(used for variant description)
(last modified January 20, 2019)
This file was created to facilitate the description of sequence variants in the CHRNE gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008029.2, covering CHRNE transcript NM_000080.3. The protein is N-terminally cleaved to obtain the mature CHRNE protein, removing the signal peptide (amino acids 1-20). Publications describing variants in CHRNE originally used the mature protein as a reference.
CHRNE intron 8 contains the C17ORF107 gene (transcribed from the other strand). The end of CHRNE gene overlaps with 3' end of the MINK1 gene (transcribed from other strand).
Please note that introns are available by clicking on the exon numbers above the sequence. (upstream sequence)
. g.5011
cacgcagcagg c.-1
. . . . | 02 . . g.5325
ATGGCAAGGGCTCCGCTTGGGGTCCTGCTCCTCTTGGGGCTTCTCG | GCAGGGGTGTGGGG c.60
M A R A P L G V L L L L G L L G | R G V G p.20
. . . . . . g.5385
AAGAACGAGGAACTGCGTCTTTATCACCATCTCTTCAACAACTATGACCCAGGAAGCCGG c.120
K N E E L R L Y H H L F N N Y D P G S R p.40
. . . . . . g.5445
CCAGTGCGGGAGCCTGAGGATACTGTCACCATCAGCCTCAAGGTCACCCTGACGAATCTC c.180
P V R E P E D T V T I S L K V T L T N L p.60
| 03 . . . . | 04 . g.5754
ATCTCACTG | AATGAAAAAGAGGAGACTCTCACCACTAGCGTCTGGATTGGAATC | GATTGG c.240
I S L | N E K E E T L T T S V W I G I | D W p.80
. . . . . . g.5814
CAGGATTACCGACTCAACTACAGCAAGGACGACTTTGGGGGTATAGAAACCCTGCGAGTC c.300
Q D Y R L N Y S K D D F G G I E T L R V p.100
. . . . | 05 . . g.6003
CCTTCAGAACTCGTGTGGCTGCCAGAGATTGTGCTGGAAAACAA | TATTGATGGCCAGTTC c.360
P S E L V W L P E I V L E N N | I D G Q F p.120
. . . . . . g.6063
GGAGTGGCCTACGACGCCAACGTGCTCGTCTACGAGGGCGGCTCCGTGACGTGGCTGCCT c.420
G V A Y D A N V L V Y E G G S V T W L P p.140
. . . . . . g.6123
CCGGCCATCTACCGCAGCGTCTGCGCAGTGGAGGTCACCTACTTCCCCTTCGATTGGCAG c.480
P A I Y R S V C A V E V T Y F P F D W Q p.160
. . | 06 . . . . g.6489
AACTGTTCGCTTATTTTCCG | CTCTCAGACGTACAATGCCGAAGAGGTGGAGTTCACTTTT c.540
N C S L I F R | S Q T Y N A E E V E F T F p.180
. . . . . . g.6549
GCCGTAGACAACGACGGCAAGACCATCAACAAGATCGACATCGACACAGAGGCCTATACT c.600
A V D N D G K T I N K I D I D T E A Y T p.200
| 07 . . . . . . g.6943
G | AGAACGGCGAGTGGGCCATCGACTTCTGCCCGGGGGTGATCCGCCGCCACCACGGTGGC c.660
E | N G E W A I D F C P G V I R R H H G G p.220
. . . . . . g.7003
GCCACCGACGGCCCAGGGGAGACTGACGTCATCTACTCGCTCATCATCCGCCGGAAGCCG c.720
A T D G P G E T D V I Y S L I I R R K P p.240
. . . . . . g.7063
CTCTTCTACGTCATTAACATCATCGTGCCCTGTGTGCTCATCTCGGGCCTGGTGCTGCTC c.780
L F Y V I N I I V P C V L I S G L V L L p.260
. . | 08 . . . . g.7205
GCCTACTTCCTGCCGGCGCAGG | CCGGCGGCCAGAAATGCACGGTCTCCATCAACGTCCTG c.840
A Y F L P A Q A | G G Q K C T V S I N V L p.280
. . . . . . g.7265
CTCGCCCAGACCGTCTTCTTGTTCCTCATTGCCCAGAAAATCCCAGAGACTTCTCTGAGC c.900
L A Q T V F L F L I A Q K I P E T S L S p.300
. | 09. . . . . g.8535
