| Uniprot Id | protein name | Reference | mutations | disease associations |
| O00560 | Syntenin-1 | 25909081 | | intracellular adaptor for increase expression of disease- relevant exosomes |
| Q9Y4G8 | Rap guanine nucleotide exchange factor 2 (Cyclic nucleotide ras GEF) (CNrasGEF) (Neural RAP guanine nucleotide exchange protein) (nRap GEP) (PDZ domain-containing guanine nucleotide exchange factor 1) (PDZ-GEF1) (RA-GEF-1) (Ras/Rap1-associating GEF-1) | 21115118 | | neurodegeneration by shrinking of dendritic spines |
| O88382 | MAGI2_RAT | 27932480 | | frame-shift leading to deregulation of MAGI2 leading to SRNS in humans as well |
| Q8BH60 | Golgi-associated PDZ and coiled-coil motif-containing protein | 22163003 | | Low malignant potential (LMP) causes deletion in chromosome 6 leading to a GOPC-ROS1 fusion gene which is oncogenic |
| P05067 | Amyloid beta A4 protein (ABPP) | 28265241 | | APP deletion accounts for major dysregulation within the PAZ proteome network. Ca2+-homeostasis, neurotransmitter release and mitochondrial function are affected and resemble the outcome during the pathogenesis of AD |
| Q14524 | Sodium channel protein type 5 subunit alpha | 28882890 | | Impairment of FGF-13 dependent regulation of channel activity by phohporylated sites on the C-terminus of Na1.5 leading to arrythmic disorders |
| Q92614 | Unconventional myosin-XVIIIa | 15835906 | R114 and G115 | Point mutations at R114 and G115 to alanine residues |
| P28223 | 5-hydroxytryptamine receptor 2A | 24637012 | S280A | Point mutation of serine at 280 position due to phosphorylation to alanine in the cerebral cortex under expousre to DOI hallocinogen |
| P41595 | 5-hydroxytryptamine receptor 2B (5-HT-2B) (5-HT2B) (Serotonin receptor 2B) | 22917605 | M63R, G51E | Met63ArG; Gly51Gln polymorphism seen I tourette syndrom patients and also has other mutations |
| P78536 | Disintegrin and metalloproteinase domain-containing protein 17 | 22010916 | | Loss of function mutation in ADAM-17 leading to inflammatory skin and bowel disease |
| P08588 | Beta-1 adrenergic receptor (Beta-1 adrenoreceptor) (Beta-1 adrenoceptor) | 12391161 | | V-A, S-A and S-D mutations in the SkV motif sequence of the ß1 adnergic receptor abrogates binding to the pdz sequence of CNrasGEF |
| P35609 | Alpha-actinin-2 (Alpha-actinin skeletal muscle isoform 2) (F-actin cross-linking protein) | 14567970, 15084604; 17254821; 19412328; 20801532; 21549096 | M640V | Heterozygous substitution at nucleotide 26 resulting in Q9R and another mutation leading to M604V in cardiomyopathy patients, p.Val127Met Polymorphism |
| Q15067 | Peroxisomal acyl-coenzyme A oxidase 1 (AcOX) (EC 1.3.3.6) (Palmitoyl-CoA oxidase) (Straight-chain acyl-CoA oxidase) (SCOX) | 20185470 | | Deficiency leads to adrenoleucodystrophy |
| Q4VCS5 | Angiomotin | 16430777 | | Increases chances of metastasis by promoting angiogenesis in breast tumours |
| Q9NQ90 | Anoctamin-2 (Transmembrane protein 16B) | 26862169 | | Increase in concentration of ANOT-2 autoantibodies as an indication of multiple sclerosis |
| P84077 | ADP-ribosylation factor 1 | 28631186 | | Over expressing of arf1 under EGFR1 promotes migration of gliomas |
