Table 1 Summary of analysed proteins and diseases
From: Spectrum of disease-causing mutations in protein secondary structures
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 |