(used for mutation description)
(last modified October 29, 2012)
This file was created to facilitate the description of sequence variants in the NTRK1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007493.1, covering NTRK1 transcript NM_001012331.1.
(upstream sequence)
. . . . . g.50185
tgcagctgggagcgcacagacggctgccccgcctgagcgaggcgggcgccgccgcg c.-1
. . . . . . g.50245
ATGCTGCGAGGCGGACGGCGCGGGCAGCTTGGCTGGCACAGCTGGGCTGCGGGGCCGGGC c.60
M L R G G R R G Q L G W H S W A A G P G p.20
. . . . . . g.50305
AGCCTGCTGGCTTGGCTGATACTGGCATCTGCGGGCGCCGCACCCTGCCCCGATGCCTGC c.120
S L L A W L I L A S A G A A P C P D A C p.40
. . . . . . g.50365
TGCCCCCACGGCTCCTCGGGACTGCGATGCACCCGGGATGGGGCCCTGGATAGCCTCCAC c.180
C P H G S S G L R C T R D G A L D S L H p.60
. . . | 02 . . . g.53632
CACCTGCCCGGCGCAGAGAACCTGACTGAGCT | CTACATCGAGAACCAGCAGCATCTGCAG c.240
H L P G A E N L T E L | Y I E N Q Q H L Q p.80
. . . . | 03. . g.53991
CATCTGGAGCTCCGTGATCTGAGGGGCCTGGGGGAGCTGAGAAACCT | CACCATCGTGAAG c.300
H L E L R D L R G L G E L R N L | T I V K p.100
. . . . . | 04 g.56161
AGTGGTCTCCGTTTCGTGGCGCCAGATGCCTTCCATTTCACTCCTCGGCTCAGTCGCCT | G c.360
S G L R F V A P D A F H F T P R L S R L | p.120
. . . . . . g.56221
AATCTCTCCTTCAACGCTCTGGAGTCTCTCTCCTGGAAAACTGTGCAGGGCCTCTCCTTA c.420
N L S F N A L E S L S W K T V Q G L S L p.140
| 05 . . . . . g.57406
CAGGAACT | GGTCCTGTCGGGGAACCCTCTGCACTGTTCTTGTGCCCTGCGCTGGCTACAG c.480
Q E L | V L S G N P L H C S C A L R W L Q p.160
. . . . . . g.57466
CGCTGGGAGGAGGAGGGACTGGGCGGAGTGCCTGAACAGAAGCTGCAGTGTCATGGGCAA c.540
R W E E E G L G G V P E Q K L Q C H G Q p.180
. . . | 06 . . . g.57781
GGGCCCCTGGCCCACATGCCCAATGCCAGCTGTG | GTGTGCCCACGCTGAAGGTCCAGGTG c.600
G P L A H M P N A S C G | V P T L K V Q V p.200
. . . . . . g.57841
CCCAATGCCTCGGTGGATGTGGGGGACGACGTGCTGCTGCGGTGCCAGGTGGAGGGGCGG c.660
P N A S V D V G D D V L L R C Q V E G R p.220
. . . . . | 07. g.60876
GGCCTGGAGCAGGCCGGCTGGATCCTCACAGAGCTGGAGCAGTCAGCCACGGTGATG | AAA c.720
G L E Q A G W I L T E L E Q S A T V M | K p.240
. . . . . . g.60936
TCTGGGGGTCTGCCATCCCTGGGGCTGACCCTGGCCAATGTCACCAGTGACCTCAACAGG c.780
S G G L P S L G L T L A N V T S D L N R p.260
. . . . . . g.60996
AAGAACGTGACGTGCTGGGCAGAGAACGATGTGGGCCGGGCAGAGGTCTCTGTTCAGGTC c.840
K N V T C W A E N D V G R A E V S V Q V p.280
. | 08 . . . . . g.62933
AACGTCTCCT | TCCCGGCCAGTGTGCAGCTGCACACGGCGGTGGAGATGCACCACTGGTGC c.900
N V S F | P A S V Q L H T A V E M H H W C p.300
. . . . . . g.62993
ATCCCCTTCTCTGTGGATGGGCAGCCGGCACCGTCTCTGCGCTGGCTCTTCAATGGCTCC c.960
I P F S V D G Q P A P S L R W L F N G S p.320
. . . . . . g.63053
GTGCTCAATGAGACCAGCTTCATCTTCACTGAGTTCCTGGAGCCGGCAGCCAATGAGACC c.1020
V L N E T S F I F T E F L E P A A N E T p.340
. . . . . . g.63113
GTGCGGCACGGGTGTCTGCGCCTCAACCAGCCCACCCACGTCAACAACGGCAACTACACG c.1080
V R H G C L R L N Q P T H V N N G N Y T p.360
. . . . . . g.63173
CTGCTGGCTGCCAACCCCTTCGGCCAGGCCTCCGCCTCCATCATGGCTGCCTTCATGGAC c.1140
L L A A N P F G Q A S A S I M A A F M D p.380
. . . | 09. . . g.63844
AACCCTTTCGAGTTCAACCCCGAGGACCCCATCCCTG | ACACTAACAGCACATCTGGAGAC c.1200
N P F E F N P E D P I P D | T N S T S G D p.400
