Table 8.

HSPB8 mutations causing neuromuscular disease.

Mutation 1	Phenotype 2	Self-Interaction	HSPB1 Interaction	CRYAB Interaction	BAG3 Interaction	In Vitro Chaperone Act.	In Vivo Chaperone Act.	Aggregation	Cytotoxicity	References
P90L	NP				=			(–)	(+)	[337]
N138T	NP				=			(–)	(+)	[337]
K141E	NP/NMP	+	+	+	(–)	+/–	–	+	++	[20,397,411,433,435,438]
K141M	NP				+			(–)	(+)	[337]
K141T	NP									[437]
K141N	NP	++	++	+	+/–		–	+/(–)	+	[20,337,396,397,411,433,435,448]
Q170Gfs*45	MP									[439]
P173Sfs*43	NMP									[438]

¹ Reference sequence NP_055180.1; ² NP, neuropathy; MP, myopathy; NMP, neuromyopathy.