SNPMiner Trials by Shray Alag

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N1325S (1) V773M (1) Q812R (1) G212A (1) A997T (1) S241T (1) E167K (1) G1764A (1) G80A (1) E62D (1) E274Q (1) M34T (1) G401S (1) A2142C (1) G211A (1) D76Y (1) G1631D (1) D76N (1) E384G (1) V249I (1) M1106C (1) L234I (1) A2143C (1) L101I (1) K806E (1) A687V (1) A119S (1) P1028S (1) A313G (1) D824V (1) S9C (1) C182A (1) S9G (1) S153F (1) S1900D (1) S1900C (1) R1644H (1) S1900A (1) T1456G (1) R702W (1) T1565C (1) E1021K (1) K15210D (1) G82S (1) G779C (1) G840A (1) G779F (1) V18M (1) A27L (1) L28M (1) T351I (1) K121Q (1) H180Q (1) L28P (1) G779S (1) M11T (1) M11Q (1) P549S (1) N215S (1) R352W (1) G60D (1) G84E (1) E161K (1) G951A (1) C23S (1) E184K (1) V1206L (1) Y842C (1) L432V (1) V736A (1) E89Q (1) R135W (1) Y253F (1) G843D (1) D820Y (1) F77L (1) S311C (1) D10W (1) G86R (1) Y143H (1) Y143C (1) R112H (1) Y143A (1) A227G (1) K101Q (1) R463C (1) G85E (1) L236P (1) A310V (1) T798M (1) S310Y (1) R222C (1) A4917G (1) T798I (1) E44D (1) L302P (1) Q30R (1) L786V (1) R287Q (1) P286R (1) D36Y (1) R263Q (1) T599I (1) K103M (1) S680N (1) K1270A (1) R88Q (1) T224M (1) A5147S (1) P46L (1) N700D (1) E21G (1) Y822D (1) Q260A (1) Y188H (1) R131H (1) T81C (1) C316N (1) R1070Q (1) T1304M (1) I167V (1) I82A (1) Q54H (1) D13H (1) Q30H (1) L239R (1) Y823D (1) T117S (1) I84T (1) L106V (1) A222V (1) K432Q (1) G163S (1) I1370K (1) G163E (1) K650E (1) E757A (1) R399Q (1) G41S (1) P392L (1) C1895T (1) T334G (1) H274Y (1) R399G (1)

SNPMiner SNPMiner Trials (Home Page)


Report for Mutation R620W

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Analysis of B Cells From Autoimmune Individuals

This observational study aims at finding out if individual with autoimmunity exhibit increased numbers of B cells that express two types (instead of one type) of antibodies, and if B cells of individuals genetically susceptible to autoimmunity display defects in the biological process of tolerance, which removes B cells that participate in autoimmunity.

NCT02747277
Conditions
  1. Lupus Erythematosus
  2. Rheumatoid Arthritis
  3. Type 1 Diabetes
MeSH:Arthritis Arthritis, Rheumatoid Diabetes Mellitus, Type 1
HPO:Arthritis Polyarticular arthritis Rheumatoid arthritis Type I diabetes mellitus

Moreover, data will also be stratified in respect to the presence or absence of the PTPN22-R620W allele, which is a risk allele for autoimmunity.. Inclusion Criteria: - Adult Males and Females diagnosed with Lupus; - Adult Females who are pregnant and diagnosed with: - lupus erythematosus - rheumatoid arthritis, or - type 1 diabetes. --- R620W ---

Primary Outcomes

Description: For peripheral adult blood, the main outcome measure is the frequency of κ/λ (kappa to lambda ratios) dual immunoglobulin B cells within the overall B (CD19+ or CD20+) cell population. The collected data will be aggregated as the average frequency of κ/λ B cells in subjects with autoimmunity relative to healthy controls.

