Results for the protein: P00568

Results for the Protein: P00568

20178288

203

AK1

NCBI, UniProt

KAD1_HUMAN RecName: Full=Adenylate kinase isoenzyme 1; Short=AK 1; AltName: Full=ATP-AMP transphosphorylase 1; AltName: Full=ATP:AMP phosphotransferase; AltName: Full=Adenylate monophosphate kinase; AltName: Full=Myokinase

Known Diseases associated with this Protein:
ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY (HAAKD)

9

1

5

1

4

Tips:

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Default View: Tmk - COG0125 CoaE - COG0237 Adk - COG0563 TMPK - cd01672 NK - cd02019 ADK - cd01428 ADK - pfam00406	Swiss-Prot Protein: P00568 Identical to: NP_000467 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CoaE	COG0237	0.00055	7	175
TMPK	cd01672	0.00021	9	192
Adk	COG0563	2.2e-54	9	191
ADK	cd01428	1.4e-81	10	182
NK	cd02019	1e-05	10	175
ADK	pfam00406	3.1e-91	13	169

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_004021	Disease	p.ARG128TRP	Hemolytic anemia due to adenylate kinase deficiency (HAAKD)
dbSNP	rs8192462	Polymorphism	p.GLU123GLN	N/A
Swiss-Prot	VAR_055337	Disease	p.GLY40ARG	Hemolytic anemia due to adenylate kinase deficiency (HAAKD)
Swiss-Prot	VAR_055338	Disease	p.GLY64ARG	Hemolytic anemia due to adenylate kinase deficiency (HAAKD)
Swiss-Prot	VAR_055340	Disease	p.TYR164CYS	Hemolytic anemia due to adenylate kinase deficiency (HAAKD)
OMIM	103000.0002	Disease	p.ARG107TER	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
OMIM	103000.0001	Disease	p.ARG128TRP	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
OMIM	103000.0004	Disease	p.GLY40ARG	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
OMIM	103000.0005	Disease	p.GLY64ARG	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
OMIM	103000.0003	Disease	p.TYR164CYS	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO

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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