| Q02410 | Amyloid beta A4 precursor protein-binding family A member 1 (Adapter protein X11alpha) (Neuron-specific X11 protein) (Neuronal Munc18-1-interacting protein 1) (Mint-1) | 8887653 | F198V | Mutation of F-V at position 198 affecting interactions with amyloid precursor protein |
| Q8N8V4 | Ankyrin repeat and SAM domain-containing protein 4B (Harmonin-interacting ankyrin repeat-containing protein) (Harp) | 26812018 | L48P | Decreased localization to microvilli due to L-P mutation at 48 position in the ANKR domain of ANKS4B |
| Q8IVF2 | Protein AHNAK2 | PMCID: PMC5458247 | | Overexpression is a biomarker for pancreatic ductal adenocarcinoma |
| Q16720 | Plasma membrane calcium-transporting ATPase 3 (PMCA3) (EC 3.6.3.8) (Plasma membrane calcium ATPase isoform 3) (Plasma membrane calcium pump isoform 3) | 22912398 | G1107D | G-D mutation at the 1107 position in the CaM-binding domain of isoform 3 of the PMCAs affecting the calcium pump leading to cerebellar ataxia's |
| Q01814 | Plasma membrane calcium-transporting ATPase 2 (PMCA2) (EC 3.6.3.8) (Plasma membrane calcium ATPase isoform 2) (Plasma membrane calcium pump isoform 2) | 27613092 | | Therapeutic role: silencing it induces cell death in breast cancer by upregulating BCl-2 |
| P25054 | Adenomatous polyposis coli protein (Protein APC) (Deleted in polyposis 2.5) | 21643010 | | Germline mutation in promoter 1B of APC leading to Familial adenomatous polyposis |
| Q9NZN5 | Rho guanine nucleotide exchange factor 12 (Leukemia-associated RhoGEF) | 10681437 | 11q23 chromosomal deletion | interstital deletion at chromosome11q23 leading to MLl-LARG fusion and this leads to AML |
| O15085 | Rho guanine nucleotide exchange factor 11 (PDZ-RhoGEF) | 18231709 | R1467H in ARHGEF11 | R1467H variant in the gene ARHGEF11 gene which is near to 1q21-q24, a chromosome linked fir type 2 diabetes |
| O00192 | Armadillo repeat protein deleted in velo-cardio-facial syndrome | 27189754, 11715041 | | DiGeorge syndrome, velocardiofacial syndrome and various other malformations have been described in association with deletions and translocations involving human chromosome 22q11. |
| P11274 | Breakpoint cluster region protein (EC 2.7.11.1) (Renal carcinoma antigen NY-REN-26) | 3107980, 15494376 | Q1982V and P2582G in the bcr-abl oncoprotein, V1271A mutation in the bcr protein | Translovcation of c-ABL oncogene to the 5' end of bcr gene( Philadelphia chromosome) is the main hallmark for CML |
| Q9BY67 | Cell adhesion molecule 1 (Immunoglobulin superfamily member 4) (IgSF4) (Nectin-like protein 2) (NECL-2) (Spermatogenic immunoglobulin superfamily) (SgIgSF) (Synaptic cell adhesion molecule) (SynCAM) (Tumor suppressor in lung cancer 1) (TSLC-1) | 24833255 , | | High incidence of Loss of CADM1 expression in breast cancer brain metastases(BCBM) leading to brain metsastases and also in gastric cancer |
| Q9BWT7 | Caspase recruitment domain-containing protein 10 (CARD-containing MAGUK protein 3) (Carma 3) | 27896285 | R212H, A328V, V342, R404W | R212H, A328V, V342M, R404W, R829W variants in CARD 10 seen in glaucoma patients |
| Q9NRR3 | CDC42 small effector protein 2 (Small effector of CDC42 protein 2) | 26828437 | T35A | T35A, switch variant of cdc42 promotes hydrolysis of GTP in presence of PBD46 inducing cell signalling cascade |
