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. 2015 May 30;4:e06602. doi: 10.7554/eLife.06602

Table 1.

All alleles identified in KIAA0586 causative for Joubert syndrome

DOI: http://dx.doi.org/10.7554/eLife.06602.011

Table 1—source data 1.
Chromatograms of mutations in the KIAA0586 gene identified in the additional cohort of Mediterranean individuals with Joubert syndrome.
DOI: http://dx.doi.org/10.7554/eLife.06602.012
elife06602s001.tif (32.5MB, tif)
DOI: 10.7554/eLife.06602.012
Allele 1 (based on T1) Allele 2 (based on T1)
Patient ID Genotype Genomic DNA Protein Genomic DNA Protein
MTI-233 M1/M2 g.58899157del c.428del p.Arg143Lysfs*4 g.58915212G>A c.1120+1G>A p.Thr323Hisfs*3
MTI-103 M1/M3 g.58899157del c.428del p.Arg143Lysfs*4 g.58923419G>C c.1413-1G>C p.Arg472Serfs*2
MTI-165 M1/M4 g.58899157del c.428del p.Arg143Lysfs*4 g.58896138T>C c.2T>C (based on T4-T5) p.Met1? (based on T4-T5)
MTI-1944 M1/M5 g.58899157del c.428del p.Arg143Lysfs*4 g.?_58923420_58938997_?del c.1413-?_2793+?del p.?
MTI-505 M6/M6 g.58934452G>C c.2414-1G>C p.? g.58934452G>C c.2414-1G>C p.?
COR354 M7/M7 g.58895020del c.74del p.Lys25Argfs*6 g.58895020del c.74del p.Lys25Argfs*6
Mediterranean cohort analysis
NG2872 M1/M1 g.58899157del c.428del p.Arg143Lysfs*4 g.58899157del c.428del p.Arg143Lysfs*4
NG4158 M1/M8 g.58899157del c.428del p.Arg143Lysfs*4 g.58909503C>T c.649C>T p.Gln217*
NG2326 M1/M9 g.58899157del c.428del p.Arg143Lysfs*4 g.58910790_58910791del c.863_864del p.Gln288Argfs*7
NG1776 M1/M9 g.58899157del c.428del p.Arg143Lysfs*4 g.58910790_58910791del c.863_864del p.Gln288Argfs*7
NG3928 M1/M10 g.58899157del c.428del p.Arg143Lysfs*4 g.58915097C>T c.1006C>T p.Gln336*
NG2458 M1/M11 g.58899157del c.428del p.Arg143Lysfs*4 g.58924613_58924616delinsAAA c.1658_1661delinsAAA p.Val553Glufs*79
NG2286 M1/M12 g.58899157del c.428del p.Arg143Lysfs*4 g.58925263G>A c.1815G>A p.= / p.?
NG1485 M1/M13 g.58899157del c.428del p.Arg143Lysfs*4 g.58927869C>T c.2209C>T p.Arg737*
NG3758 M1/M14 g.58899157del c.428del p.Arg143Lysfs*4 g.58953883del c.3462del p.Gly1155Glufs*40

M; mutation; T; transcript. Table 1—Source data 1 shows chromatograms belonging to the identified mutations in the Mediterranean cohort.