	PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED DOMINANT
OMIM	301300.0004	Disease	p.GLY291SER	ANEMIA, HEREDITARY SIDEROBLASTIC
OMIM	301300.0014	Disease	p.HIS524ASP	ANEMIA, HEREDITARY SIDEROBLASTIC
OMIM	301300.0001	Disease	p.ILE471ASN	ANEMIA, HEREDITARY SIDEROBLASTIC
OMIM	301300.0005	Disease	p.LYS299GLN	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET
OMIM	301300.0003	Disease	p.PHE165LEU	ANEMIA, HEREDITARY SIDEROBLASTIC
OMIM	301300.0009	Disease	p.SER568GLY	ANEMIA, HEREDITARY SIDEROBLASTIC
OMIM	301300.0002	Disease	p.THR388SER	ANEMIA, HEREDITARY SIDEROBLASTIC
OMIM	301300.0017	Disease	p.TYR199HIS	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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