| O75052 | Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein (C-terminal PDZ ligand of neuronal nitric oxide synthase protein) (Nitric oxide synthase 1 adaptor protein) | 28671047 | | inhibits proliferation of myeloma cells by suppressing AKT pathway-Indirect pathway |
| Q9Y698 | Voltage-dependent calcium channel gamma-2 subunit (Neuronal voltage-gated calcium channel gamma-2 subunit) (Transmembrane AMPAR regulatory protein gamma-2) (TARP gamma-2) | 21376300 | V143L in CACNG2 at chromosome 22 | Causes nonsyndromic intellectual disability by deleterious mutations in CACNG2, KIF1A, SYNGAP1 and others. |
| P13569 | Cystic fibrosis transmembrane conductance regulator (CFTR) (ATP-binding cassette sub-family C member 7) (Channel conductance-controlling ATPase) (EC 3.6.3.49) (cAMP-dependent chloride channel) | 15528182 | F508A in NBD1 domain | Phe-508 mutation in NBD1 domain of CFTR is the main factor of cystic fibrosis |
| P51790 | H(+)/Cl(-) exchange transporter 3 (Chloride channel protein 3) (ClC-3) (Chloride transporter ClC-3) | 11274166 | G208E n the conserved motif in the putative pore region | mutation leading in changed anion selectivity from I(-) > Cl(-) to Cl(-) > I(-) |
| Q6P9H4 | Connector enhancer of kinase suppressor of ras 3 (Connector enhancer of KSR 3) (CNK homolog protein 3) (CNK3) (CNKSR family member 3) (Maguin-like protein) | 9814705 | A162S, Q1164K and G1155S | cnkXE allele has 9bp frame deletion leading to A162S , cnkXE-1040 has a 4 bp deletion that creates a frameshift after Ser-692. cnkE-1222 has a Glu-1164 to Lys change, cnkE-1756 has a Gly-1155 to Ser change. Finally,cnkE-2083 has a point mutation that changes Gln-257 to a stop codon |
| P23508 | Colorectal mutant cancer protein (Protein MCC) | 22480440 | S828A | S828A mutation at position 1 of the PDZ binding motif of MCC reduces its binding affinity with SCRIB |
| O14578 | Citron Rho-interacting kinase (CRIK) (EC 2.7.11.1) (Serine/threonine-protein kinase 21) | 27453578, 27519304 | G106V, K126Q, D230V at the kinase domain of CIT, another homozygous variant is(c.753+3A>T) | Three missense mutations that lead to microcephaly 17(MCP17)impairing kinase activity, Also another homozygous variant found is (c.753+3A>T) |
| Q9NZV1 | Cysteine-rich motor neuron 1 protein (CRIM-1) (Cysteine-rich repeat-containing protein S52) [Cleaved into: Processed cysteine-rich motor neuron 1 protein] | 26653968 | | Indirect role: Increase in its expression leads to increase in epithelial mesenchumal transition |
| Q13618 | Cullin-3 (CUL-3) | 22266938 | D413G,K459R in PHA2E | Mutations cause PseudoHypoaldosteronism Type2 |
| O60759 | Cytohesin-interacting protein (Cytohesin binder and regulator) (CYBR) (Cytohesin-associated scaffolding protein) (CASP) (Cytohesin-binding protein HE) (Cbp HE) (Pleckstrin homology Sec7 and coiled-coil domains-binding protein) | 12606567, | K82E, F90A and I92A | Indirect: 3 non specific mutations |
| Q9NYF0 | Dapper homolog 1 (hDPR1) (Dapper antagonist of catenin 1) (Hepatocellular carcinoma novel gene 3 protein) | 22610794, 22961180 | R45W, N356K I136A | five missense heterozygote mutations of the DACT1 gene cause neural tube defects |
