Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs2476601

Hard Link
rs2476601 is a snp on gene PTPN22 (protein tyrosine phosphatase, non-receptor type 22 (lymphoid))

GenePTPN22 Chromosome number 1 Chromosome position 113834946
Alleles A/G Minor Allele A Minor Allele Frequency 0.0274
Notation 1858C>T, R620W, Arg620Trp, VNTR Clinical significance Orientation (dbSNP) + (positive/forward strand)
SNP Function
Missense mutation resulting in gain of function.
Gene Function
The PTPN22 gene provides instructions for making a protein that belongs to the PTP (protein tyrosine phosphatases) family. PTP proteins play a role in regulating a process called signal transduction. In signal transduction, the protein relays signals from outside the cell to the cell nucleus. These signals instruct the cell to grow and divide or to mature and take on specialized functions. The PTPN22 protein is involved in signaling that helps control the activity of immune system cells called T cells. T cells identify foreign substances and defend the body against infection. Studies have associated the R620W variation in the PTPN22 gene with an increased risk of vitiligo, an autoimmune condition that results in patchy changes in skin coloring (pigmentation). As with other autoimmune disorders, this variation likely affects the activity of the PTPN22 protein, making it more difficult for the body to control the immune system and prevent it from attacking its own tissues. While the pigment loss associated with vitiligo results from the immune system attacking pigment-producing cells (melanocytes) in the skin, it is unclear what specific circumstances trigger the immune system to do so. The condition probably results from a combination of genetic and environmental factors, most of which have not been identified. Studies have associated a variation in the PTPN22 gene with an increased risk of several autoimmune disorders. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. These disorders include type 1 diabetes, rheumatoid arthritis, autoimmune thyroid disease, and systemic lupus erythematosus. The PTPN22 gene variation associated with autoimmune disorders changes the protein building block (amino acid) arginine to the amino acid tryptophan at position 620 in the PTPN22 protein sequence, written as Arg620Trp or R620W. This variation likely affects the activity of the PTPN22 protein, making it more difficult for the body to control inflammation and prevent the immune system from attacking its own tissues.
GWAS Pathologies
Rheumatoid arthritis (?) ~ Rheumatoid arthritis (?) ~ Rheumatoid arthritis (A) ~ Rheumatoid arthritis (A) ~ Myasthenia gravis (A) ~ Myasthenia gravis (A) ~ Type 1 diabetes autoantibodies (A) ~ Type 1 diabetes autoantibodies (A) ~ Rheumatoid arthritis (?) ~ Rheumatoid arthritis (?) ~ Crohn's disease (G) ~ Crohn's disease (G) ~ Rheumatoid arthritis (A) ~ Rheumatoid arthritis (A) ~ Vitiligo (A) ~ Vitiligo (A) ~ Rheumatoid arthritis (?) ~ Rheumatoid arthritis (?) ~ Type 1 diabetes (?) ~ Type 1 diabetes (?) ~ Crohn's disease (G) ~ Crohn's disease (G) ~ Rheumatoid arthritis (?) ~ Rheumatoid arthritis (?) ~ Type 1 diabetes (A) ~ Type 1 diabetes (A) ~ Type 1 diabetes (T) ~ Type 1 diabetes (T)
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

CURATED




GWAS Curated

CURATED





MOST RECENT SEARCHES:
rs3733890 (BHMT) | rs211105 (TPH1) | rs12760457 (PTPN22) | rs75472618 (PLCG2) | rs187956469 (PLCG2) | rs36049418 (SLC12A3) | rs2687116 (CYP3A4) | rs140310 (GSTT1) | rs10857796 (GSTM1) | rs123 (OSBPL3) | rs806368 (CNR1)

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rs1799941 (SHBG) | rs1801133 (MTHFR) | rs9939609 (FTO) | rs1801181 (CBS) | rs6025 (F5) | rs4680 (COMT) | rs2075252 (LRP2) | rs20541 (IL13) | rs2235544 (DIO1) | rs2569191 (CD14) | rs2844682 ()








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