(used for variant description)
(last modified September 23, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000022.2 in the ADA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007385.1, covering ADA transcript NM_000022.2.
(upstream sequence)
g.5008
ggcccgtt c.-121
. . . . . . g.5068
aagaagagcgtggccggccgcggccaccgctggccccagggaaagccgagcggccaccga c.-61
. . . . . . g.5128
gccggcagagacccaccgagcggcggcggagggagcagcgccggggcgcacgagggcacc c.-1
. . . | 02 . . . g.20474
ATGGCCCAGACGCCCGCCTTCGACAAGCCCAAA | GTAGAACTGCATGTCCACCTAGACGGA c.60
M A Q T P A F D K P K | V E L H V H L D G p.20
. . . | 03 . . . g.27591
TCCATCAAGCCTGAAACCATCTTATACTATGGCAG | GAGGAGAGGGATCGCCCTCCCAGCT c.120
S I K P E T I L Y Y G R | R R G I A L P A p.40
. . . . . . g.27651
AACACAGCAGAGGGGCTGCTGAACGTCATTGGCATGGACAAGCCGCTCACCCTTCCAGAC c.180
N T A E G L L N V I G M D K P L T L P D p.60
. . . | 04 . . g.30158
TTCCTGGCCAAGTTTGACTACTACATGCCTGCTATCGC | GGGCTGCCGGGAGGCTATCAAA c.240
F L A K F D Y Y M P A I A | G C R E A I K p.80
. . . . . . g.30218
AGGATCGCCTATGAGTTTGTAGAGATGAAGGCCAAAGAGGGCGTGGTGTATGTGGAGGTG c.300
R I A Y E F V E M K A K E G V V Y V E V p.100
. . . . . . g.30278
CGGTACAGTCCGCACCTGCTGGCCAACTCCAAAGTGGAGCCAATCCCCTGGAACCAGGCT c.360
R Y S P H L L A N S K V E P I P W N Q A p.120
| 05 . . . . . . g.31109
GA | AGGGGACCTCACCCCAGACGAGGTGGTGGCCCTAGTGGGCCAGGGCCTGCAGGAGGGG c.420
E | G D L T P D E V V A L V G Q G L Q E G p.140
. . . . . | 06 g.32408
GAGCGAGACTTCGGGGTCAAGGCCCGGTCCATCCTGTGCTGCATGCGCCACCAGCCCA | AC c.480
E R D F G V K A R S I L C C M R H Q P N | p.160
. . . . . . g.32468
TGGTCCCCCAAGGTGGTGGAGCTGTGTAAGAAGTACCAGCAGCAGACCGTGGTAGCCATT c.540
W S P K V V E L C K K Y Q Q Q T V V A I p.180
. . . . . . g.32528
GACCTGGCTGGAGATGAGACCATCCCAGGAAGCAGCCTCTTGCCTGGACATGTCCAGGCC c.600
D L A G D E T I P G S S L L P G H V Q A p.200
| 07 . . . . . . g.33711
TACCAG | GAGGCTGTGAAGAGCGGCATTCACCGTACTGTCCACGCCGGGGAGGTGGGCTCG c.660
Y Q | E A V K S G I H R T V H A G E V G S p.220
. | 08 . . . . g.33847
GCCGAAGTAGTAAAAGAG | GCTGTGGACATACTCAAGACAGAGCGGCTGGGACACGGCTAC c.720
A E V V K E | A V D I L K T E R L G H G Y p.240
. . . . . . g.33907
CACACCCTGGAAGACCAGGCCCTTTATAACAGGCTGCGGCAGGAAAACATGCACTTCGAG c.780
H T L E D Q A L Y N R L R Q E N M H F E p.260
| 09 . . . . . . g.34143
| ATCTGCCCCTGGTCCAGCTACCTCACTGGTGCCTGGAAGCCGGACACGGAGCATGCAGTC c.840
| I C P W S S Y L T G A W K P D T E H A V p.280
| 10 . . . . . . g.35643
ATTCG | GCTCAAAAATGACCAGGCTAACTACTCGCTCAACACAGATGACCCGCTCATCTTC c.900
I R | L K N D Q A N Y S L N T D D P L I F p.300
. . . . . . g.35703
AAGTCCACCCTGGACACTGATTACCAGATGACCAAACGGGACATGGGCTTTACTGAAGAG c.960
K S T L D T D Y Q M T K R D M G F T E E p.320
. | 11 . . . . . g.36379
GAGTTTAAAAGGCTG | AACATCAATGCGGCCAAATCTAGTTTCCTCCCAGAAGATGAAAAG c.1020
E F K R L | N I N A A K S S F L P E D E K p.340
. . . . . | 12 g.36890
AGGGAGCTTCTCGACCTGCTCTATAAAGCCTATGGGATGCCACCTTCAGCCTCTGCAG | GG c.1080
R E L L D L L Y K A Y G M P P S A S A G | p.360
. g.36902
CAGAACCTCTGA c.1092
Q N L X p.363
. . . . . . g.36962
agacgccactcctccaagccttcaccctgtggagtcaccccaactctgtggggctgagca c.*60
. . . . . . g.37022
acatttttacatttattccttccaagaagaccatgatctcaatagtcagttactgatgct c.*120
. . . . . . g.37082
cctgaaccctatgtgtccatttctgcacacacgtatacctcggcatggccgcgtcacttc c.*180
. . . . . . g.37142
tctgattatgtgccctggccagggaccagcgcccttgcacatgggcatggttgaatctga c.*240
. . . . . . g.37202
aaccctccttctgtggcaacttgtactgaaaatctggtgctcaataaagaagcccatggc c.*300
. g.37214
tggtggcatgca c.*312
(downstream sequence)
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