| P35222 | Catenin beta-1 (Beta-catenin) | 28956362, 9065402 | S45F&T44A(GSK-3b phosphorylation sites), S33C, S45F and G34R in exon 3 of CTNNB1 gene | mutations in the CTNB1 gene are one of the main factors to cause colorectal cancer and also leads to adrenocortical tumors |
| Q9P021 | Cysteine-rich PDZ-binding protein (Cysteine-rich interactor of PDZ three) (Cysteine-rich interactor of PDZ3) | 27250922 | C3Y variant in exon 1 of CRIPT | mutations in this gene is primarily responsible for autosomal recessive dwarfisim& distinctive facies syndrome |
| Q9UQB3 | Catenin delta-2 (Delta-catenin) (GT24) (Neural plakophilin-related ARM-repeat protein) (NPRAP) (Neurojungin) | 25807484 | G34S and R713C | Deleterious variants leads to autism |
| P27487 | Dipeptidyl peptidase 4 (EC 3.4.14.5) (ADABP) (Adenosine deaminase complexing protein 2) (ADCP-2) (Dipeptidyl peptidase IV) (DPP IV) (T-cell activation antigen CD26) (TP103) (CD antigen CD26) [Cleaved into: Dipeptidyl peptidase 4 membrane form (Dipeptidyl peptidase IV membrane form); Dipeptidyl peptidase 4 soluble form (Dipeptidyl peptidase IV soluble form)] | 28575350 | | Increased overexpression is highly seen in that of papillary thyroid cancer |
| Q86XP1 | Diacylglycerol kinase eta (DAG kinase eta) (EC 2.7.1.107) (Diglyceride kinase eta) (DGK-eta) | 27255576 | rs34584424 | Presence of missense variants such as rs34584424 are risk agents for panic disorder |
| Q9P219 | Protein Daple (Coiled-coil domain-containing protein 88C) (Dvl-associating protein with a high frequency of leucine residues) (hDaple) (Hook-related protein 2) (HkRP2) | 23042809, 25062847 | E1949GfsX26 frame shift mutation in family 2, R464H in the coding region of Coiled-coil domain of CCDC88C | homozygous mutations in CCDc88C leads to Human congenital non-syndromic hydrocephalus. |
| Q5KSL6 | Diacylglycerol kinase kappa (DAG kinase kappa) (EC 2.7.1.107) (142 kDa diacylglycerol kinase) (Diglyceride kinase kappa) (DGK-kappa) | 16210324 | Y78F and Y1075F, phosphorylation at tyrosine resideu | Indirect role: Affects phoshphorylation bu single base pair mutation |
| O14640 | Segment polarity protein dishevelled homolog DVL-1 (Dishevelled-1) (DSH homolog 1) | 25817016 | H502P, Y507G based on chromosome 1 | Mutations that lead to robinow syndrome |
| P98172 | Ephrin-B1 (EFL-3) (ELK ligand) (ELK-L) (EPH-related receptor tyrosine kinase ligand 2) (LERK-2) | 15124102 | P54L T111I in multimerization and receptor-interaction motifs found within the ephrin-B1 extracellular domain | mutations lead to craniofrontonasal syndrome |
| P04626 | Receptor tyrosine-protein kinase erbB-2 (EC 2.7.10.1) (Metastatic lymph node gene 19 protein) (MLN 19) (Proto-oncogene Neu) (Proto-oncogene c-ErbB-2) (Tyrosine kinase-type cell surface receptor HER2) (p185erbB2) (CD antigen CD340) | 15457249 | E914K glm, N857S in OC, L755P LNCR and G776C in GASC | mutations that cause glioma and 3 types of cancer and more |
| P29317 | Ephrin type-A receptor 2 (EC 2.7.10.1) (Epithelial cell kinase) (Tyrosine-protein kinase receptor ECK) | 19005574, 19306328, 22570727 | R721Q, T940I, G948W in CTRCT6 | mutations in this receptor lead to congentital cataract formation which is highlighened as follows |
