PSTPIP1 (NM_003978.3) sequence variants

Editor(s): Carol WISE   

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Total current number of sequence variants for PSTPIP1 : 27

The two mutations in the PSTPIP1 gene responsible for PAPA syndrome were originally described as 904G>A and 964G>C, using a numbering system beginning with the 5' untranslated sequences. We have now changed these notations to c.688G>A and c.748G>C, respectively, to reflect numbering beginning at the translation initiation site. c.688G>A (formerly 904G>A) and c.748G>C (formerly 964G>C) correspond to amino acid changes p.Ala230Thr and p.Glu250Gln, respectively.

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

Usual name*
HGVS sequence name
HGVS protein name
Simple variant
Complex alleles
M2Texon 1c.5T>Cp.Met2Thr
c.137+47G>Cintron 2c.137+47G>C-
R52Qexon 3c.155G>Ap.Arg52Gln
G543Aexon 8c.543G>Ap.(=)
V122Iexon 6c.364G>Ap.Val122Ile
A230Texon 10c.688G>Ap.Ala230Thr
D246Nexon 10c.736G>Ap.Asp246Asn
c.741+27 G>Tintron 10c.741+27 G>T-
c.741+33_741+34insGTintron 10c.741+33_741+34insGT-
E250Qexon 11c.748G>Cp.Glu250Gln
E250Kexon 11c.748G>Ap.Glu250Lys
E257Kexon 11c.769G>Ap.Glu257Lys
E256Gexon 11c.770A>Gp.Glu257Gly
G258Aexon 11c.773G>Cp.Gly258Ala
D266Nexon 11c.796G>Ap.Asp266Asn
E277Dexon 11c.831G>Tp.Glu277Asp
D289Hexon 12c.865G>Cp.Asp289His
C915Texon 12c.915C>Tp.(=)
c.986-33dupAintron 13c.986-33dupA-
Val344Ileexon 14c.1030G>Ap.Val344Ile
c.1120-44_1120-31intron 14c.1120-44_1120-31-
D384Gexon 15c.1151A>Gp.Asp384Gly
G1179Aexon 15c.1179G>Ap.(=)
G403Rexon 15c.1207G>Cp.Gly403Arg
G403Eexon 15c.1208G>Ap.Gly403Glu
R405Cexon 15c.1213C>Tp.Arg405Cys