. . . | 10 . . . g.64183
CCGGTGGAGAAGAAGGACGAAACACCTTTTGGG | GTCTCGGTGGCTGTGGGCCTGGCCGTC c.1260
P V E K K D E T P F G | V S V A V G L A V p.420
. . . . . . g.64243
TTTGCCTGCCTCTTCCTTTCTACGCTGCTCCTTGTGCTCAACAAATGTGGACGGAGAAAC c.1320
F A C L F L S T L L L V L N K C G R R N p.440
. | 11 . . . . . g.64814
AAGTTTGGGATCAACC | GCCCGGCTGTGCTGGCTCCAGAGGATGGGCTGGCCATGTCCCTG c.1380
K F G I N R | P A V L A P E D G L A M S L p.460
. . . . . . g.64874
CATTTCATGACATTGGGTGGCAGCTCCCTGTCCCCCACCGAGGGCAAAGGCTCTGGGCTC c.1440
H F M T L G G S S L S P T E G K G S G L p.480
. . . . | 12 . . g.65347
CAAGGCCACATCATCGAGAACCCACAATACTTCAGTGATGCCT | GTGTTCACCACATCAAG c.1500
Q G H I I E N P Q Y F S D A C | V H H I K p.500
. . . . . . g.65407
CGCCGGGACATCGTGCTCAAGTGGGAGCTGGGGGAGGGCGCCTTTGGGAAGGTCTTCCTT c.1560
R R D I V L K W E L G E G A F G K V F L p.520
. . . . . | 13 . g.65656
GCTGAGTGCCACAACCTCCTGCCTGAGCAGGACAAGATGCTGGTGGCTGTCAAG | GCACTG c.1620
A E C H N L L P E Q D K M L V A V K | A L p.540
. . . . . . g.65716
AAGGAGGCGTCCGAGAGTGCTCGGCAGGACTTCCAGCGTGAGGCTGAGCTGCTCACCATG c.1680
K E A S E S A R Q D F Q R E A E L L T M p.560
. . . . . . g.65776
CTGCAGCACCAGCACATCGTGCGCTTCTTCGGCGTCTGCACCGAGGGCCGCCCCCTGCTC c.1740
L Q H Q H I V R F F G V C T E G R P L L p.580
. . . . | 14. . g.68385
ATGGTCTTTGAGTATATGCGGCACGGGGACCTCAACCGCTTCCTCCG | ATCCCATGGACCT c.1800
M V F E Y M R H G D L N R F L R | S H G P p.600
. . . . . . g.68445
GATGCCAAGCTGCTGGCTGGTGGGGAGGATGTGGCTCCAGGCCCCCTGGGTCTGGGGCAG c.1860
D A K L L A G G E D V A P G P L G L G Q p.620
. . . . . . g.68505
CTGCTGGCCGTGGCTAGCCAGGTCGCTGCGGGGATGGTGTACCTGGCGGGTCTGCATTTT c.1920
L L A V A S Q V A A G M V Y L A G L H F p.640
. . . . . . g.68565
GTGCACCGGGACCTGGCCACACGCAACTGTCTAGTGGGCCAGGGACTGGTGGTCAAGATT c.1980
V H R D L A T R N C L V G Q G L V V K I p.660
. . . . | 15 . g.69261
GGTGATTTTGGCATGAGCAGGGATATCTACAGCACCGACTATTACCGT | GTGGGAGGCCGC c.2040
G D F G M S R D I Y S T D Y Y R | V G G R p.680
. . . . . . g.69321
ACCATGCTGCCCATTCGCTGGATGCCGCCCGAGAGCATCCTGTACCGTAAGTTCACCACC c.2100
T M L P I R W M P P E S I L Y R K F T T p.700
. . . . . . g.69381
GAGAGCGACGTGTGGAGCTTCGGCGTGGTGCTCTGGGAGATCTTCACCTACGGCAAGCAG c.2160
E S D V W S F G V V L W E I F T Y G K Q p.720
. . | 16. . . . g.70740
CCCTGGTACCAGCTCTCCAACACGGAG | GCAATCGACTGCATCACGCAGGGACGTGAGTTG c.2220
P W Y Q L S N T E | A I D C I T Q G R E L p.740
. . . . . . g.70800
GAGCGGCCACGTGCCTGCCCACCAGAGGTCTACGCCATCATGCGGGGCTGCTGGCAGCGG c.2280
E R P R A C P P E V Y A I M R G C W Q R p.760
. . . . . . g.70860
GAGCCCCAGCAACGCCACAGCATCAAGGATGTGCACGCCCGGCTGCAAGCCCTGGCCCAG c.2340
E P Q Q R H S I K D V H A R L Q A L A Q p.780
. . . g.70893
GCACCTCCTGTCTACCTGGATGTCCTGGGCTAG c.2373
A P P V Y L D V L G X p.790
. . . . . . g.70953
ggggccggcccaggggctgggagtggttagccggaatactggggcctgccctcagcatcc c.*60
. . . . . . g.71013
cccatagctcccagcagccccagggtgatctcaaagtatctaattcaccctcagcatgtg c.*120
. . . . . . g.71073
ggaagggacaggtgggggctgggagtagaggatgttcctgcttctctaggcaaggtcccg c.*180
. . g.71101
tcatagcaattatatttattatcccttg c.*208
(downstream sequence)
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