Table 1.

Characteristics of BICD2 Mutations Identified in Six Kindreds Affected by DCSMA, HSP, or DCSMA+UMN

Family	Phenotypea	Age of Onset	Number Affected	Nucleic Acid Mutation	Amino Acid Alteration	PolyPhe-2 Score	PolyPhen-2 Conservationb
AUS1	DCSMA	birth	6	c.320C>T	p.Ser107Leu	0.999	39/40
AUSTRIA1	DCSMA	birth	5	c.320C>T	p.Ser107Leu	0.999	39/40
USA1	DCSMA+UMN	birth	4	c.320C>T	p.Ser107Leu	0.999	39/40
UK2	DCSMA+UMN	birth	1	c.565A>T	p.Ile189Phe	1.00	44/44
UK1	DCSMA+UMN	birth	6	c.1502G>C	p.Arg501Pro	0.98	34/44
GERMANY1	HSP	adulthood	4	c.1523A>C	p.Lys508Thr	0.912	32/44

In silico prediction of the functional consequences of the six mutations was performed with PolyPhen-2, and all six mutations were compared against the NHLBI Exome Sequencing Project Exome Variant Server for confirmation of novelty.

^aDCSMA+UMN indicates that UMN features were present in at least one family member.

^bThe numerator indicates the number of species conserved for the unaltered amino acid at this location, and the denominator indicates the number of species for which the amino acid sequence is known at this location (according to PolyPhen-2 data).