Homo sapiens myotubularin (MTM1): Original Table


TABLE 1. Summary of MTM1 Mutations in 50 North American Patients


Fam Mother


Patienta Hxb Exon Mutationc Amino acid Uniqued Severitye carrierf Notes


Missense mutations (16)


1 U 2 c.2T>G M1R + S Patient 5 in Herman et al. [1999]


2 U 4 c.145G>T V49F + S


3 No 4 c.205C>T R69C 4 Mg Yes


4 No 8 c.535C>T P179S 1 M


5 U 8 c.557C>T T186I + ?S


6 No 8 c.614C>T P205L 5 ?S No


8 ?U 9 c.679G>A V227M 1 Mg


9 No 9 c.683T>C L228P + Mo Yes


10 No 9 c.721C>T R241C 8 M Yes


11 S 9 c.836C>G A279G + S


12 No 11 c.1132G>A G378R 2 S Yes


13 ? 11 c.1172T>C L391P + ?


14 No 11 c.1190A>G Y397C 3 S Yes


15 No 11 c.1204G>A G402R 1 S No


16 ?No 12 c.1262G>A R421Q 5 S


Nonsense mutations (9)


17 No 3 c.85C>T R29X 2 S Yes


18 U 3 c.109C>T R37X 6 Mo


19 No 4 c.142G>T E48X 1 Mo Yes Patient 12 in Herman et al. [1999]


20 No 4 c.181G>T G61X + S Yes


23 U 12 c.1261C>T R421X 5 S


24 U,S 13 c.1420C>T R474X 3 S


25 No 13 c.1456C>T R486X 1 S Yes Patient 32 in Herman et al. [1999]


Splicing mutations (12)


26 No Intron 2 c.63+2T>C Donor splice site, exon 2 skippingh + M Yes Patient 4 in Herman et al. [1999]


27 No Intron 2 c.64-2A>G Acceptor splice site + S Yes


28 S Intron 3 c.137-7T>G Exon 4 skippingh + Mo Patient 6 in Herman et al. [1999]


29 No Intron 4 c232-3C>A Acceptor splice site + S Yes


30 ? Intron 4 c.232-2A>C Acceptor splice site + ?


31 No Intron 7 c.528+1G>A Donor splice site, frameshift 149i 2 S Yes Patient 18 in Herman et al. [1999]


34 U,S Intron 11 c.1261-10A>G FIQ420-421ins 16 S


35 No Intron 12 c.1353+1G>A Donor splice site 1 S Yes


36 No Intron 12 c.1354-1G>A Acceptor splice site + Mo Yes Patient 33 in Herman et al. [1999]


37 No Intron 13 c.1467+1G>A Donor splice site + S Yes


Fam Mother Patienta Hxb Exon Mutationc Amino acid Uniqued Severitye carrierf Notes


Small deletions/insertions (10)


38 U 3 c.106delC Frameshift 36 + S


39 ?U 4 c.141-142insG Frameshift 48 + S


40 No 7 c.465delT Frameshift 155 + S Yes


41 ?U 7 c.469delG Frameshift 157 + S


42 S 8 c.593-594insA Y198X + S


43 No 7 c.445-1insGAAA Frameshift 149h + S Yes Patient 19 in Herman et al. [1999]


44 No 8 c.601delT Frameshift 202 + S Yes


45 No 10 c.969insA Frameshift 322-324 1 S


46 U 10 c.1015insT Frameshift 339 + S


47 No 15 c.1789delC Frameshift 598 + M Yes Patient 35 in Herman et al. [1999]



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