(used for variant description)
(last modified September 14, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000061.2 in the BTK gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering BTK transcript NM_000061.2.
(upstream sequence)
. g.5013
aactgagtggctg c.-181
. . . . . . g.5073
tgaaagggtggggtttgctcagactgtccttcctctctggactgtaagaatatgtctcca c.-121
. . . . . . g.5133
gggccagtgtctgctgcgatcgagtcccaccttccaagtcctggcatctcaatgcatctg c.-61
. . . | 02 . . g.15940
ggaagctacctgcattaagtcaggactgag | cacacaggtgaactccagaaagaagaagct c.-1
. . . . . . g.16000
ATGGCCGCAGTGATTCTGGAGAGCATCTTTCTGAAGCGATCCCAACAGAAAAAGAAAACA c.60
M A A V I L E S I F L K R S Q Q K K K T p.20
. . . . . . g.16060
TCACCTCTAAACTTCAAGAAGCGCCTGTTTCTCTTGACCGTGCACAAACTCTCCTACTAT c.120
S P L N F K K R L F L L T V H K L S Y Y p.40
. . | 03 . . . . g.16629
GAGTATGACTTTGAACGTGGG | AGAAGAGGCAGTAAGAAGGGTTCAATAGATGTTGAGAAG c.180
E Y D F E R G | R R G S K K G S I D V E K p.60
. . . . . . g.16689
ATCACTTGTGTTGAAACAGTGGTTCCTGAAAAAAATCCTCCTCCAGAAAGACAGATTCCG c.240
I T C V E T V V P E K N P P P E R Q I P p.80
| 04 . . . . . . g.19583
| AGAAGAGGTGAAGAGTCCAGTGAAATGGAGCAAATTTCAATCATTGAAAGGTTCCCTTAT c.300
| R R G E E S S E M E Q I S I I E R F P Y p.100
| 05 . . . . . g.21196
CCCTTCCAG | GTTGTATATGATGAAGGGCCTCTCTACGTCTTCTCCCCAACTGAAGAACTA c.360
P F Q | V V Y D E G P L Y V F S P T E E L p.120
. . . | 06 . . . g.28564
AGGAAGCGGTGGATTCACCAGCTCAAAAACG | TAATCCGGTACAACAGTGATCTGGTTCAG c.420
R K R W I H Q L K N V | I R Y N S D L V Q p.140
. . . . . . g.28624
AAATATCACCCTTGCTTCTGGATCGATGGGCAGTATCTCTGCTGCTCTCAGACAGCCAAA c.480
K Y H P C F W I D G Q Y L C C S Q T A K p.160
. . . . | 07 . . g.29004
AATGCTATGGGCTGCCAAATTTTGGAGAACAGGAATGGAA | GCTTAAAACCTGGGAGTTCT c.540
N A M G C Q I L E N R N G S | L K P G S S p.180
. . . . | 08 . g.30481
CACCGGAAGACAAAAAAGCCTCTTCCCCCAACGCCTGAGGAGGACCAG | ATCTTGAAAAAG c.600
H R K T K K P L P P T P E E D Q | I L K K p.200
. . . . . . g.30541
CCACTACCGCCTGAGCCAGCAGCAGCACCAGTCTCCACAAGTGAGCTGAAAAAGGTTGTG c.660
P L P P E P A A A P V S T S E L K K V V p.220
. . . . . . g.30601
GCCCTTTATGATTACATGCCAATGAATGCAAATGATCTACAGCTGCGGAAGGGTGATGAA c.720
A L Y D Y M P M N A N D L Q L R K G D E p.240
. . . . . | 09 . g.31078
TATTTTATCTTGGAGGAAAGCAACTTACCATGGTGGAGAGCACGAGATAAAAATGG | GCAG c.780
Y F I L E E S N L P W W R A R D K N G | Q p.260
. . . . . | 10 g.31878
GAAGGCTACATTCCTAGTAACTATGTCACTGAAGCAGAAGACTCCATAGAAATGTATGA | G c.840
E G Y I P S N Y V T E A E D S I E M Y E | p.280
. . . . . | 11 . g.32534
TGGTATTCCAAACACATGACTCGGAGTCAGGCTGAGCAACTGCTAAAGCAAGAG | GGGAAA c.900
W Y S K H M T R S Q A E Q L L K Q E | G K p.300
. . . . . . g.32594
GAAGGAGGTTTCATTGTCAGAGACTCCAGCAAAGCTGGCAAATATACAGTGTCTGTGTTT c.960
E G G F I V R D S S K A G K Y T V S V F p.320
. | 12 . . . . . g.32833
GCTAAATCCACAGG | GGACCCTCAAGGGGTGATACGTCATTATGTTGTGTGTTCCACACCT c.1020
A K S T G | D P Q G V I R H Y V V C S T P p.340
. . . . . . g.32893
