Table 1.

SBP2 gene mutations

SBP2 gene	Protein	Comments on putative defect	No of affected	Defect	Ref
c.1619 G>A	R540Q	hypomorphic allele	3	homozygous	[8]
c.1312 A>T	K438X	missing C terminus	1	compund heterozygous	[8]
IVS8ds+29 G>A	fs	abnormal splicing
c.382 C>T	R128X	smaller isoforms*	1	homozygous	[110]
c.358 C>T	R120X	smaller isoforms*	1	compund heterozygous	[111]
c.2308 C>T	R770X	disrupted C-terminus
c.668delT	F223 fs 255X	truncation and smaller isorforms*	1	compund heterozygous	[112]
intron 6 –155 delC	fs	abnormal splicing, missing C-terminus
c.2071 T>C	C691R	increased proteasomal degradation	1	compund heterozygous	[112]
intronic SNP	fs	transcripts lacking exons 2–4, or 3–4
c.1529_1541dup CCAGCGCCCCACT	M515 fs 563X	missing C terminus	1	compund heterozygous	[113]
c.235 C>T	Q79X	smaller isoforms*
c.2344 C>T	Q782X	missing C terminus	1	compund heterozygous	**
c.2045–2048 delAACA	K682 fs 683X	missing C terminus

^*generated from downstream ATGs;

^**Dumitrescu, A.M. and Refetoff, S, unpublished data

fs – frame shift