Table 1

Summary of analysed proteins and diseases

Name

Symbol

PDB

OMIM

Disease(s)

Mutations


ABO blood group (transferase A, α1–3-N-acetylgalactosaminyltransferase; transferase B, α1–3-galactosyltransferase)

ABO

1lzj

110300

Blood group variation

22

alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase)

AGXT

1h0c

604285

Hyperoxaluria

22

arylsulfatase B

ARSB

1fsu

253200

Mucopolysaccharidosis VI

30

argininosuccinate lyase

ASL

1k62

608310

Argininosuccinate lyase deficiency

21

Bruton agammaglobulinemia tyrosine kinase

BTK

1btk, 1k2p

300300

X-linked agammaglobulinaemia

144

cystathionine-β-synthase

CBS

1jbq

236200

Homocystinuria

74

CD40 ligand (TNF superfamily, member 5, hyper-IgM syndrome)

CD40LG

1aly

300386

Hyper-IgM syndrome

27

cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)

CFTR

1xmj

602421

Asthma; Cystic fibrosis; Idiopathic pancreatitis; Congenital absence of vas deferens; Hereditary pancreatitis; Hypertrypsinaemia; Primary sclerosing cholangitis; Susceptibility to sarcoidosis; Idiopathic Bronchiectasis

86

CHK2 checkpoint homolog

CHEK2

1gxc

604373

Multiple cancers

10

doublecortex; lissencephaly, X-linked (doublecortin)

DCX

1mjd

300121

Double cortex syndrome; X linked lissencephaly syndrome; Subcortical band heterotopia; Resistant partial seizures

16

cytochrome b5 reductase 3

CYB5R3

1umk

250800

Methaemoglobinaemia

18

ectodysplasin A

EDA

1rj7

300451

Ectodermal dysplasia

22

coagulation factor XIII, A1 polypeptide

F13A1

1f13

134570

Factor XIII deficiency

30

coagulation factor VIII, procoagulant component (hemophilia A)

F8

1iqd

306700

Haemophilia A

39

glucose-6-phosphate dehydrogenase

G6PD

1qki

305900

Glucose-6-phosphate dehydrogenase deficiency

130

GTP cyclohydrolase 1 (dopa-responsive dystonia)

GCH1

1fb1

600225

Dopa-responsive and progressive dystonia; Tetrahydrobiopterin deficiency

45

galactosidase, α

GLA

1r46

301500

Fabry disease

179

glucuronidase, β

GUSB

1bhg

253220

Mucopolysaccharidosis VII; Hydrops fetalis

28

hemoglobin, β

HBB

1o1p

141900

Haemoglobin variant; Haemolytic anaemia; β-thalassaemia; Erythrocytosis; Sickle cell anaemia

160

homogentisate 1,2-dioxygenase (homogentisate oxidase)

HGD

1eyb

607474

Alkaptonuria

29

hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)

HPRT1

1bzy

308000

Hypoxanthine guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome; Hyperuricaemia; Hyperuricaemia with neurologic symptoms

105

insulin receptor

INSR

1ir3

147670

Leprechaunism; Insulin resistance; Insulin resistance A; Association with reduced diastolic blood pressure; Diabetes, NIDDM; Rabson-Mendenhall syndrome

19

lamin A/C

LMNA

1ifr

150330

Muscular dystrophy; Emery-Dreifuss; Seip syndrome; Dilated cardiomyopathy; Partial lipodystrophy; Atypical Werner Syndrome; Familial autosomal dominant partial lipodystrophy (Dunnigan variety); Hutchinson-Gilford progeria syndrome; Charcot-Marie-Tooth disease 2; Cardiac conduction defects; Muscular dystrophy; Partial lipodystrophy; Mandibuloacral dysplasia; Association with metabolic syndrome

22

neurofibromin 2 (bilateral acoustic neuroma)

NF2

1h4r

607379

Neurofibromatosis 2

8

ornithine aminotransferase (gyrate atrophy)

OAT

2oat

258870

Gyrate atrophy

27

ornithine carbamoyltransferase

OTC

1oth

300461

Ornithine transcarbamylase deficiency; Hyperammonaemia

154

phenylalanine hydroxylase

PAH

1j8u

261600

Phenylketonuria; Hyperphenylalaninaemia

240

paired box gene 6 (aniridia, keratitis)

PAX6

6pax

607108

Aniridia; Congenital cataract; Peters' anomaly; Optic-nerve malformations; Congenital nystagmus; Ectopia pupillae; Isolated foveal hypoplasia; Ocular anterior segment anomaly

27

pyruvate dehydrogenase (lipoamide) α1

PDHA1

1ni4

300502

Pyruvate dehydrogenase deficiency; Lactic acidosis; Leigh syndrome

40

pyruvate kinase, liver and RBC

PKLR

1liu

266200

Elevated red cell ATP; Haemolytic anaemia; Pyruvate kinase deficiency

93

prion protein (p27–30) (Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)

PRNP

1i4m

176640

Gerstmann-Straussler-Scheinker syndrome; Dementia; Creutzfeld-Jakob syndrome; Schizophrenia; Familial spongiform encephalopathy; Fatal familial insomnia; Prion disease

23

retinoblastoma 1 (including osteosarcoma)

RB1

1gux

180200

Retinoblastoma

18

solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)

SLC4A1

1hyn

109270

Spherocytosis; Blood group variation; Erythrocyte band 3 deficiency; Anaemia; Distal renal tubular acidosis; Acanthocytosis

7

superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))

SOD1

1mfm

147450

Amyotrophic lateral sclerosis; Motor neuron disease

69

sex determining region Y

SRY

1j46

480000

XY sex reversal; Gonadal dysgenesis; Hermaphroditism

31

transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor

TCF1

1ic8

142410

Diabetes mellitus, type 2; MODY; MODY2; MODY3; Serum C-peptide and insulin response; Insulin resistance

40

thyroid hormone receptor, β thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)

THRB

1nq2

190160

Thyroid hormone resistance

72

troponin T type 2 (cardiac)

TNNT2

1j1d

191045

hypertrophic/dilated cardiomyopathy

4

troponin I type 3 (cardiac)

TNNI3

1j1e

191044

hypertrophic/restrictive cardiomyopathy

7

tumor protein p53 (Li-Fraumeni syndrome)

TP53

1tup

191170

Li-Fraumeni syndrome; Adrenocortical carcinoma; Sarcoma; Lung cancer; Breast cancer; Carcinoma; Glioma; Astrocytoma; Adrenocortical carcinoma; Glioblastoma; Cytosarcoma phyllodes; Osteosarcoma; Multiple cancers; Familial adenomatous polyposis; Rhabdomyosarcoma; Ependymoma; Adenocarcinoma; Thyroid tumour; Leukaemia/lymphoma; Neuroblastoma

73

uroporphyrinogen decarboxylase

UROD

1r3s

176100

Porphyria cutanea tarda; Hepatoerythropoietic porphyria

37

uroporphyrinogen III synthase (congenital erythropoietic porphyria)

UROS

1jr2

606938

Erythropoietic porphyria; Guenther disease

21

vitamin D (1,25-dihydroxyvitamin D3) receptor

VDR

1ie9, 1kb2

601769

Higher bone mineral density; Rickets

10

von Hippel-Lindau tumor suppressor

VHL

1lm8

608537

von Hippel-Lindau syndrome; Phaeochromocytoma; Haemangioblastoma; Pancreatic cancer; Polycythemia, with high erythropoietin concentration; Phaeochromocytoma and paraganglioma

134


Khan and Vihinen BMC Structural Biology 2007 7:56   doi:10.1186/1472-6807-7-56

Open Data