(used for variant description)
(last modified June 29, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000060.2 in the BTD gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008019.1, covering BTD transcript NM_000060.2.
(upstream sequence)
. . . . g.5043
agattgctgcctatgcaaagcaggtaagaagccgaactctgag c.-61
. . . . . . g.5103
gcctctcgccattgtctccgagtcggccagctggagcgttttcggggctgtaaagggaga c.-1
. . . . | 02 . . g.38692
ATGGCGCATGCGCATATTCAGGGCGGAAGGCGCGCTAAGAGCAG | ATTTGTGGTCTGCATT c.60
M A H A H I Q G G R R A K S R | F V V C I p.20
. . . . . . g.38752
ATGTCTGGAGCCAGAAGTAAGCTTGCTCTTTTCCTCTGCGGCTGTTACGTGGTTGCCCTG c.120
M S G A R S K L A L F L C G C Y V V A L p.40
. . . . . . g.38812
GGAGCCCACACCGGGGAGGAGAGCGTGGCTGACCATCACGAGGCTGAATATTATGTGGCT c.180
G A H T G E E S V A D H H E A E Y Y V A p.60
. . . . . . g.38872
GCCGTGTATGAGCATCCATCCATCCTGAGTCTGAACCCTCTGGCTCTCATCAGCCGCCAA c.240
A V Y E H P S I L S L N P L A L I S R Q p.80
. . . . . . g.38932
GAGGCCTTGGAGCTCATGAACCAGAACCTTGACATCTATGAACAGCAAGTGATGACTGCA c.300
E A L E L M N Q N L D I Y E Q Q V M T A p.100
| 03 . . . . . g.45211
GCCCAAAAG | GATGTACAGATTATAGTGTTTCCAGAAGATGGCATTCATGGATTCAACTTT c.360
A Q K | D V Q I I V F P E D G I H G F N F p.120
. . . . . . g.45271
ACAAGAACATCCATTTATCCATTTTTGGACTTCATGCCGTCTCCCCAGGTGGTCAGGTGG c.420
T R T S I Y P F L D F M P S P Q V V R W p.140
. . . | 04 . . g.47589
AACCCATGCCTGGAGCCTCACCGCTTCAATGACACAGAG | GTGCTCCAGCGCCTGAGTTGT c.480
N P C L E P H R F N D T E | V L Q R L S C p.160
. . . . . . g.47649
ATGGCCATCAGGGGAGATATGTTCTTGGTGGCCAATCTTGGGACAAAGGAGCCTTGTCAT c.540
M A I R G D M F L V A N L G T K E P C H p.180
. . . . . . g.47709
AGCAGTGACCCAAGGTGCCCAAAAGATGGGAGATACCAGTTCAACACAAATGTCGTGTTC c.600
S S D P R C P K D G R Y Q F N T N V V F p.200
. . . . . . g.47769
AGCAATAATGGAACCCTTGTTGACCGCTACCGTAAACACAACCTCTACTTTGAGGCAGCA c.660
S N N G T L V D R Y R K H N L Y F E A A p.220
. . . . . . g.47829
TTCGATGTTCCTCTTAAAGTGGATCTCATCACCTTTGATACCCCCTTTGCTGGCAGGTTT c.720
F D V P L K V D L I T F D T P F A G R F p.240
. . . . . . g.47889
GGCATCTTCACATGCTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGAC c.780
G I F T C F D I L F F D P A I R V L R D p.260
. . . . . . g.47949
TACAAGGTGAAGCATGTTGTGTACCCAACTGCCTGGATGAACCAGCTCCCACTCTTGGCA c.840
Y K V K H V V Y P T A W M N Q L P L L A p.280
. . . . . . g.48009
GCAATTGAGATTCAGAAAGCTTTTGCTGTTGCCTTTGGCATCAACGTTCTGGCAGCTAAT c.900
A I E I Q K A F A V A F G I N V L A A N p.300
. . . . . . g.48069
GTCCACCACCCAGTTCTGGGGATGACAGGAAGTGGCATACACACCCCTCTGGAGTCCTTT c.960
V H H P V L G M T G S G I H T P L E S F p.320
. . . . . . g.48129
TGGTACCATGACATGGAAAATCCCAAAAGTCACCTTATAATTGCCCAGGTGGCCAAAAAT c.1020
W Y H D M E N P K S H L I I A Q V A K N p.340
. . . . . . g.48189
CCAGTGGGTCTCATTGGTGCAGAGAATGCAACAGGTGAAACGGACCCATCCCATAGTAAG c.1080
P V G L I G A E N A T G E T D P S H S K p.360
. . . . . . g.48249
TTTTTAAAAATTTTGTCAGGCGATCCGTACTGTGAGAAGGATGCTCAGGAAGTCCACTGT c.1140
F L K I L S G D P Y C E K D A Q E V H C p.380
. . . . . . g.48309
GATGAGGCCACCAAGTGGAACGTGAATGCTCCTCCCACATTTCACTCTGAGATGATGTAT c.1200
D E A T K W N V N A P P T F H S E M M Y p.400
. . . . . . g.48369
GACAATTTCACCCTGGTCCCTGTCTGGGGAAAGGAAGGCTATCTCCACGTCTGTTCCAAT c.1260
D N F T L V P V W G K E G Y L H V C S N p.420
. . . . . . g.48429
GGCCTCTGCTGTTATTTACTTTACGAGAGGCCCACCTTATCCAAAGAGCTGTATGCCCTG c.1320
G L C C Y L L Y E R P T L S K E L Y A L p.440
. . . . . . g.48489
GGGGTCTTTGATGGGCTTCACACAGTACATGGCACTTACTACATCCAAGTGTGTGCCCTG c.1380
G V F D G L H T V H G T Y Y I Q V C A L p.460
. . . . . . g.48549
GTCAGGTGTGGGGGTCTTGGCTTCGACACCTGTGGACAGGAAATCACAGAGGCCACGGGG c.1440
V R C G G L G F D T C G Q E I T E A T G p.480
. . . . . . g.48609
ATATTTGAGTTTCACCTGTGGGGCAACTTCAGTACTTCCTATATCTTTCCTTTGTTTCTG c.1500
I F E F H L W G N F S T S Y I F P L F L p.500
. . . . . . g.48669
ACCTCAGGGATGACCCTAGAAGTCCCTGACCAGCTTGGCTGGGAGAATGACCACTATTTC c.1560
T S G M T L E V P D Q L G W E N D H Y F p.520
. . . . . . g.48729
CTGAGGAAAAGTAGGCTGTCCTCTGGGCTGGTGACGGCGGCTCTCTATGGGCGCTTGTAT c.1620
L R K S R L S S G L V T A A L Y G R L Y p.540
. g.48741
GAGAGGGACTAG c.1632
E R D X p.543
. . . . . . g.48801
gaaaagtgtgtggtctgtggggcggactctggccatcatgttgacagccttgcacttcca c.*60
. . . . . . g.48861
caggctacaagccctgggaccatctttctgccttaagggcaggagcccacttctgtggca c.*120
. . . . . . g.48921
ccagattccaccctgggaactgtggaaaaagtaggagaggcagattccctcagtgtcttc c.*180
. . . . . . g.48981
ctcttaaacctcaatcatcgagacattagggggtattttctgttcacatttatctttttc c.*240
. . . . . . g.49041
aagccacatcttcctctaacaaatctctcagtatgcgattggtctcaagctaaaacaaaa c.*300
. . . g.49071
ataaatgtcagtttatattttacacatcca c.*330
(downstream sequence)
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