| Q15303 | Receptor tyrosine-protein kinase erbB-4 (EC 2.7.10.1) (Proto-oncogene-like protein c-ErbB-4) (Tyrosine kinase-type cell surface receptor HER4) (p180erbB4) [Cleaved into: ERBB4 intracellular domain (4ICD) (E4ICD) (s80HER4)] | 24119685 | R927Q, R1275W in the tyrosine kinase domain or C terminal domain of ERbb4 | mutations lead to ALS 19 |
| Q14CM0 | FERM and PDZ domain-containing protein 4 (PDZ domain-containing protein 10) (PSD-95-interacting regulator of spine morphogenesis) (Preso) | 25644381 | C553R, C618V in FRMPD4 | X-linked mental retardation syndrome |
| O60353 | Frizzled-6 (Fz-6) (hFz6) | 21665003 | R511C IN frzd 6 | Autosomal recessive nail dysplasia due to mutationns in this gene |
| Q5SYB0 | FERM and PDZ domain-containing protein 1 (FERM domain-containing protein 2) | 23318951 | E-A at 924 and 931 position of the FRMPD1-GPSM2 interacting site | Na |
| Q9ULV1 | Frizzled-4 (Fz-4) (hFz4) (FzE4) (CD antigen CD344) | 12172548, 14507768 | M493 and W494, M105V, R417Q, and G488D, M342V | familial exudative vitreoretinopathy caused by mutations |
| O75084 | Frizzled-7 (Fz-7) (hFz7) (FzE3) | 27386966 | K252A,K569A | NA |
| Q13002 | Glutamate receptor ionotropic, kainate 2 (GluK2) (Excitatory amino acid receptor 4) (EAA4) (Glutamate receptor 6) (GluR-6) (GluR6) | 17847003 | in-frame deletion of 84 aa between amino acids 317 and 402 in the N terminal region of GLUK6 | autosomal recessive mental retardation. |
| O43424 | Glutamate receptor ionotropic, delta-2 (GluD2) (GluR delta-2 subunit) | 23611888, 25841024 | "A654D, L656V at genomic position 94,411,897 |
| on chromosome 4 " | mutations in this gene leads to cerebellar ataxia and atrophy. |
| P11166 | Solute carrier family 2, facilitated glucose transporter member 1 (Glucose transporter type 1, erythrocyte/brain) (GLUT-1) (HepG2 glucose transporter) | 10980529, 11603379, 11136715 | R126H, G91D, S66F, M96V, E146K in GLUT1DS1 | GLUT-1 deficiency |
| P25092 | Heat-stable enterotoxin receptor (STA receptor) (hSTAR) (EC 4.6.1.2) (Guanylyl cyclase C) (GC-C) (Intestinal guanylate cyclase) | 22436048, 22521417 | S840I, D387G in MI | Diarrhea 6 and Meconewm ileus |
| Q09470 | Potassium voltage-gated channel subfamily A member 1 (Voltage-gated K(+) channel HuKI) (Voltage-gated potassium channel HBK1) (Voltage-gated potassium channel subunit Kv1.1) | 7842011, 8845167, 10355668 | V174F, F184C, T226R | Episodic ataxia 1 |
| Q1MX18 | Protein inscuteable homolog | 22074847 | W78A at the interaction site between INSC andGPSM2 | NA |
| Q9ULH0 | Kinase D-interacting substrate of 220 kDa (Ankyrin repeat-rich membrane-spanning protein) | 27005418, 2893439 | deleterious mutations from 1350-1771, nonsense variants, In CV lof variants such as E1132S, V993C in KIDINS220 gene | mutations in the gene cause spastic paraplegia, intellectual disability, nystagmus, and obesity and also are seen in cerebral ventriculomegaly and limb contractures. |
| Q15058 | Kinesin-like protein KIF14 | 24128419 | c.1750_1751delGA) in exon 9 that leads to a frameshift mutation(Q584I) and another nonsense mytation in R594 | causes rare lethal ciliopathic genetic disorder also known as Meckel's syndrome |
