SNPMiner Trials by Shray Alag

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V1180L (1) V774A (1) T377M (1) V689M (1) V774M (1) D164V (1) L387M (1) R199W (1) N86S (1) M694V (1) N86Y (1) G11053T (1) R175H (1) T17M (1) Y86N (1) A2144G (1) A2059G (1) N345K (1) D50W (1) I180V (1) A864V (1) L24E (1) V118I (1) G212S (1) I843S (1) N1303K (1) R1623Q (1) A1033V (1) L1198F (1) N1325S (1) Q812R (1) V773M (1) G212A (1) A997T (1) S241T (1) E167K (1) G1764A (1) G80A (1) E62D (1) E274Q (1) M34T (1) G401S (1) A2142C (1) G1631D (1) G211A (1) D76Y (1) D76N (1) E384G (1) V249I (1) M1106C (1) L234I (1) L101I (1) A2143C (1) K806E (1) A687V (1) A119S (1) P1028S (1) A313G (1) D824V (1) S9C (1) C182A (1) S9G (1) S153F (1) S1900E (1) S1900D (1) S1900C (1) R1644H (1) S1900A (1) R702W (1) T1456G (1) T1565C (1) E1021K (1) K15210D (1) G779C (1) G82S (1) G779F (1) G840A (1) V18M (1) A27L (1) L28M (1) T351I (1) K121Q (1) L28P (1) H180Q (1) G779S (1) M11T (1) M11Q (1) P549S (1) N215S (1) G60D (1) R352W (1) G623R (1) G84E (1) E161K (1) G951A (1) C23S (1) E184K (1) V1206L (1) Y842C (1) V736A (1) L432V (1) E89Q (1) R135W (1) Y253F (1) G843D (1) D820Y (1) F77L (1) S311C (1) D10W (1) Y143H (1) G86R (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) P46L (1) N700D (1) A5147S (1) E21G (1) Y822D (1) Q260A (1) Y188H (1) R131H (1) R1070Q (1) C316N (1) T81C (1) T1304M (1) I167V (1) I82A (1) D13H (1) Q54H (1) Q30H (1) L239R (1) Y823D (1) T117S (1) I84T (1) A222V (1) L106V (1) K432Q (1) G163S (1) I1370K (1) G163E (1) K650E (1) E757A (1) R399Q (1) G41S (1) C1895T (1) P392L (1) T334G (1) H274Y (1) R399G (1)

SNPMiner SNPMiner Trials (Home Page)


Report for Mutation R620W

Developed by Shray Alag, 2020-2021.
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 273
NLRP3 PSMB4 ACP5 SLC37A4 PTPN22 MIR140 LMNA HGD COL1A1 MMP13 FRZB MMP14 COL9A3 NTRK1 ARVCF PTPN22 LMX1B HPRT1 GBA HLA-C PFKM ABCG8 TNFRSF1A IL2RB RREB1 NLRP3 HPGD TF BTK JMJD1C COPA COL2A1 PIK3CD EXT1 COMP TBX1 IL12B STAT4 TNFRSF11B IL10 TBX1 GJB6 LRP6 IL2RA TRPV4 MUC1 WIPF1 COMP MMP13 GJB2 PSTPIP1 RNASEH2C HPRT1 DCLRE1C HIRA GP1BB TRAPPC2 IRF5 IL6 ATP7B EPCAM CLCN7 SEC24C HJV IL36RN COL3A1 KIF7 SLC37A4 GHR NLRP12 STAT4 SPTA1 MLX COL11A1 SLC40A1 HPGD PTPN2 SMAD3 IGLL1 COL9A1 PTPN22 SLC22A4 FGFR3 COL2A1 UMOD CCN6 IDS TCF3 PRPS1 IGHM MYH14 CD79A PIK3R1 FASLG COL1A1 HNF1B CD79B NLRP3 ASAH1 HLA-DRB1 PRKCD ANKRD55 HLA-B COL5A1 CCR6 DNAJB11 COL2A1 MATN3 IL23R KNSTRN GLA F8 PTPN22 RAG1 RNF168 COL5A1 PTPN2 COL11A2 TREX1 TFR2 COL11A2 SLC26A2 UMOD SLC12A3 FAS CD247 EPB42 VPS13A EXT2 NOD2 COL11A2 CLCN7 NOD2 HGD ZNF687 CLCNKB FCGR2B TLR4 IL2RA MVK COMP CTLA4 TREX1 MEFV CAV1 IFIH1 ANKRD55 WAS AGA MATN3 NLRP3 CFI FAS COL9A2 SAMHD1 UFD1 SH3KBP1 HNF1B ASAH1 LACC1 G6PC1 TNFRSF1A MEFV TRAPPC2 CASP10 ANKH STAT4 UFSP2 TRPV4 SMAD3 COL2A1 MYD88 GPR101 IRAK1 C4A HPRT1 ZMPSTE24 ACAN STAT4 CCR1 GCH1 UBAC2 BTK HFE CD247 AIP HPGD MEFV ACAN UFSP2 RNASEH2B FAS PSMB9 MTHFD1 COL2A1 GDF5 PSTPIP1 SLC4A1 RAG2 PADI4 OCRL PHEX COL9A1 COL9A3 MIF ANKH ERAP1 KIF22 SCARB2 SPP1 CANT1 MMP2 ADA2 LBR HLA-DRB1 PTPN22 FOXP3 PRPS1 CCN6 ADAR IL2RB NLRP3 GNAS COMP COL2A1 HPRT1 FBN1 KLRC4 DNASE1 ACP5 PHEX HLA-B RNASEH2A LEMD3 HOXD10 SPTB BTK HNF4A DNASE1L3 RASGRP1 ATP7B IL10 ASPN HLA-DRB1 PRKCD MVK LRRC8A IL12A-AS1 APOE ACAN LRBA AEBP1 CCN2 CIITA COMT BLNK SEC61A1 COL9A2 ANK1 COL5A2 CTLA4 PRG4 MATN3 IL12A CD244 TGFB3 FCGR2A F9 NFKBIL1 SLCO2A1 TRPS1 HLA-B IDS
Protein Mutations 4
A147T N363S R620W V600E