(used for variant description)
(last modified October 31, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_002024.5 in the FMR1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007529.1, covering FMR1 transcript NM_002024.5.
(upstream sequence)
. . . . g.5049
acttccggtggagggccgcctctgagcgggcggcgggccgacggcgagc c.-181
. . . . . . g.5109
gcgggcggcggcggtgacggaggcgccgctgccagggggcgtgcggcagcgcggcggcgg c.-121
. . . . . . g.5169
cggcggcggcggcggcggcggaggcggcggcggcggcggcggcggcggcggctgggcctc c.-61
. . . . . . g.5229
gagcgcccgcagcccacctctcgggggcgggctcccggcgctagcagggctgaagagaag c.-1
. . . . . | 02 . g.14991
ATGGAGGAGCTGGTGGTGGAAGTGCGGGGCTCCAATGGCGCTTTCTACAAG | GCATTTGTA c.60
M E E L V V E V R G S N G A F Y K | A F V p.20
. . . . | 03 . . g.18605
AAGGATGTTCATGAAGATTCAATAACAGTTGCATTTGAAAACAA | CTGGCAGCCTGATAGG c.120
K D V H E D S I T V A F E N N | W Q P D R p.40
. . . . . . g.18665
CAGATTCCATTTCATGATGTCAGATTCCCACCTCCTGTAGGTTATAATAAAGATATAAAT c.180
Q I P F H D V R F P P P V G Y N K D I N p.60
. | 04 . . . . g.21413
GAAAGTGATGAAGTTGAG | GTGTATTCCAGAGCAAATGAAAAAGAGCCTTGCTGTTGGTGG c.240
E S D E V E | V Y S R A N E K E P C C W W p.80
. . . | 05 . . . g.21738
TTAGCTAAAGTGAGGATGATAAAGGGTGAG | TTTTATGTGATAGAATATGCAGCATGTGAT c.300
L A K V R M I K G E | F Y V I E Y A A C D p.100
. . . . . . g.21798
GCAACTTACAATGAAATTGTCACAATTGAACGTCTAAGATCTGTTAATCCCAACAAACCT c.360
A T Y N E I V T I E R L R S V N P N K P p.120
. . . . . | 06 g.22999
GCCACAAAAGATACTTTCCATAAGATCAAGCTGGATGTGCCAGAAGACTTACGGCAAAT | G c.420
A T K D T F H K I K L D V P E D L R Q M | p.140
. . . . . . g.23059
TGTGCCAAAGAGGCGGCACATAAGGATTTTAAAAAGGCAGTTGGTGCCTTTTCTGTAACT c.480
C A K E A A H K D F K K A V G A F S V T p.160
. . . | 07 . . . g.23205
TATGATCCAGAAAATTATCAGCTTGTCATTTTG | TCCATCAATGAAGTCACCTCAAAGCGA c.540
Y D P E N Y Q L V I L | S I N E V T S K R p.180
. . . . . . g.23265
GCACATATGCTGATTGACATGCACTTTCGGAGTCTGCGCACTAAGTTGTCTCTGATAATG c.600
A H M L I D M H F R S L R T K L S L I M p.200
. . . | 08 . . . g.25505
AGAAATGAAGAAGCTAGTAAGCAGCTGGAG | AGTTCAAGGCAGCTTGCCTCGAGATTTCAT c.660
R N E E A S K Q L E | S S R Q L A S R F H p.220
. . . . . . g.25565
GAACAGTTTATCGTAAGAGAAGATCTGATGGGTCTAGCTATTGGTACTCATGGTGCTAAT c.720
E Q F I V R E D L M G L A I G T H G A N p.240
. . . . . . g.25625
ATTCAGCAAGCTAGAAAAGTACCTGGGGTCACTGCTATTGATCTAGATGAAGATACCTGC c.780
I Q Q A R K V P G V T A I D L D E D T C p.260
. . | 09 . . . . g.25774
ACATTTCATATTTATGGAGAG | GATCAGGATGCAGTGAAAAAAGCTAGAAGCTTTCTCGAA c.840
T F H I Y G E | D Q D A V K K A R S F L E p.280
. . . . | 10 . . g.29574
TTTGCTGAAGATGTAATACAAGTTCCAAGGAACTTAGTAG | GCAAAGTAATAGGAAAAAAT c.900
F A E D V I Q V P R N L V G | K V I G K N p.300
. . . . . . g.29634
GGAAAGCTGATTCAGGAGATTGTGGACAAGTCAGGAGTTGTGAGGGTGAGGATTGAGGCT c.960
G K L I Q E I V D K S G V V R V R I E A p.320
. . . | 11 . . . g.30546
