(used for mutation description)
(last modified February 12, 2011)
This file was created to facilitate the description of sequence variants in the CHRNB1 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008026.1, covering CHRNB1 transcript NM_000747.2. The protein is N-terminally cleaved to obtain the mature CHRNB1 protein, removing the signal peptide (amino acids 1-23). Publications describing variants in CHRNB1 originally used the mature protein as a reference.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . . g.5041
agcggctctctgagcgaagtcactgagcgagccgccaggct c.-1
. . . . . | 02 g.5185
ATGACCCCAGGGGCTCTGCTGATGCTGCTGGGGGCGCTGGGGGCGCCGCTCGCCCCAG | GC c.60
M T P G A L L M L L G A L G A P L A P G | p.20
. . . . . . g.5245
GTCCGCGGCTCGGAGGCGGAGGGTCGACTCCGGGAGAAACTTTTCTCTGGCTATGATAGC c.120
V R G S E A E G R L R E K L F S G Y D S p.40
. . . . . . g.5305
TCCGTGCGGCCAGCGCGGGAGGTGGGAGACCGTGTCAGGGTCAGCGTTGGTCTCATCCTG c.180
S V R P A R E V G D R V R V S V G L I L p.60
. | 03 . . . . g.6024
GCGCAACTCATCAGCCTG | AACGAGAAGGATGAAGAGATGAGCACAAAGGTGTACTTAGAC c.240
A Q L I S L | N E K D E E M S T K V Y L D p.80
| 04 . . . . . . g.6803
CTG | GAGTGGACTGACTACAGGCTGAGCTGGGACCCTGCGGAGCACGACGGCATCGATTCG c.300
L | E W T D Y R L S W D P A E H D G I D S p.100
. . . . . | 05 . g.6963
CTCCGCATCACGGCGGAATCCGTGTGGCTCCCTGACGTGGTGCTACTGAACAA | CAATGAT c.360
L R I T A E S V W L P D V V L L N N | N D p.120
. . . . . . g.7023
GGGAATTTTGACGTGGCTCTGGACATTAGCGTCGTGGTGTCCTCCGACGGCTCCGTGCGT c.420
G N F D V A L D I S V V V S S D G S V R p.140
. . . . | 06 . . g.7434
TGGCAACCCCCGGGCATCTATCGCAGCAGCTGCAGCATCCAG | GTCACCTACTTCCCCTTC c.480
W Q P P G I Y R S S C S I Q | V T Y F P F p.160
. . . . . . g.7494
GACTGGCAGAATTGCACTATGGTGTTCAGCTCCTACAGCTACGACAGCTCGGAGGTCAGC c.540
D W Q N C T M V F S S Y S Y D S S E V S p.180
. . . . . . g.7554
CTGCAGACAGGCCTGGGTCCTGACGGGCAAGGGCATCAGGAAATCCACATTCATGAAGGG c.600
L Q T G L G P D G Q G H Q E I H I H E G p.200
. | 07 . . . . . g.8542
ACTTTCATTG | AGAATGGCCAGTGGGAGATTATCCACAAGCCCTCTCGGCTAATCCAGCCT c.660
T F I E | N G Q W E I I H K P S R L I Q P p.220
. . . . . . g.8602
CCAGGCGATCCTAGGGGAGGGAGGGAAGGACAGCGCCAGGAAGTCATCTTCTACCTCATC c.720
P G D P R G G R E G Q R Q E V I F Y L I p.240
. . . . . . g.8662
ATCCGCCGCAAGCCTCTCTTCTACCTGGTCAACGTCATTGCCCCATGCATCCTCATCACT c.780
I R R K P L F Y L V N V I A P C I L I T p.260
. . . . | 08 . . g.14230
CTTCTGGCCATCTTCGTCTTCTACCTGCCACCAGATGCAG | GAGAGAAGATGGGGCTCTCA c.840
L L A I F V F Y L P P D A G | E K M G L S p.280
. . . . . . g.14290
ATCTTTGCCCTGCTGACCCTTACTGTGTTCCTGCTGCTGCTGGCTGACAAAGTACCTGAG c.900
I F A L L T L T V F L L L L A D K V P E p.300
. . . . . . g.14350
ACCTCACTATCAGTACCCATTATTATCAAGTACCTCATGTTTACCATGGTCCTCGTCACC c.960
