(used for mutation description)
(last modified February 22, 2011)
This file was created to facilitate the description of sequence variants in the CHAT gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011797.1, covering CHAT transcript NM_020549.4.
(upstream sequence)
. . . g.9975
aaatgctgagctaggggcaggaggcatgggcgg c.-121
. . . . . . g.10035
gacagtgttctgtgcccccttctagagcctaaatttgttgcccgagttcctccgggaagc c.-61
. . . . . . g.10095
gctccgggtagattctgggggccgggagctgagatccctgggcggggagctggggaaggg c.-1
. . . . . . g.10155
ATGGGGCTGAGGACAGCGAAGAAGAGGGGGCTTGGGGGAGGGGGGAAATGGAAGAGAGAG c.60
M G L R T A K K R G L G G G G K W K R E p.20
. . . . . . g.10215
GAGGGAGGAGGTACAAGAGGAAGGAGAGAAGTGCGGCCAGCTTGCTTTCTCCAGTCGGGT c.120
E G G G T R G R R E V R P A C F L Q S G p.40
. . . . . . g.10275
GGCCGCGGGGACCCGGGCGACGTCGGAGGCCCTGCCGGGAACCCAGGCTGCAGCCCCCAC c.180
G R G D P G D V G G P A G N P G C S P H p.60
. . . . . . g.10335
CCCCGCGCTGCGACACGCCCCCCACCCCTTCCGGCTCACACCCCCGCCCACACTCCTGAG c.240
P R A A T R P P P L P A H T P A H T P E p.80
. . . . | 02 . . g.12421
TGGTGCGGTGCAGCGTCGGCCGAGGCAGCAGAGCCGAGGAGAGCAG | GTCCACACCTCTGC c.300
W C G A A S A E A A E P R R A G | P H L C p.100
. . . . . . g.12481
ATCCCTGCACCAGGACTCACCAAGACGCCCATCCTGGAAAAGGTCCCCCGTAAGATGGCA c.360
I P A P G L T K T P I L E K V P R K M A p.120
. . | 03. . . . g.15663
GCAAAAACTCCCAGCAGTGAGGAGTCT | GGGCTGCCCAAACTGCCCGTGCCCCCGCTGCAG c.420
A K T P S S E E S | G L P K L P V P P L Q p.140
. . . . . . g.15723
CAGACCCTGGCCACGTACCTGCAGTGCATGCGACACTTGGTGTCTGAGGAGCAGTTCAGG c.480
Q T L A T Y L Q C M R H L V S E E Q F R p.160
. . . . . . g.15783
AAGAGCCAGGCCATTGTGCAGCAGTTTGGGGCCCCTGGTGGCCTCGGCGAGACCCTGCAG c.540
K S Q A I V Q Q F G A P G G L G E T L Q p.180
. . . | 04 . . g.16421
CAGAAACTCCTGGAGCGGCAGGAGAAGACAGCCAACTGG | GTGTCTGAGTACTGGCTGAAT c.600
Q K L L E R Q E K T A N W | V S E Y W L N p.200
. . . . . . g.16481
GACATGTATCTCAACAACCGCCTGGCCCTGCCTGTCAACTCCAGCCCTGCCGTGATCTTT c.660
D M Y L N N R L A L P V N S S P A V I F p.220
. . . | 05 . . g.18024
GCTCGGCAGCACTTCCCTGGCACCGATGACCAGCTGAG | GTTTGCAGCCAGCCTCATCTCT c.720
A R Q H F P G T D D Q L R | F A A S L I S p.240
. . . | 06 . . . g.21406
GGTGTACTCAGCTACAAGGCCCTGCTGGACAG | CCACTCCATTCCCACTGACTGTGCCAAA c.780
G V L S Y K A L L D S | H S I P T D C A K p.260
. . . . . . g.21466
GGCCAGCTGTCAGGGCAGCCCCTTTGCATGAAGCAATACTATGGGCTCTTCTCCTCCTAC c.840
G Q L S G Q P L C M K Q Y Y G L F S S Y p.280
. . . . . . g.21526
CGGCTCCCCGGCCATACCCAGGACACGCTGGTGGCTCAGAACAGCAGCATCATGCCGGAG c.900
R L P G H T Q D T L V A Q N S S I M P E p.300
. . . | 07 . . . g.23540
CCTGAGCACGTCATCGTAGCCTGCTGCAATCAG | TTCTTTGTCTTGGATGTTGTCATTAAT c.960
P E H V I V A C C N Q | F F V L D V V I N p.320
. . . . . . g.23600
TTCCGCCGTCTCAGTGAGGGGGATCTGTTCACTCAGTTGAGAAAGATAGTCAAAATGGCT c.1020
F R R L S E G D L F T Q L R K I V K M A p.340
. . . . . . g.23660
TCCAACGAGGACGAGCGTTTGCCTCCAATTGGCCTGCTGACGTCTGACGGGAGGAGCGAG c.1080