CAGAGCCAGTATTACCTGGCTGAGAAGCACCTTTTCAGCACCATCCCTGAGCTCATTAAC c.1080
Q S Q Y Y L A E K H L F S T I P E L I N p.360
. . | 13 . . . . g.33679
TACCATCAGCACAACTCTGCAG | GACTCATATCCAGGCTCAAATATCCAGTGTCTCAACAA c.1140
Y H Q H N S A G | L I S R L K Y P V S Q Q p.380
. . . | 14. . . g.34292
AACAAGAATGCACCTTCCACTGCAGGCCTGGGATACG | GATCATGGGAAATTGATCCAAAG c.1200
N K N A P S T A G L G Y G | S W E I D P K p.400
. . . . . . g.34352
GACCTGACCTTCTTGAAGGAGCTGGGGACTGGACAATTTGGGGTAGTGAAGTATGGGAAA c.1260
D L T F L K E L G T G Q F G V V K Y G K p.420
. . . . . . g.34412
TGGAGAGGCCAGTACGACGTGGCCATCAAGATGATCAAAGAAGGCTCCATGTCTGAAGAT c.1320
W R G Q Y D V A I K M I K E G S M S E D p.440
. . | 15 . . . g.34987
GAATTCATTGAAGAAGCCAAAGTCATGAT | GAATCTTTCCCATGAGAAGCTGGTGCAGTTG c.1380
E F I E E A K V M M | N L S H E K L V Q L p.460
. . . . . . g.35047
TATGGCGTCTGCACCAAGCAGCGCCCCATCTTCATCATCACTGAGTACATGGCCAATGGC c.1440
Y G V C T K Q R P I F I I T E Y M A N G p.480
. . . . . . g.35107
TGCCTCCTGAACTACCTGAGGGAGATGCGCCACCGCTTCCAGACTCAGCAGCTGCTAGAG c.1500
C L L N Y L R E M R H R F Q T Q Q L L E p.500
. . . . . . g.35167
ATGTGCAAGGATGTCTGTGAAGCCATGGAATACCTGGAGTCAAAGCAGTTCCTTCACCGA c.1560
M C K D V C E A M E Y L E S K Q F L H R p.520
| 16 . . . . . . g.36584
GACCTG | GCAGCTCGAAACTGTTTGGTAAACGATCAAGGAGTTGTTAAAGTATCTGATTTC c.1620
D L | A A R N C L V N D Q G V V K V S D F p.540
. | 17 . . . . . g.37285
GGCCTGTCCAG | GTATGTCCTGGATGATGAATACACAAGCTCAGTAGGCTCCAAATTTCCA c.1680
G L S R | Y V L D D E Y T S S V G S K F P p.560
. . . . . . g.37345
GTCCGGTGGTCCCCACCGGAAGTCCTGATGTATAGCAAGTTCAGCAGCAAATCTGACATT c.1740
V R W S P P E V L M Y S K F S S K S D I p.580
. | 18 . . . . . g.37923
TGGGCTTTTG | GGGTTTTGATGTGGGAAATTTACTCCCTGGGGAAGATGCCATATGAGAGA c.1800
W A F G | V L M W E I Y S L G K M P Y E R p.600
. . . . . . g.37983
TTTACTAACAGTGAGACTGCTGAACACATTGCCCAAGGCCTACGTCTCTACAGGCCTCAT c.1860
F T N S E T A E H I A Q G L R L Y R P H p.620
. . . . | 19 . g.41280
CTGGCTTCAGAGAAGGTATATACCATCATGTACAGTTGCTGGCATGAG | AAAGCAGATGAG c.1920
L A S E K V Y T I M Y S C W H E | K A D E p.640
. . . . . . g.41340
CGTCCCACTTTCAAAATTCTTCTGAGCAATATTCTAGATGTCATGGATGAAGAATCCTGA c.1980
R P T F K I L L S N I L D V M D E E S X p.659
. . . . . . g.41400
gctcgccaataagcttcttggttctacttctcttctccacaagccccaatttcactttct c.*60
. . . . . . g.41460
cagaggaaatcccaagcttaggagccctggagcctttgtgctcccactcaatacaaaaag c.*120
. . . . . . g.41520
gcccctctctacatctgggaatgcacctcttctttgattccctgggatagtggcttctga c.*180
. . . . . . g.41580
gcaaaggccaagaaattattgtgcctgaaatttcccgagagaattaagacagactgaatt c.*240
. . . . . . g.41640
tgcgatgaaaatattttttaggagggaggatgtaaatagccgcacaaaggggtccaacag c.*300
. . . . . . g.41700
ctctttgagtaggcatttggtagagcttgggggtgtgtgtgtgggggtggaccgaatttg c.*360
. . . . . . g.41760
gcaagaatgaaatggtgtcataaagatgggaggggagggtgttttgataaaataaaatta c.*420
. g.41778
ctagaaagcttgaaagtc c.*438
(downstream sequence)
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