T S L S V P I I I K Y L M F T M V L V T p.320
. . . . . . g.14410
TTCTCAGTCATCCTTAGTGTCGTGGTTCTCAACCTGCACCACCGCTCACCCCACACCCAC c.1020
F S V I L S V V V L N L H H R S P H T H p.340
. . | 09 . . . . g.15233
CAAATGCCCCTTTGGGTCCGTCAG | ATCTTCATTCACAAACTTCCGCTGTACCTGCGTCTA c.1080
Q M P L W V R Q | I F I H K L P L Y L R L p.360
. . . . . . g.15293
AAAAGGCCCAAACCCGAGAGAGACCTGATGCCGGAGCCCCCTCACTGTTCTTCTCCAGGA c.1140
K R P K P E R D L M P E P P H C S S P G p.380
. . . . . . g.15353
AGTGGCTGGGGTCGGGGAACAGATGAATATTTCATCCGGAAGCCGCCAAGTGATTTTCTC c.1200
S G W G R G T D E Y F I R K P P S D F L p.400
. | 10. . . . . g.15750
TTCCCCAAACCCAATAG | GTTCCAGCCTGAACTGTCTGCCCCTGATCTGCGGCGATTTATC c.1260
F P K P N R | F Q P E L S A P D L R R F I p.420
. . . . . . g.15810
GATGGTCCAAACCGGGCTGTGGCCCTGCTTCCGGAGCTACGGGAGGTCGTCTCCTCTATC c.1320
D G P N R A V A L L P E L R E V V S S I p.440
. . . . | 11 . . g.16511
AGCTACATCGCTCGACAGCTGCAGGAACAGGAGGACCACGATGCG | CTGAAGGAGGACTGG c.1380
S Y I A R Q L Q E Q E D H D A | L K E D W p.460
. . . . . . g.16571
CAGTTTGTGGCCATGGTAGTGGACCGCCTCTTCCTGTGGACTTTCATCATCTTCACCAGC c.1440
Q F V A M V V D R L F L W T F I I F T S p.480
. . . . . . g.16631
GTTGGGACCCTAGTCATCTTCCTGGACGCCACGTACCACTTGCCCCCTCCAGACCCCTTT c.1500
V G T L V I F L D A T Y H L P P P D P F p.500
g.16637
CCTTGA c.1506
P X p.501
. . . . . . g.16697
agactggagggttgagacccaggccccctgccagttgaagtgagagtttggtgatactgt c.*60
. . . . . . g.16757
caagccctatccttctctgcctcttaactccttcacgaggaatctgggcctcttatttcg c.*120
. . . . . . g.16817
tttctggggactgcattggactgagggctgggtaggcaggtgtcttggacccacctgaaa c.*180
. . . . . . g.16877
tgcagtatcatctgatttactctttgggatcttgaagaagctcttttgggtatcaacacc c.*240
. . . . . . g.16937
taggtcgccagtgaaatagaacacagaacaggaactagattataagccttatgaggtcaa c.*300
. . . . . . g.16997
gaaatgtgacttggccgggcgcggtggctcacgcctgtaatcccagcactttgggaggcc c.*360
. . . . . . g.17057
aaggcgggcggatcacctgaggtcgggagtttgagaccagcccgaccaacatggagaaac c.*420
. . . . . . g.17117
cctgtctctactaaaaatacaaaattagccaggtgtggtggtacatgcctgtaatcccag c.*480
. . . . . . g.17177
ctactagggaggctgaggcaggagaatcactcgaacccgggaggcagaggttgcagtgag c.*540
. . . . . . g.17237
tcaagatcacgccattgcactccagcctgggcaacaagagcgaaactccatctcaaaaaa c.*600
. . . . . . g.17297
aaaaaagtgtcttgttcactgcagcatgcccagtgccacgcacaggtgctgacctatagt c.*660
. . . . . . g.17357
aagtgcttaacatttgttgaataggggaaagaaatttccggaagtaaatacagcaattaa c.*720
. . . . . . g.17417
taatgtttataagctgggcatggtcgctcaggccagtaatcccagtgacttaggaggctg c.*780
. . . . . . g.17477
aggtgggaggattacttgaaacccacagtttgagaccagcctgggcaacatagtgagacc c.*840
. . . . . g.17527
ctgtctctaaaaaaataaaaatagaaataaagtagtgcttattgtttgca c.*890
(downstream sequence)
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