Table 2.

Mutations in COL6A3 in Individuals with Isolated Dystonia

Exona	Genomic Position (hg19)	Variation Nucleotidea	Variation Amino Acida	Mutation Type	dbSNP142	Frequency NHLBI-ESP (EA)	Frequency ExAC (European)	SIFT Prediction	PolyPhen-2 Prediction	CADD Prediction12	Affected Individual
36	chr2: 238,253,159	c.7502G>A	p.Arg2501His	missense	rs541928674	not found	0.00001	damaging	probably damaging	22.8	F2-II-2, F2-II-3
36	chr2: 238,253,001	c.7660G>A	p.Ala2554Thr	missense	NA	not found	not found	tolerated	probably damaging	23.4	F3-II-3
41	chr2: 238,243,533	c.8966−1G>C	p.Val2989_Lys3077delinsGlu	canonical splice	NA	not found	0.00003	NA	NA	23.5	F2-II-2, F2-II-3, F3-II-3
41	chr2: 238,243,370	c.9128G>A	p.Arg3043His	missense	rs552651651	not found	0.0003	damaging	benign	13.5	F1-III-1, F1-III-3
42	chr2: 238,242,176	c.9245C>G	p.Pro3082Arg	missense	rs182976977	C = 8/G = 8,592	0.001	tolerated	possibly damaging	15.7	F1-III-1, F1-III-3

Overview of compound heterozygous COL6A3 mutations identified in isolated dystonia cases. In silico predictions of the deleterious potential of the mutations assessed by SIFT, PolyPhen-2, and CADD are shown. A CADD score ≥ 10 indicates that the variant is predicted to be among the 10% most deleterious substitutions that can affect the human genome, a score ≥ 20 indicates that the variant is among the 1% most deleterious.¹² Abbreviations are as follows: NHLBI-ESP, National Heart, Lung, and Blood Institute-exome sequencing project; EA, European American; ExAC, Exome Aggregation Consortium (encompassing ∼33,000 European exomes); NA, not available.

^aNumbering according to NCBI accessions GenBank: NM_004369.3 and NP_004360.2.