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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