. 2014 Oct 23;1:14018. doi: 10.1038/hgv.2014.18

Table 2. The affected protein domains, mutation type, and clinical phenotypes of the patients with STUB1 mutations as indicated in Figure 1a are provided^9,18–21 .

#	Affected domain (s)	Type	Tendon reflex	Cognitive impairment	Hypogonadism	Reference
1	TPR	CHet	Increased	No	No	²⁰
2	TPR	Hom	Normal	No	No	²⁰
3	TPR; charged	CHet	Normal	No	Not reported	¹⁸
4	Charged; U-box	CHet	Increased	Severe	No	¹⁹
5	Charged	Hom	Normal/increased	Normal/mild	Not reported	¹⁸
6	Intron; U-box	CHet	Increased	Severe	Not reported	²¹
7	Charged; U-box	CHet	Increased	Normal	Not reported	¹⁸
8	U-box	Hom	Normal	Severe	No	²⁰
9	U-box	Hom	Normal/increased	Severe	Yes	⁹

‘CHet’ and ‘Hom’ refer to compound heterozygous and homozygous mutations, respectively.

Abbreviation: TPR, tetratricopeptide repeat.

Table 2. The affected protein domains, mutation type, and clinical phenotypes of the patients with STUB1 mutations as indicated in Figure 1a are provided9,18–21 .