GAAAATGAGAAAAATGTTCCACAAGAAGAG | GAAATTATGCCACCAAATTCCCTTCCTTCC c.1020
E N E K N V P Q E E | E I M P P N S L P S p.340
. . . . . . g.30606
AATAATTCAAGGGTTGGACCTAATGCCCCAGAAGAAAAAAAACATTTAGATATAAAGGAA c.1080
N N S R V G P N A P E E K K H L D I K E p.360
. . . . | 12 . . g.31164
AACAGCACCCATTTTTCTCAACCTAACAGTACAAAAGTCCAGAGG | GTGTTAGTGGCTTCA c.1140
N S T H F S Q P N S T K V Q R | V L V A S p.380
. . . . | 13 . g.33638
TCAGTTGTAGCAGGGGAATCCCAGAAACCTGAACTCAAGGCTTGGCAG | GGTATGGTACCA c.1200
S V V A G E S Q K P E L K A W Q | G M V P p.400
. . . . . . g.33698
TTTGTTTTTGTGGGAACAAAGGACAGCATCGCTAATGCCACTGTTCTTTTGGATTATCAC c.1260
F V F V G T K D S I A N A T V L L D Y H p.420
. | 14 . . . . . g.36227
CTGAACTATTTAAAG | GAAGTAGACCAGTTGCGTTTGGAGAGATTACAAATTGATGAGCAG c.1320
L N Y L K | E V D Q L R L E R L Q I D E Q p.440
. . . . . . g.36287
TTGCGACAGATTGGAGCTAGTTCTAGACCACCACCAAATCGTACAGATAAGGAAAAAAGC c.1380
L R Q I G A S S R P P P N R T D K E K S p.460
. . . . . . g.36347
TATGTGACTGATGATGGTCAAGGAATGGGTCGAGGTAGTAGACCTTACAGAAATAGGGGG c.1440
Y V T D D G Q G M G R G S R P Y R N R G p.480
. . . | 15 . . . g.37949
CACGGCAGACGCGGTCCTGGATATACTTCAG | GAACTAATTCTGAAGCATCAAATGCTTCT c.1500
H G R R G P G Y T S G | T N S E A S N A S p.500
. . . . . . g.38009
GAAACAGAATCTGACCACAGAGACGAACTCAGTGATTGGTCATTAGCTCCAACAGAGGAA c.1560
E T E S D H R D E L S D W S L A P T E E p.520
. . . . . . g.38069
GAGAGGGAGAGCTTCCTGCGCAGAGGAGACGGACGGCGGCGTGGAGGGGGAGGAAGAGGA c.1620
E R E S F L R R G D G R R R G G G G R G p.540
. . . | 16 . . . g.38611
CAAGGAGGAAGAGGACGTGGAGGAGGCTTCAAAG | GAAACGACGATCACTCCCGAACAGAT c.1680
Q G G R G R G G G F K G | N D D H S R T D p.560
. . . . . | 17. g.41737
AATCGTCCACGTAATCCAAGAGAGGCTAAAGGAAGAACAACAGATGGATCCCTTCAG | ATC c.1740
N R P R N P R E A K G R T T D G S L Q | I p.580
. . . . . . g.41797
AGAGTTGACTGCAATAATGAAAGGAGTGTCCACACTAAAACATTACAGAATACCTCCAGT c.1800
R V D C N N E R S V H T K T L Q N T S S p.600
. . . . . . g.41857
GAAGGTAGTCGGCTGCGCACGGGTAAAGATCGTAACCAGAAGAAAGAGAAGCCAGACAGC c.1860
E G S R L R T G K D R N Q K K E K P D S p.620
. . . g.41896
GTGGATGGTCAGCAACCACTCGTGAATGGAGTACCCTAA c.1899
V D G Q Q P L V N G V P X p.632
. . . . . . g.41956
actgcataattctgaagttatatttcctataccatttccgtaattcttattccatattag c.*60
. . . . . . g.42016
aaaactttgttaggccaaagacaaatagtaggcaagatggcacagggcatgaaatgaaca c.*120
. . . . . . g.42076
caaattatgctaagaattttttattttttggtattggccataagcaacaattttcagatt c.*180
. . . . . . g.42136
tgcacaaaaagataccttaaaatttgaaacattgcttttaaaactacttagcacttcagg c.*240
. . . . . . g.42196
gcagattttagttttattttctaaagtactgagcagtgatattctttgttaatttggacc c.*300
. . . . . . g.42256
attttcctgcattgggtgatcattcaccagtacattctcagtttttcttaatatatagca c.*360
. . . . . . g.42316
tttatggtaatcatattagacttctgttttcaatctcgtatagaagtcttcatgaaatgc c.*420
. . . . . . g.42376
