(used for mutation description)
(last modified December 30, 2011)
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).
(upstream sequence)
. g.5012
cacgcagcagg c.-1
. . . . | 02 . . g.5326
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.5386
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.5446
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.5755
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.5815
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.6004
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.6064
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.6124
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.6490
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.6550
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.6944
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.7004
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.7064
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.7206
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.7266
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.8536
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.8596
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.8739
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.8799
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.8859
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.9009
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.9069
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.9238
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.9298
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.9340
CGAGTGCCTGATCTCCCCTACGCGCCGTGTATCCAGCCTTAG c.1482
R V P D L P Y A P C I Q P X p.493
. . . . . . g.9400
ctcgcaccgacttcaatttcccacccatctccagtaggaaattgattttgaaaaagtagg c.*60
. . . . . . g.9460
ctgccgccaccacggcattatgatcccttccccctgctgatcaatctgcagtttgtgaac c.*120
. . . . . . g.9520
ttcacaagaatggtgtgtgcccgttccctggcgtgtgtaggcctggccgcagtccagggg c.*180
. . . . . . g.9580
tcagcaggaggaaagggttcacataggctctcaggtgccagtcttccagaaagcaaggac c.*240
. . . . . . g.9640
tgcccttcattcagccttgctgacctcccagcctttctaaggctcagccccacgggactc c.*300
. . . . . . g.9700
tggtggctgccagcttgtgagctatctatctatattcatttcatagccaaacaggagacc c.*360
. . . . . . g.9760
cctttgcaggacttgcacacagggaggctgtagccaggaaaccctcttcttccctggtct c.*420
. . . . . . g.9820
ggctctgctggagcgggtgggaaccaaacaccttcagtgctggtggccctcaggcccaca c.*480
. . . . . . g.9880
ggtttaaggctgaggctgccctgacccttccacagtcatttcttctaggttttcttggcc c.*540
. . . . . . g.9940
cagcactgcccatcccaccccatgaggctcactcattgcagatcccagcccaccctgccc c.*600
. . . . . . g.10000
ctttcttccccaccctggaggctctctctgcctagtctacagtactgacagaaagcaagg c.*660
. . . . . . g.10060
acatgcggcctgcat ggtgggagctggttgaattgtctttattaacaaacaggatatcca c.*720
^ 3'end / polyA addition site MINK1 gene (transcribed from other strand)
. . . . . . g.10120
aggccactacattgaggaggggtggggggggagggagaagggttacttgctgctcacact c.*780
. . . . . . g.10180
atatacagatgcaagcaaggggcgtggagagtgagggctccctgctccctccctccaccg c.*840
. . . . . . g.10240
gggaagggcatgggctagaagaggagaggggggtcgggaatggggggaatgttttggctg c.*900
. . . . . . g.10300
gcggggtcccccctccattccctggagtttgggggaaggggaatcattaaagtgctttca c.*960
g.10307
gaaaatg c.*967
(downstream sequence)
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