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. Author manuscript; available in PMC: 2018 Dec 1.
Published in final edited form as: Hum Mutat. 2017 Sep 14;38(12):1684–1699. doi: 10.1002/humu.23315

Table 1. Functional and molecular analysis of cells from 95 patients with primary carnitine deficiency.

Carnitine transport activity was measured in fibroblasts from subjects referred for possible primary carnitine deficiency (Figure 1) and expressed as percent of normal activity. The 10 exons and flanking regions of the SLC22A5 gene encoding the OCTN2 carnitine transporter were sequenced and subjected to deletion/duplication analysis in patients whose fibroblasts had <20% of normal transport activity (transport activity is reported in the second column). Variations from the standard sequence (NM_003060.2) are reported in columns 3–10. No causative variants were identified in 16% of the alleles (NOT FOUND).

Pt # Transport activity % of control ALLELE 1 cDNA PROTEIN ALLELE 2 cDNA PROTEIN ADDITIONAL VARIANT
1 0.0 c.12C>G p.Tyr4* c.12C>G p.Tyr4*
2 0.1 c.865C>T p.Arg289* c.865C>T p.Arg289*
3 0.1 c.458_459del p.Val153Alafs*41 c.844C>T p.Arg282*
4 0.2 c.1202_1203insA p.Tyr401* c.1302del p.Gly435fs*24
5 0.2 c.844C>T p.Arg282* c.844C>T p.Arg282*
6 0.3 c.740C>G p.Pro247Arg c.740C>G p.Pro247Arg
7 0.3 c.64_66del p.Phe22del c.64_66del p.Phe22del
8 0.3 c.254_264dup p.Ile89Glyfs*45 c.254_264dup p.Ile89Glyfs*45
9 0.3 c.1319C>T p.Thr440Met c.1319C>T p.Thr440Met
10 0.4 c.248G>T p.Arg83Leu c.248G>T p.Arg83Leu
11 0.5 c.760C>T p.Arg254* c.760C>T p.Arg254*
12 0.5 c.844C>T p.Arg282* c.3G>T p.Met1Leu
13 0.5 c.12C>G p.Tyr4* c.12C>G p.Tyr4*
14 0.5 c.839C>T p.Ser280Phe c.1463G>A p.Arg488His c.424G>T p.Ala142Ser
15 0.6 c.506G>A p.Arg169Gln c.506G>A p.Arg169Gln
16 0.7 c.1392_1409delinsCA p.Val465Thrfs*29 c.1392_1409delinsCA p.Val465Thrfs*29
17 0.9 c.458_459del p.Val153Alafs*41 c.865C>T p.Arg289*
18 0.9 c.760C>T p.Arg254* c.760C>T p.Arg254*
19 0.9 c.760C>T p.Arg254* c.760C>T p.Arg254*
20 1.0 c.565_568del p.Phe189Argfs*14 c.1316T>G p.Val439Gly
21 1.0 c.1340A>G p.Tyr447C c.1340A>G p.Tyr447Cys
22 1.0 c.768G>A p.Trp256* c.1403C>G p.Thr468Arg
23 1.0 c.825G>A p.Trp275* c.1267+3_1267+23del
24 1.1 c.505C>T p.Arg169Trp c.1051T>C p.Trp351Arg
25 1.1 c.1193C>T p.Pro398Leu c.839C>T p.Ser280Phe
26 1.2 c.1319C>T p.Thr440Met c.1463G>A p.Arg488H c.424G>T p.Ala142Ser
27 1.3 c.344A>G p.Asp115Gly c.344A>G p.Asp115Gly c.283C>G p.Leu95Val c.283C>G p.Leu95Val
28 1.4 c.844C>T p.Arg282* c.1463G>A p.Arg488His c.424G>T p.Ala142Ser
29 1.5 c.1193C>T p.Pro398Leu c.557T>C p.Leu186Pro c.1645C>T p.Pro549Ser
30 1.5 c.506G>C p.Arg169Pro c.1088T>C p.Leu363Pro
31 2.0 c.902C>A p.Ala301Asp c.902C>A p.Ala301Asp
32 2.0 c.760C>T p.Arg254* c.1400C>G p.Ser467Cys
33 2.1 c.248G>T p.Arg83Leu c.248G>T p.Arg83Leu
34 2.2 c.629A>G p.Asn210Ser c.1463G>A p.Arg488His c.424G>T p.Ala142Ser
35 2.2 c.56G>C p.Arg19Pro c.254_264dup p.Ile89Glyfs*45