GTGCCGCTCCTGGGCAG | GTTCCTTATTTTCGTCATGGTGGTCGCCACGCTCATTGTCATG c.960
V P L L G R | F L I F V M V V A T L I V M p.320
^ intron contains C17ORF107 gene
. . . . . . g.8595
AATTGCGTCATCGTGCTCAACGTGTCCCAGCGGACGCCCACCACCCACGCCATGTCCCCG c.1020
N C V I V L N V S Q R T P T T H A M S P p.340
. | 10 . . . . . g.8738
CGGCTGCGCCAC | GTTCTCCTGGAGCTGCTGCCGCGCCTCCTGGGCTCCCCGCCGCCGCCC c.1080
R L R H | V L L E L L P R L L G S P P P P p.360
. . . . . . g.8798
GAGGCCCCCCGGGCCGCCTCGCCCCCAAGGCGGGCGTCGTCGGTGGGCTTATTGCTCCGC c.1140
E A P R A A S P P R R A S S V G L L L R p.380
. . . . . . g.8858
GCGGAGGAGCTGATACTGAAAAAGCCACGGAGCGAGCTCGTGTTTGAGGGGCAGAGGCAC c.1200
A E E L I L K K P R S E L V F E G Q R H p.400
. | 11 . . . . g.9008
CGGCAGGGGACCTGGACGG | CTGCCTTCTGCCAGAGCCTGGGCGCCGCCGCCCCCGAGGTC c.1260
R Q G T W T A | A F C Q S L G A A A P E V p.420
. . . . . . g.9068
CGCTGCTGTGTGGATGCCGTGAACTTCGTGGCCGAGAGCACGAGAGATCAGGAGGCCACC c.1320
R C C V D A V N F V A E S T R D Q E A T p.440
| 12 . . . . . . g.9237
GGCGAG | GAAGTGTCCGACTGGGTGCGCATGGGGAATGCCCTTGACAACATCTGCTTCTGG c.1380
G E | E V S D W V R M G N A L D N I C F W p.460
. . . . . . g.9297
GCCGCTCTGGTGCTCTTCAGCGTGGGCTCCAGCCTCATCTTCCTCGGGGCCTACTTCAAC c.1440
A A L V L F S V G S S L I F L G A Y F N p.480
. . . . g.9339
CGAGTGCCTGATCTCCCCTACGCGCCGTGTATCCAGCCTTAG c.1482
R V P D L P Y A P C I Q P X p.493
. . . . . . g.9399
ctcgcaccgacttcaatttcccacccatctccagtaggaaattgattttgaaaaagtagg c.*60
. . . . . . g.9459
ctgccgccaccacggcattatgatcccttccccctgctgatcaatctgcagtttgtgaac c.*120
. . . . . . g.9519
ttcacaagaatggtgtgtgcccgttccctggcgtgtgtaggcctggccgcagtccagggg c.*180
. . . . . . g.9579
tcagcaggaggaaagggttcacataggctctcaggtgccagtcttccagaaagcaaggac c.*240
. . . . . . g.9639
tgcccttcattcagccttgctgacctcccagcctttctaaggctcagccccacgggactc c.*300
. . . . . . g.9699
tggtggctgccagcttgtgagctatctatctatattcatttcatagccaaacaggagacc c.*360
. . . . . . g.9759
cctttgcaggacttgcacacagggaggctgtagccaggaaaccctcttcttccctggtct c.*420
. . . . . . g.9819
ggctctgctggagcgggtgggaaccaaacaccttcagtgctggtggccctcaggcccaca c.*480
. . . . . . g.9879
ggtttaaggctgaggctgccctgacccttccacagtcatttcttctaggttttcttggcc c.*540
. . . . . . g.9939
cagcactgcccatcccaccccatgaggctcactcattgcagatcccagcccaccctgccc c.*600
. . . . . . g.9999
ctttcttccccaccctggaggctctctctgcctagtctacagtactgacagaaagcaagg c.*660
. . . . . . g.10059
acatgcggcctgcat ggtgggagctggttgaattgtctttattaacaaacaggatatcca c.*720
^ 3'end / polyA addition site MINK1 gene (transcribed from other strand)
. . . . . . g.10119
aggccactacattgaggaggggtggggggggagggagaagggttacttgctgctcacact c.*780
. . . . . . g.10179
atatacagatgcaagcaaggggcgtggagagtgagggctccctgctccctccctccaccg c.*840
. . . . . . g.10239
gggaagggcatgggctagaagaggagaggggggtcgggaatggggggaatgttttggctg c.*900
. . . . . . g.10299
gcggggtcccccctccattccctggagtttgggggaaggggaatcattaaagtgctttca c.*960
g.10306
gaaaatg c.*967
(downstream sequence)
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