tatgtcatttcatgtcctgtgtcagtttatgttttggtccacttttccagtattttagtg c.*480
. . . . . . g.42436
gaccctgaaatgtgtgtgatgtgacatttgtcattttcattagcaaaaaaagttgtatga c.*540
. . . . . . g.42496
tctgtgccttttttatatcttggcaggtaggaatattatatttggatgcagagttcaggg c.*600
. . . . . . g.42556
aagataagttggaaacactaaatgttaaagatgtagcaaaccctgtcaaacattagtact c.*660
. . . . . . g.42616
ttatagaagaatgcatgctttccatatttttttccttacataaacatcaggttaggcagt c.*720
. . . . . . g.42676
ataaagaataggacttgtttttgtttttgttttgttgcactgaagtttgataaatagtgt c.*780
. . . . . . g.42736
tattgagagagatgtgtaatttttctgtatagacaggagaagaaagaactatcttcatct c.*840
. . . . . . g.42796
gagagaggctaaaatgttttcagctaggaacaaatcttcctggtcgaaagttagtaggat c.*900
. . . . . . g.42856
atgcctgctctttggcctgatgaccaattttaacttagagctttttttttttaattttgt c.*960
. . . . . . g.42916
ctgccccaagttttgtgaaatttttcatattttaatttcaagcttattttggagagatag c.*1020
. . . . . . g.42976
gaaggtcatttccatgtatgcataataatcctgcaaagtacaggtactttgtctaagaaa c.*1080
. . . . . . g.43036
cattggaagcaggttaaatgttttgtaaactttgaaatatatggtctaatgtttaagcag c.*1140
. . . . . . g.43096
aattggaaaagactaagatcggttaacaaataacaacttttttttctttttttcttttgt c.*1200
. . . . . . g.43156
tttttgaagtgttggggtttggttttgttttttgagtcttttttttttaagtgaaattta c.*1260
. . . . . . g.43216
ttgaggaaaaatatgtgaaggaccttcactctaagatgttatatttttcttaaaaagtaa c.*1320
. . . . . . g.43276
ctcctagtaggggtaccactgaatctgtacagagccgtaaaaactgaagttctgcctctg c.*1380
. . . . . . g.43336
atgtattttgtgagtttgtttctttgaattttcattttacagttacttttccttgcatac c.*1440
. . . . . . g.43396
aaacaagcatataaaatggcaacaaactgcacatgatttcacaaatattaaaaagtcttt c.*1500
. . . . . . g.43456
taaaaagtattgccaaacattaatgttgatttctagttatttattctgggaatgtatagt c.*1560
. . . . . . g.43516
atttgaaaacagaaattggtaccttgcacacatcatctgtaagctgtttggttttaaaat c.*1620
. . . . . . g.43576
actgtagataattaaccaaggtagaatgaccttgtaatgtaactgctcttgggcaatatt c.*1680
. . . . . . g.43636
ctctgtacatattagcgacaacagattggattttatgttgacatttgtttggttatagtg c.*1740
. . . . . . g.43696
caatatattttgtatgcaagcagtttcaataaagtttgatcttcctctgctaaattgatg c.*1800
. . . . . . g.43756
ttgatgcaatccttacaaatgattgcttttaaaattttaagctaggaaaagaaatctata c.*1860
. . . . . . g.43816
gaaagtgttctgttacaaaatgtaactgttaccattggaaatttcacgtcataggaagtt c.*1920
. . . . . . g.43876
agcctttatctaccaactttcaagaacttgtttaataaagcgaaaaactcaaccaaatgg c.*1980
. . . . . . g.43936
tacaaaaccacagtgtaccattaaaatatgcactaagtctcttttttacaaaggctgtat c.*2040
. . . . . . g.43996
tcagcaaggcgctaacttgcttaaatgtgaattactaacttctaaaactgtactttgatt c.*2100
. . . . . . g.44056
cacatgttttcaaatggagttggagttcattcatattacaatatttgtgtgctaaacgtg c.*2160
. . . . . . g.44116
tatgtttttcagttcaaagtcatgatgtttttaaaatcttattaaagtttcaaaaatctg c.*2220
. . . . . . g.44176
aagattgtttatctagatgtaaatttttattaaaaagttgcacttatgaaaaagcaaaaa c.*2280
g.44179
att c.*2283
(downstream sequence)
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