S N E D E R L P P I G L L T S D G R S E p.360
. . . | 08 . . . g.42439
TGGGCCGAGGCCAGGACGGTCCTCGTGAAAG | ACTCCACCAACCGGGACTCGCTGGACATG c.1140
W A E A R T V L V K D | S T N R D S L D M p.380
. . . . . . g.42499
ATTGAGCGCTGCATCTGCCTTGTATGCCTGGACGCGCCAGGAGGCGTGGAGCTCAGCGAC c.1200
I E R C I C L V C L D A P G G V E L S D p.400
. . . . . . g.42559
ACCCACAGGGCACTCCAGCTCCTTCACGGCGGAGGCTACAGCAAGAACGGGGCCAATCGC c.1260
T H R A L Q L L H G G G Y S K N G A N R p.420
. . | 09 . . . . g.44451
TGGTACGACAAGTCCCTGCAG | TTTGTGGTGGGCCGAGACGGCACCTGCGGTGTGGTGTGC c.1320
W Y D K S L Q | F V V G R D G T C G V V C p.440
. . . . . . g.44511
GAACACTCCCCATTCGATGGCATCGTCCTGGTGCAGTGCACTGAGCATCTGCTCAAGCAC c.1380
E H S P F D G I V L V Q C T E H L L K H p.460
| 10 . . . . . . g.45471
AT | GACGCAGAGCAGCAGGAAGCTGATCCGAGCAGACTCCGTCAGCGAGCTCCCCGCCCCC c.1440
M | T Q S S R K L I R A D S V S E L P A P p.480
. . . . . . g.45531
CGGAGGCTGCGGTGGAAATGCTCCCCGGAAATTCAAGGCCACTTAGCCTCCTCGGCAGAA c.1500
R R L R W K C S P E I Q G H L A S S A E p.500
. | 11 . . . . . g.47838
AAACTTCAACG | AATAGTAAAGAACCTTGACTTCATTGTCTATAAGTTTGACAACTATGGG c.1560
K L Q R | I V K N L D F I V Y K F D N Y G p.520
. . . . . . g.47898
AAAACATTCATTAAGAAGCAGAAATGCAGCCCTGATGCCTTCATCCAGGTGGCCCTCCAG c.1620
K T F I K K Q K C S P D A F I Q V A L Q p.540
. | 12 . . . . . g.51046
CTGGCCTTCTACAG | GCTCCATCGAAGACTGGTGCCCACCTACGAGAGCGCGTCCATCCGC c.1680
L A F Y R | L H R R L V P T Y E S A S I R p.560
. . . . . . g.51106
CGATTCCAGGAGGGACGCGTGGACAACATCAGATCGGCCACTCCAGAGGCACTGGCTTTT c.1740
R F Q E G R V D N I R S A T P E A L A F p.580
. . . | 13 . . . g.51315
GTGAGAGCCGTGACTGACCACAAGGCTGCTGTGCCA | GCTTCTGAGAAGCTTCTGCTCCTG c.1800
V R A V T D H K A A V P | A S E K L L L L p.600
. . . | 14 . . g.58571
AAGGATGCCATCCGTGCCCAGACTGCATACACAGTCATG | GCCATAACAGGGATGGCCATT c.1860
K D A I R A Q T A Y T V M | A I T G M A I p.620
. . . . . . g.58631
GACAACCACCTGCTGGCACTGCGGGAGCTGGCCCGGGCCATGTGCAAGGAGCTGCCCGAG c.1920
D N H L L A L R E L A R A M C K E L P E p.640
. . . . . | 15. g.60685
ATGTTCATGGATGAAACCTACCTGATGAGCAACCGGTTTGTCCTCTCCACTAGCCAG | GTG c.1980
M F M D E T Y L M S N R F V L S T S Q | V p.660
. . . . . . g.60745
CCCACAACCACGGAGATGTTCTGCTGCTATGGTCCTGTGGTCCCAAATGGGTATGGTGCC c.2040
P T T T E M F C C Y G P V V P N G Y G A p.680
. . . . . . g.60805
TGCTACAACCCCCAGCCAGAGACCATCCTTTTCTGCATCTCTAGCTTTCACAGCTGCAAA c.2100
C Y N P Q P E T I L F C I S S F H S C K p.700
. . . . . . g.60865
GAGACTTCTTCTAGCAAGTTTGCAAAAGCTGTGGAAGAAAGCCTCATTGACATGAGAGAC c.2160
E T S S S K F A K A V E E S L I D M R D p.720
. . . . . . g.60925
CTCTGCAGTCTGCTGCCGCCTACTGAGAGCAAGCCATTGGCAACAAAGGAAAAAGCCACG c.2220
L C S L L P P T E S K P L A T K E K A T p.740
. . g.60952
AGGCCCAGCCAGGGACACCAACCTTGA c.2247
R P S Q G H Q P X p.748
. . . . . g.61010
ctcctgccactaggtttcacctcccaaacccagcctctagaacagccagaccctgcag c.*58
(downstream sequence)
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