(used for variant description)
(last modified April 19, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_014249.3 in the NR2E3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering NR2E3 transcript NM_014249.3.
(upstream sequence)
. g.5010
cccgggagaaatctcc c.-181
. . . . . . g.5070
tcaagccagagcctgtgctgtgaggggcttcgggaccttggggcagctcctgagttcaga c.-121
. . . . . . g.5130
cagagttcaggaagggagacaggggcacagagagacagaggttcatggactgaggcaaag c.-61
. . . . . . g.5190
gctgggccaggctcagcaacccaggcctcccgcaggcaggcagaggctgccctgtaaccc c.-1
. . . . . . g.5250
ATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCT c.60
M E T R P T A L M S S T V A A A A P A A p.20
. . . . . | 02 g.5931
GGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGGGAGGATCCCACAG | GC c.120
G A A S R K E S P G R W G L G E D P T G | p.40
. . . . . . g.5991
GTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGC c.180
V S P S L Q C R V C G D S S S G K H Y G p.60
. . . . . . g.6051
ATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATC c.240
I Y A C N G C S G F F K R S V R R R L I p.80
| 03 . . . . . . g.6267
TACAG | GTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGC c.300
Y R | C Q V G A G M C P V D K A H R N Q C p.100
. . . . | 04 . g.6412
CAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACG | CCGTGCAGAAC c.360
Q A C R L K K C L Q A G M N Q D A | V Q N p.120
. . . . . . g.6472
GAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAG c.420
E R Q P R S T A Q V H L D S M E S N T E p.140
. . . . . . g.6532
TCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCC c.480
S R P E S L V A P P A P A G R S P R G P p.160
. . . . . . g.6592
ACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCT c.540
T P M S A A R A L G H H F M A S L I T A p.180
. . . | 05 . . . g.6811
GAAACCTGTGCTAAGCTGGAGCCAGAGGATG | CTGATGAGAATATTGATGTCACCAGCAAT c.600
E T C A K L E P E D A | D E N I D V T S N p.200
. . . . . . g.6871
GACCCTGAGTTCCCCTCCTCTCCATACTCCTCTTCCTCCCCCTGCGGCCTGGACAGCATC c.660
D P E F P S S P Y S S S S P C G L D S I p.220
. . . . . . g.6931
CATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTG c.720
H E T S A R L L F M A V K W A K N L P V p.240
. . | 06. . . . g.7868
TTCTCCAGCCTGCCCTTCCGGGATCAG | GTGATCCTGCTGGAAGAGGCGTGGAGTGAACTC c.780
F S S L P F R D Q | V I L L E E A W S E L p.260
. . . . . . g.7928
TTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCG c.840
F L L G A I Q W S L P L D S C P L L A P p.280
. . . . . . g.7988
CCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACG c.900
P E A S A A G G A Q G R L T L A S M E T p.300
. . . . . . g.8048
CGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAGTTT c.960
R V L Q E T I S R F R A L A V D P T E F p.320
. . . | 07 . . . g.8484
GCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAG | AGACGCGGGGCCTGAAGGATCCTGAG c.1020
A C M K A L V L F K P E | T R G L K D P E p.340
. . . . . . g.8544
CACGTAGAGGCCTTGCAGGACCAGTCCCAAGTGATGCTGAGCCAGCACAGCAAGGCCCAC c.1080
H V E A L Q D Q S Q V M L S Q H S K A H p.360
. . | 08 . . . . g.12038
CACCCCAGCCAGCCCGTGAG | GTTTGGGAAATTGCTCCTGCTCCTCCCGTCTTTGAGGTTT c.1140
H P S Q P V R | F G K L L L L L P S L R F p.380
. . . . . . g.12098
ATCACTGCGGAACGCATCGAGCTCCTCTTTTTCCGCAAGACCATAGGGAATACTCCAATG c.1200
I T A E R I E L L F F R K T I G N T P M p.400
. . . g.12131
GAGAAGCTCCTTTGTGATATGTTCAAAAACTAG c.1233
E K L L C D M F K N X p.410
. . . . . . g.12191
tgggggtggaggtgaaatgtttccaagcactctggaaaacaatctactgaaacgaaacat c.*60
. . . . . . g.12251
ttgcctactctttgccccagcaattcctcgtaggtgtgtgtacccagcagaaatgcccac c.*120
. . . . . . g.12311
cgaaagatattgtaagaatattcatagcagctttattcataatagccccaaactgtatat c.*180
. . . . . . g.12371
tgatggtaggatgaattaacaagttgtggtatattcatataatgaaaaataatttaaaaa c.*240
. . . . . . g.12431
gaatgaattacggatacatgtggcaacacaggtaaacttcacagacataaaagttgaatg c.*300
. . . . . . g.12491
aaagaagccaggccgaagttccatttatgcagagttcaggaacaggcaagactaattgac c.*360
. . . . . . g.12551
aataatagaagttggaatagtggttacttctgggtggtgggggattgatacagagggggc c.*420
. . . . . . g.12611
tcatgggagccctctggtgtaccagaaatgttgattttgatctgggcagtggtttcacaa c.*480
. . . . . . g.12671
atgtattcatacgtaataattcattgagctgtgcactttattttgttagacctcaataaa c.*540
. . . g.12706
aaagtaaaaaaaaaaaacaaaaaaaaccagaaaaa c.*575
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 26
©2004-2021 Leiden University Medical Center