Skip to main content

Table 1 Sequence differences between azoospermic patients and matched controlsa

From: Alterations in the steroid hormone receptor co-chaperone FKBPL are associated with male infertility: a case-control study

Mutation Type Alteration Locationb Frequency
1 Base change Synonymous 32205968 0 Japanese patients,c
12 controls
2 Base change Synonymous 32205869 10 Japanese patients,d
0 controls
2f Base change Synonymous (as above) 8 Irish patients,e
1 control
3 Splice site Loss of function 32205611 1 Japanese patient,
0 controls
4 Base change Asn=>Ser 32205453 1 Irish patient,
0 controls
5 Base change Thr=>Arg 32205391 1 Irish patient,
0 controls
6 Insertion 4AA duplication 32205307 1 Japanese patient,
0 controls
  1. aGroup sizes: Japanese patients (n = 60) and Japanese controls (n = 56); Irish patients (n = 30) and Irish controls (n = 30).
  2. bLocation given with respect to the International Human Genome Sequencing Consortium March 2006 human reference sequence (NCBI Build 36.1).
  3. cProbability p <0.001; d p = 0.0014, e p = 0.026 by Fisher's exact test, see also methods
  4. fListed twice, as the frequencies and associated probabilities differ in the two populations