| P16389 | Potassium voltage-gated channel subfamily A member 2 (NGK1) (Voltage-gated K(+) channel HuKIV) (Voltage-gated potassium channel HBK5) (Voltage-gated potassium channel subunit Kv1.2) | 25477152 | I263T, R297Q | early epilapthic encephalopathy |
| P63252 | Inward rectifier potassium channel 2 (Cardiac inward rectifier potassium channel) (Inward rectifier K(+) channel Kir2.1) (IRK-1) (hIRK1) (Potassium channel, inwardly rectifying subfamily J member 2) | 12148092 | | Anderson's Sydrome, |
| P48051 | G protein-activated inward rectifier potassium channel 2 (GIRK-2) (BIR1) (Inward rectifier K(+) channel Kir3.2) (KATP-2) (Potassium channel, inwardly rectifying subfamily J member 6) | 25620207 | (c.455_457del, (p.Thr152del) & p.Gly154Ser | Keppen-Lubinsky syndrome |
| P10721 | Mast/stem cell growth factor receptor Kit (SCFR) (EC 2.7.10.1) (Piebald trait protein) (PBT) (Proto-oncogene c-Kit) (Tyrosine-protein kinase Kit) (p145 c-kit) (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) (CD antigen CD117) | 7694728, 1717985,7687267,8680409 ,9438854 | E583K, F584C, G601R: K550I in GST, I571A | Pielbald trait, a skin disorder then stromal and testicular and AML |
| P22460 | Potassium voltage-gated channel subfamily A member 5 (HPCN1) (Voltage-gated potassium channel HK2) (Voltage-gated potassium channel subunit Kv1.5) | 17261810, 19343045,26309673 | I220N when withN-535 rs3741930 A SNP | atrial filibration |
| Q9Y2M5 | Kelch-like protein 20 (Kelch-like ECT2-interacting protein) (Kelch-like protein X) | | rs110857735 polymorphism of the Keap1 gene leads to a high hazard rate in cardiovascular events | Prediction of cardiovascular events in chronic kidney disease patients |
| O75112 | LIM domain-binding protein 3 (Protein cypher) (Z-band alternatively spliced PDZ-motif protein) | 25041374, 27553890 | heterozygous missense mutation in LDB3 c.1051A>G in LDB3 and in LVNC, V551I in LDB3 | mutation in this gene causes arrhythmogenic right ventricular cardiomyopathy and also Left ventricular non-compaction |
| Q9NZV8 | Potassium voltage-gated channel subfamily D member 2 (Voltage-gated potassium channel subunit Kv4.2) | 24501278 | The de novo mutation p.Val404Met within the C-terminal end of the transmembrane helix S6 region | autism spectrym disorder |
| Q93052 | Lipoma-preferred partner (LIM domain-containing preferred translocation partner in lipoma) | 16271958 | | Indirect role: fusion of LPP-HMGA2 fusion transcript in pulmonary chondroid hamartomas |
| Q5TCQ9 | Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3 (Membrane-associated guanylate kinase inverted 3) (MAGI-3) | 27205883 | | Indirect role: altered mRNA isoform, called MAGI3(pPA), produces a truncated protein that acts in a dominant-negative manner to prevent full-length MAGI3 from interacting with the YAP oncoprotein highly present in breast cancer |
| O43462 | Membrane-bound transcription factor site-2 protease (EC 3.4.24.85) (Endopeptidase S2P) (Sterol regulatory element-binding proteins intramembrane protease) (SREBPs intramembrane protease) | 19361614, 22931912,20672378 | pH227L, p.R429H, p.M87I in MBTPS2 gene &F464S in case of Olmstead syndrome &N508S in KFSDX | Ichthyosis follicularis with atrichia and photophobia (IFAP syndrome, also X-linked form of Olmsted syndrome and Keratosis Follicularis Spinulosa Decalvans |