Measure: Frequency of kappa to lambda ratios of B cells in blood of autoimmune adults

Time: 1 day

Description: For cord blood samples, the main outcome measurement is the frequency of B cells that express both low levels of CD19 and IgM within the total (CD19+ or CD20+) B cell population. The collected data will be aggregated as the average frequency of CD19low/IgMlow B cells in subjects that were born from autoimmune mothers relative to those born from healthy mothers. Moreover, data will also be stratified in respect to the presence or absence of the PTPN22-R620W allele, which is a risk allele for autoimmunity.

Measure: Frequency of CD19 and IgM low B cells in cord blood of babies born from autoimmune mothers

Time: 1 day


HPO Nodes


HP:0001369: Arthritis
Genes 269
PADI4 AEBP1 KLRC4 IL12A-AS1 NLRP3 COL5A1 HLA-DRB1 TGFB3 NTRK1 NLRP3 FCGR2B GBA GJB2 GP1BB TRPV4 PTPN22 NLRP12 SCARB2 LEMD3 SLC37A4 ABCG8 SEC61A1 IL2RB HPRT1 SEC24C TRAPPC2 HLA-B MVK TF STAT4 FGFR3 NLRP3 RREB1 MMP2 COL2A1 FBN1 MMP14 EXT1 CFI APOE HJV ARVCF MLX STAT4 GCH1 ANKH HLA-C COL2A1 TBX1 HGD F9 ACAN HPRT1 LRBA IL2RA UMOD COMP PRPS1 MYH14 GJB6 PRG4 OCRL ADAR UFSP2 MMP13 JMJD1C UFD1 CCR6 ANKH IL6 LMX1B RAG1 HPRT1 PSTPIP1 HNF1B DNASE1L3 MATN3 KIF7 SPP1 G6PC PHEX SPTB PTPN2 LRRC8A COL9A2 PTPN22 CD244 IGHM NLRP3 CD79A IGLL1 MATN3 CD79B PRKCD HOXD10 COMP ACP5 MTHFD1 MIR140 BLNK HLA-DRB1 SLCO2A1 RASGRP1 ANKRD55 CAV1 HLA-B COL5A2 PFKM NLRP3 BTK IL10 PIK3CD GLA COL9A1 SLC4A1 MEFV FCGR2A RNF168 RAG2 COL11A1 PTPN2 GDF5 AIP COL1A1 COL5A1 SLC12A3 SLC22A4 FASLG MEFV CD247 SH3KBP1 EXT2 COL2A1 F8 CLCNKB DNASE1 MEFV STAT3 IL2RA TRPS1 HPGD CLCN7 IFIH1 BTK HLA-DRB1 KIF22 ANKRD55 NOD2 TRAPPC2 WIPF1 ACAN MATN3 HNF4A FAS HGD ASPN RNASEH2A COMT TBX1 HPGD ASAH1 LACC1 DNAJB11 PSMB9 MEFV FAS FAS COL2A1 UBAC2 LMNA LBR FRZB MUC1 SLC40A1 STAT4 STAT4 ADA2 TRPV4 SMAD3 CD247 HLA-B ACAN PHEX RNASEH2C SLC37A4 VPS13A SPTA1 ASAH1 MYD88 MIF ACP5 PSMB4 TLR4 TNFRSF11B IRAK1 CCN2 MMP13 CLCN7 CCN6 COPA ZNF687 ERAP1 TREX1 IL2RB TNFRSF1A COMP CTLA4 C4A COL2A1 TREX1 BTK UFSP2 IL12B AGA RNASEH2B DCLRE1C ATP7B LRP6 ANK1 FOXP3 HNF1B COL1A1 WAS KNSTRN PTPN22 COL11A2 ZMPSTE24 MVK COL9A1 TCF3 IL12A COL11A2 PSTPIP1 GNAS NOD2 COMP SAMHD1 IRF5 COL9A3 IL10 CCR1 SLC26A2 HIRA GHR PIK3R1 COL9A2 HPRT1 EPCAM TFR2 COL9A3 IL36RN COL2A1 EPB42 COL11A2 GPR101 COL3A1 CCN6 ATP7B IL23R NFKBIL1 SMAD3 CTLA4 PTPN22 UMOD CIITA HPGD CASP10 PTPN22 CANT1
Protein Mutations 4
A147T N363S R620W V600E