. 2007 Aug 6;81(3):519–529. doi: 10.1086/521034

Table 1. .

Overview of Known RMRP Mutations, SNPs, and Other Variants^[Note]

RMRP Alteration	Nationality
RMRP mutation:
g.−26_−5dupTACTACTCTGTGAAGCTGAGAA⁷	American
g.−25_−11dupACTACTCTGTGAAGC⁷	American
g.−25_−11tripACTACTCTGTGAAGC³^,⁸^,⁹	Swiss, English, Turkish
g.−25_−10tripACTACTCTGTGAAGCT³	Italian
g.−25_−6dupACTACTCTGTGAAGCTGAGA⁷	Belgium
g.−25_−5dupACTACTCTGTGAAGCTGAGGA³	German
g.−24_−15dupCTACTCTGTG⁷	American
g.−23_−15dupTACTCTGTG³	French
g.−23_−14dupTACTCTGTGA³^,⁸^,⁹	Finnish, French
g.−23_−4dupTACTCTGTGAAGCTGAGGAC⁷	German
g.−22_−10dupACTCTGTGAAGCT³	French
g.−21_−1dupCTCTGTGAAGCTGAGGACGTG⁷	American
g.−20_−14dupTCTGTGA³^,⁷^,⁸	American
g.−20_−4dupTCTGTGAAGCTGAGGAC³^,⁹^–¹¹	English, Japan, Swiss
g.−16_−7dupTGAAGCTGAG⁸	French
g.−16_−1insCTCTGTGAAGCTGAGG¹⁰	Japan
g.−15_2dupGAAGCTGAGGACGTGGT¹⁰^,¹¹	Japan
g.−14_−7dupAAGCTGAG⁸	Mexican
g.−14_−3dupAAGCTGAGGACG¹²	Swiss/Danish
g.−14_−1dupAAGCTGAGGACGTG⁸	American
g.−13_−1dupAGCTGAGGACGTG⁸	American
g.−8_−1dupAGGACGTG³	Canadian
g.−7_3dupGGACGTGGTT⁸	Brazilian
g.−7_−1insCCTGAG⁹	Finnish, German
g.−4_6insGGACGTGGTT⁸	American
g.4C→T³^,⁸^,¹³	English, German, Spanish
g.9T→C⁷	German
g.14G→T⁷	American
g.14G→A¹	German
g.35C→T³	French
g.40G→A³	Dutch
g.45_53dupTGTTCCTCC³	Dutch
g.57_64insTTCCGCCT⁸	French
g.63C→T³^,⁸^,¹⁴	Australian, Dutch
g.64T→C³	Italian
g.64T→A¹⁵	Chinese
g.70A→G³^,⁷^–⁹^,¹²	Various^a
g.79G→A⁸	American
g.79G→T¹⁵	Chinese
g.80G→A⁷	American
g.89C→G⁷	American
*g.90_91AG→GC*¹	German
g.91G→A⁷	Belgium
g.93G→C³	Dutch
g.92_93insA³	Turkish
g.94_95delAG⁸^,¹⁶	Amish, English
g.97G→A³^,⁷	American
g.96_97dupTG³^,⁸^,⁹	Canadian, Turkish
g.101C→T⁷	Belgium
*g.111_112insACTGTAGACATTCCT*¹	Jordanian
g.116A→G⁷	American
g.118A→G⁸	German
g.124C→T⁷	American
g.126C→T³^,⁸	Arabian, Italian
g.127G→A³	Italian, Canadian
g.146G→A³^,⁸	Chinese, French
g.146G→C³	Italian
g.152A→G⁸	Canadian
g.154G→T⁸	Finnish
g.168G→A¹⁰	Japan
g.180G→A⁷^,⁸	Mexican, American
g.182G→C⁸	Dutch, English
g.182G→A¹⁰^,¹¹	Japan
g.182G→T³^,⁷	German
g.193G→A³^,⁸^,⁹	English, Canadian
g.195C→T³^,⁷^,⁸^,¹² (present article)	Various^b
g.194_195insT⁷^,¹⁴	American
g.211C→G⁷^,⁸	Various^c
g.213C→G³^,⁷	German
g.214A→T⁸	German
g.217C→T¹⁰	Japan
g.218A→G¹⁰^,¹¹	Japan
g.220T→C³	German, Italian
g.230C→T⁸	Polish
g.236A→G⁸	American
g.238C→T³^,⁸^,¹²	Various^d
g.242A→G³^,⁸	Canadian, Brazilian
g.243C→T⁸	Canadian
g.244G→A³	German
g.248C→T³	Canadian
*g.254C→G*¹	German
*g.254_263delCTCAGCGCGG* (present article)	Spanish/Mexican
g.261C→T³^,⁸	Israeli, Trinidad
g.262G→C⁷	German
g.262G→T⁸^,⁹	Finnish
g.264C→A⁸	Austrian
RMRP polymorphism:
g.−58T→C³^,¹¹^,¹²	…
g.−56A→G¹^,³^,¹¹^,¹²	…
g.−48C→A¹^,³^,¹¹^,¹²	…
g.−6G→A¹^,³^,¹¹^,¹²	…
g.127G→C³^,⁷	…
g.156G→C¹^,³^,¹¹^,¹²	…
g.177C→T¹^,³^,¹¹^,¹²	…
g.*7 (272)T→C⁷^,¹²	…
g.*9 (274)T→C¹^,³^,¹¹^,¹²	…
RMRP variant:
g.−24C→G¹²	…
g.36T→G¹¹	…
g.55_56InsC¹¹	…
g.57_58InsA¹²	…
g.162C→T¹¹	…
g.172C→T¹¹	…
g.250C→T¹²	…

Note.— Mutations analyzed in the functional assays in this study are in bold font. Mutations observed in patients with AD are in italics.

Finnish, Swiss/Danish, American, Canadian, Dutch, Turkish, English, Amish, Australian, French, German, Brazilian.

Swiss/Danish, Israeli, Brazilian, Spanish/French.

Finnish, American, Polish, German.

Austrian, Israeli, American, Australian.