36 2.5 c.136C>T p.Pro46Ser c.760C>T p.Arg254*
37 2.8 c.1196G>A p.Arg399Gln c.1463G>A p.Arg488His c.424G>T p.Ala142Ser
38 2.8 c.725G>T p.Gly242Val c.725G>T p.Gly242Val
39 2.8 c.844C>T p.Arg282* c.136C>G p.Pro46Ser
40 2.9 c.847T>A p.Trp283Arg c. 847T>A p.Trp283Arg
41 2.9 c.43G>T p.Gly15Trp c.248G>T p.Arg83Leu
42 3.0 c.760C>T p.Arg254* c.760C>T p.Arg254*
43 3.2 c.505C>T p.Arg169Trp c.505C>T p.Arg169Trp
44 3.3 c.1196G>A p.Arg399Gln c.1196G>A p.Arg399Gln
45 3.3 c.695C>T p.Thr232Met c.1403C>G p.Thr468Arg
46 3.4 c.136C>T p.Pro46Ser c.1556_1559dup p.Ile521Hisfs*3
47 3.4 c.232delC p.His79Thrfs*51 c.232delC p.His79Thrfs*51
48 3.5 c.248G>T p.Arg83Leu c.641C>T p.Ala214Val
49 3.8 c.254_264dup p.Ile89Glyfs*45 c.1385G>T p.Gly462Val
50 3.8 c.845G>A p.Arg282Gln c.845G>A p.Arg282Gln
51 4.0 c.695C>T p.Thr232Met NOT FOUND
52 4.0 c.136C>G p.Pro46Ser c.1463G>A p.Arg488His c.424G>T p.Ala142Ser
53 4.2 c.136C>G p.Pro46Ser c.1556_1559dup p.Ile521Hisfs*3
54 4.2 c.1354G>A p.Glu452Lys c.1354G>A p.Glu452Lys
55 4.3 c.77G>A p.Ser26Asn c.845G>A p.Arg282Gln
56 4.3 c.232delC p.His79Thrfs*51 c.1342G>T p.Val448Leu c.641C>T p.Ala214Val
57 4.8 c.95A>G p.Asn32Ser c.136C>G p.Pro46Ser
58 4.9 c.1324_1325GC>AT p.Ala442Ile c.1324_1325GC>AT p.Ala442Ile
59 5.0 c.1462C>T p.Arg488Cys c.1462C>T p.Arg488Cys
60 5.3 Exon 3 deletion p.Phe167Aspfs*61 NOT FOUND c.394-16T>A
61 5.5 c.695C>T p.Thr232Met c.695C>T p.Thr232Met
62 5.6 c.136C>T p.Pro46Ser c.695C>T p.Thr232Met
63 5.6 c.136C>T p.Pro46Ser c.1463G>A p.Arg488His c.424G>T p.Ala142Ser
64 5.7 c.844C>T p.Arg282* NOT FOUND c.824+13T>C
65 5.7 c.136C>T p.Pro46Ser c.1193C>T p.Pro398Leu
66 5.8 c.1319C>T p.Thr440Met c.453G>A p.Val151Val
67 5.9 c.1319C>T p.Thr440Met NOT FOUND
68 6.3 c.136C>T p.Pro46Ser c.523G>A p.Val175Met
69 7.0 c.458_459del p.Val153Alafs*41 NOT FOUND
70 7.2 c.137C>T p.Pro46Leu c.1175_1177del p.Leu394del
71 7.4 c.1195C>T p.Arg399Trp c.653-2A>C c.653-2A>C
72 7.5 c.865C>T p.Arg289* NOT FOUND
73 8.5 c.248G>T p.Arg83Leu c.641C>T p.Ala214Val
74 8.9 c.43G>T p.Gly15Trp NOT FOUND
75 9.0 c.453G>A p.Val151Val Exon 3 deletion p.Phe167Aspfs*61
76 9.1 c.136C>T p.Pro46Ser NOT FOUND
77 9.6 NOT FOUND NOT FOUND c.1441G>T p.Val481Phe
78 11.1 c.136C>T p.Pro46Ser NOT FOUND
79 11.1 NOT FOUND NOT FOUND c.1451G>T p.Gly484Val
80 11.7 NOT FOUND NOT FOUND
81 12.4 c.806delT p.Leu269Argfs*26 c.1345T>G p.Tyr449Asp
82 13.7 c.839C>T p.Ser280Phe NOT FOUND
83 13.9 NOT FOUND NOT FOUND
84 14.0 c.505C>T p.Arg169Trp NOT FOUND
85 14.0 c.419G>A p.Trp140* NOT FOUND
86 14.3 c.51C>G p.Phe17Leu NOT FOUND
87 15.0 NOT FOUND NOT FOUND
88 16.2 c.641C>T p.Ala214Val c.641C>T p.Ala214Val
89 16.8 c.393G>C p.Glu131Asp NOT FOUND
90 16.9 NOT FOUND NOT FOUND
91 17.7 c.1202_1203insA p.Tyr401* NOT FOUND
92 17.8 c.136C>T p.Pro46Ser NOT FOUND
93 17.9 c.1193C>T p.Pro398Leu NOT FOUND
94 18.7 c.458_459del p.Val153Alafs*41 NOT FOUND
95 19.4 c.1193C>T p.Pro398Leu NOT FOUND