| P26038 | Moesin (Membrane-organizing extension spike protein) | 27405666 | R171W the MSN four-point-one, ezrin, radixin, moesin domain. | X linked immunodeficiency |
| P36507 | Dual specificity mitogen-activated protein kinase kinase 2 (MAP kinase kinase 2) (MAPKK 2) (EC 2.7.12.2) (ERK activator kinase 2) (MAPK/ERK kinase 2) (MEK 2) | 18042262, 20358587, 16439621 | F37C in exon 2 of MEK2, p.P128Q in exon3, | cardio-facio-cutaneous syndrome. |
| Q8N0W4 | Neuroligin-4, X-linked (Neuroligin X) (HNLX) | 24570023, 23431752 | p.G84R (NLGN4X), p.Q162 K (NLGN4X) and p.A283T | X linked autism |
| Q9UKN7 | Unconventional myosin-XV (Unconventional myosin-15) | 25792667, 28390610, 27635202, 27375115 | p.G1358S, p.R1993Q,p.A2153fs, p.S2235Pp.L3138Q | Autosomal recessive nonsyndromic sensorineural hearing loss (ARNSHL) |
| Q15223 | Nectin-1 (Herpes virus entry mediator C) (Herpesvirus entry mediator C) (HveC) (Herpesvirus Ig-like receptor) (HIgR) (Nectin cell adhesion molecule 1) (Poliovirus receptor-related protein 1) (CD antigen CD111) | 21980294 | F129A | NA |
| Q8NFZ4 | Neuroligin-2 | 27865048 | p.(Tyr147Ter | Indirect rolee in autism |
| Q9NZ94 | Neuroligin-3 (Gliotactin homolog) | 24570023 | G426S (NLGN3 | With NLGNx4 causes autismm |
| Q12879 | Glutamate receptor ionotropic, NMDA 2A (GluN2A) (Glutamate [NMDA] receptor subunit epsilon-1) (N-methyl D-aspartate receptor subtype 2A) (NMDAR2A) (NR2A) (hNR2A) | 28936771 | p.N447K, N447AN447E | Rolanidc epilepsy |
| O15399 | Glutamate receptor ionotropic, NMDA 2D (GluN2D) (EB11) (Glutamate [NMDA] receptor subunit epsilon-4) (N-methyl D-aspartate receptor subtype 2D) (NMDAR2D) (NR2D) | 27616483 | p.Val667Ile | Severe Epileptic Encephalopathy |
| P35580 | Myosin-10 (Cellular myosin heavy chain, type B) (Myosin heavy chain 10) (Myosin heavy chain, non-muscle IIb) (Non-muscle myosin heavy chain B) (NMMHC-B) (Non-muscle myosin heavy chain IIb) (NMMHC II-b) (NMMHC-IIB) | 25356899 | R280C | Linked with intellectual disabiluty |
| Q05586 | Glutamate receptor ionotropic, NMDA 1 (GluN1) (Glutamate [NMDA] receptor subunit zeta-1) (N-methyl-D-aspartate receptor subunit NR1) (NMD-R1) | 26933583 | D552E in pre-M1 helix, M3 transmembrane domain (M641I and N650K) and M4 transmembrane domain (G815R) | non syndromic intellectual disability |
| Q13224 | Glutamate receptor ionotropic, NMDA 2B (GluN2B) (Glutamate [NMDA] receptor subunit epsilon-2) (N-methyl D-aspartate receptor subtype 2B) (NMDAR2B) (NR2B) (N-methyl-D-aspartate receptor subunit 3) (NR3) (hNR3) | 28734458 | P553T | Rett-like encelopathy |
| Q9H5P4 | PDZ domain-containing protein 7 | 20440071 | n, p.R56PfsX24 de novo mytation | Usher syndrome 1C and 2D |
| Q99569 | Plakophilin-4 (p0071) | 27182706 | chr2:159519581 c.2384G>A Arg795Lys | Indirect role in Sick Sinus Syndrome, |
| O60260 | E3 ubiquitin-protein ligase parkin (Parkin) (EC 6.3.2.-) (Parkinson juvenile disease protein 2) (Parkinson disease protein 2) | 27006626 | (S167N, E310D, D394N) of PRKN | Parkinsons's disease |
| O00592 | Podocalyxin (GCTM-2 antigen) (Gp200) (Podocalyxin-like protein 1) (PC) (PCLP-1) | 28004467 | NA | Indirect role in many cancers, promotes EMT |
