Table 3

Summary of DNA variants observed within the coding sequence of the NRIP1 gene.

DNA variant*
Amino acid Substitution (change in codon)
dbSNP** accession number
Detection in Endometriotic tissue samples (40 chromosomes)
Detection in germline DNA derived from endometriosis patients (118 chromosomes)
Detection in controls (282 chromosomes)
Status

Nt c.512 G->A
None [Gly75] (ggg to gga)
rs2229741
15/40
57/118
129/282
Common polymorphism
Nt c.949 A->G
His221Arg (cat to cgt)
-
1/40
1/118
3/282
Common polymorphism
Nt c.1608 A->G
Ile441Val (ata to gta)
-
0/20
0/118
4/282
Common polymorphism
Nt c.1629 C->G
Arg448Gly (cga to gga)
rs2229742
9/40
16/118
19/282
Common polymorphism
Nt c.2695 C->T
Ser803Leu (tcg to ttg)
-
2/40
3/118
10/282
Common polymorphism
Nt c.3522 G->T
Val1079Phe (gtt to ttt)
-
1/40
1/118
0/282
Rare Variant/Mutation

*In accordance with genbank number NM_003489.
** dbSNP: the Single Nucleotide Polymorphism Database at the National Centre for Biotechnology Information (NCBI) http://www.ncbi.nlm.nih.gov/