| Q16513 | Serine/threonine-protein kinase N2 (EC 2.7.11.13) (PKN gamma) (Protein kinase C-like 2) (Protein-kinase C-related kinase 2) | 1844320 | rs6698181, SNP | High prevalance in type 2 diabetes |
| O43157 | Plexin-B1 (Semaphorin receptor SEP) | 22404908 | T1697A, T1795A and L1815P | Indirect role: mutations in this gene are highly present in prostrate tumors |
| Q9NRD5 | PRKCA-binding protein (Protein interacting with C kinase 1) (Protein kinase C-alpha-binding protein) | 15247289 | PDZ domain of PICK1 (K27E; PICK1-KE) results in a loss of interaction with GluR2 but not with PKCalpha | NA |
| Q9BZL4 | Protein phosphatase 1 regulatory subunit 12C (Protein phosphatase 1 myosin-binding subunit of 85 kDa) (Protein phosphatase 1 myosin-binding subunit p85) | 19549848 | Translocation breakpoint junctions for t(19;X), chromosomal deletions | NA |
| P49768 | Presenilin-1 (PS-1) (EC 3.4.23.-) (Protein S182) [Cleaved into: Presenilin-1 NTF subunit; Presenilin-1 CTF subunit; Presenilin-1 CTF12 (PS1-CTF12)] | 28764909, 28664294,27614114, 28532646, 28949931,27411468 | S230N, S170P, A431E, M84V,(p.Q420X). | Alzehimers disease, spastic paraparesis AND Inversa Acne |
| P61224 | Ras-related protein Rap-1b (GTP-binding protein smg p21B) | 27712585 | | Indirect role: Knockdown leads to apoptosis and autophagy in gastric cancer cells |
| Q96DA2 | Ras-related protein Rab-39B | 28851564, 27943471, 27066548 , 26399558 | "G192R, nonsensemutation(c.557G. |
| in exon 2, c. 536dupA (p.E179fsX48" | X linked parkinsons |
| Q8IUD2 | ELKS/Rab6-interacting/CAST family member 1 (ERC-1) (Rab6-interacting protein 2) | 10337992 | translocation t(10;12)(q11;p13) | translocation in papillary carcinoma |
| O75056 | Syndecan-3 (SYND3) | 14606043 | "3 SNP's r rs2491132, rs4949184, |
| and rs1539360)." | NA |
| P31431 | Syndecan-4 (SYND4) (Amphiglycan) (Ryudocan core protein) | 17485492 | Y188L AND Y180L at the PKCα binding site of syndecan 4 | NA |
| P48764 | Sodium/hydrogen exchanger 3 (Na(+)/H(+) exchanger 3) (NHE-3) (Solute carrier family 9 member 3) | 26358773 | R382E, A311V, A127T,A269T | congenital sodium diarrhea. |
| P35499 | Sodium channel protein type 4 subunit alpha (SkM1) (Sodium channel protein skeletal muscle subunit alpha) (Sodium channel protein type IV subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.4) | 1338909 | A1156T, S804F | Paramyotonia conegnita and hyperkalemic periodic paralysis (HPP) |
| O75436 | Vacuolar protein sorting-associated protein 26A (Vesicle protein sorting 26A) (hVPS26) | 24152121 | D260N | expression disrupts trafficking of cathepsin D andprotease which degrades alpha synuclein which causes PD |
| Q9ULK5 | Vang-like protein 2 (Loop-tail protein 1 homolog) (Strabismus 1) (Van Gogh-like protein 2) | 20558380 | S84F, R353C& F437S | neural tube defects in fetus observed in chinese population |
| Q08AM6 | Protein VAC14 homolog (Tax1-binding protein 2) | 28635952 | T632M, L308 stop mutation | Yunis-Varón syndrome |
| P15313 | V-type proton ATPase subunit B, kidney isoform (V-ATPase subunit B 1) (Endomembrane proton pump 58 kDa subunit) (Vacuolar proton pump subunit B 1) | 27247958 | I386H, P346R, R743W | Autosomal recessive distal renal tubular acidosis (dRTA) |
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