(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the CD19 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering CD19 transcript NM_001770.5.
(upstream sequence)
g.1180
ag c.-61
. . . . . . g.1240
gcccctgcctgccccagcatcccctgcgcgaagctgggtgccccggagagtctgaccacc c.-1
. . . . . . g.1300
ATGCCACCTCCTCGCCTCCTCTTCTTCCTCCTCTTCCTCACCCCCATGGAAGTCAGGCCC c.60
M P P P R L L F F L L F L T P M E V R P p.20
. . | 02 . . . g.1617
GAGGAACCTCTAGTGGTGAAGGTGGAAG | AGGGAGATAACGCTGTGCTGCAGTGCCTCAAG c.120
E E P L V V K V E E | G D N A V L Q C L K p.40
. . . . . . g.1677
GGGACCTCAGATGGCCCCACTCAGCAGCTGACCTGGTCTCGGGAGTCCCCGCTTAAACCC c.180
G T S D G P T Q Q L T W S R E S P L K P p.60
. . . . . . g.1737
TTCTTAAAACTCAGCCTGGGGCTGCCAGGCCTGGGAATCCACATGAGGCCCCTGGCCATC c.240
F L K L S L G L P G L G I H M R P L A I p.80
. . . . . . g.1797
TGGCTTTTCATCTTCAACGTCTCTCAACAGATGGGGGGCTTCTACCTGTGCCAGCCGGGG c.300
W L F I F N V S Q Q M G G F Y L C Q P G p.100
. . . . . | 03 . g.2155
CCCCCCTCTGAGAAGGCCTGGCAGCCTGGCTGGACAGTCAATGTGGAGGGCAGCG | GGGAG c.360
P P S E K A W Q P G W T V N V E G S G | E p.120
. . . . . . g.2215
CTGTTCCGGTGGAATGTTTCGGACCTAGGTGGCCTGGGCTGTGGCCTGAAGAACAGGTCC c.420
L F R W N V S D L G G L G C G L K N R S p.140
. . . . . . g.2275
TCAGAGGGCCCCAGCTCCCCTTCCGGGAAGCTCATGAGCCCCAAGCTGTATGTGTGGGCC c.480
S E G P S S P S G K L M S P K L Y V W A p.160
. . . . . . g.2335
AAAGACCGCCCTGAGATCTGGGAGGGAGAGCCTCCGTGTCTCCCACCGAGGGACAGCCTG c.540
K D R P E I W E G E P P C L P P R D S L p.180
. | 04 . . . . g.2514
AACCAGAGCCTCAGCCAGG | ACCTCACCATGGCCCCTGGCTCCACACTCTGGCTGTCCTGT c.600
N Q S L S Q D | L T M A P G S T L W L S C p.200
. . . . . . g.2574
GGGGTACCCCCTGACTCTGTGTCCAGGGGCCCCCTCTCCTGGACCCATGTGCACCCCAAG c.660
G V P P D S V S R G P L S W T H V H P K p.220
. . . . . . g.2634
GGGCCTAAGTCATTGCTGAGCCTAGAGCTGAAGGACGATCGCCCGGCCAGAGATATGTGG c.720
G P K S L L S L E L K D D R P A R D M W p.240
. . . . . . g.2694
GTAATGGAGACGGGTCTGTTGTTGCCCCGGGCCACAGCTCAAGACGCTGGAAAGTATTAT c.780
V M E T G L L L P R A T A Q D A G K Y Y p.260
. . . . . | 05 . g.4688
TGTCACCGTGGCAACCTGACCATGTCATTCCACCTGGAGATCACTGCTCGGCCAG | TACTA c.840
C H R G N L T M S F H L E I T A R P V | L p.280
. . . . . . g.4748
TGGCACTGGCTGCTGAGGACTGGTGGCTGGAAGGTCTCAGCTGTGACTTTGGCTTATCTG c.900
W H W L L R T G G W K V S A V T L A Y L p.300
. . . . | 06 . . g.5406
ATCTTCTGCCTGTGTTCCCTTGTGGGCATTCTTCATCTTCAAAGAG | CCCTGGTCCTGAGG c.960
I F C L C S L V G I L H L Q R A | L V L R p.320
. . . | 07 . . . g.5776
AGGAAAAGAAAGCGAATGACTGACCCCACCAGGAG | ATTCTTCAAAGTGACGCCTCCCCCA c.1020
R K R K R M T D P T R R | F F K V T P P P p.340
. . . . . . g.5836
GGAAGCGGGCCCCAGAACCAGTACGGGAACGTGCTGTCTCTCCCCACACCCACCTCAGGC c.1080
G S G P Q N Q Y G N V L S L P T P T S G p.360
| 08 . . . . . . g.6318
CTCG | GACGCGCCCAGCGTTGGGCCGCAGGCCTGGGGGGCACTGCCCCGTCTTATGGAAAC c.1140
L G | R A Q R W A A G L G G T A P S Y G N p.380
. . . . . | 09 g.6512
CCGAGCAGCGACGTCCAGGCGGATGGAGCCTTGGGGTCCCGGAGCCCGCCGGGAGTGG | GC c.1200
P S S D V Q A D G A L G S R S P P G V G | p.400
. . . . . . g.6572
CCAGAAGAAGAGGAAGGGGAGGGCTATGAGGAACCTGACAGTGAGGAGGACTCCGAGTTC c.1260
P E E E E G E G Y E E P D S E E D S E F p.420
. . . . | 10 . . g.6711
TATGAGAACGACTCCAACCTTGGGCAGGACCAGCTCTCCCAGG | ATGGCAGCGGCTACGAG c.1320
Y E N D S N L G Q D Q L S Q D | G S G Y E p.440
. . . . . | 11 . g.6871
AACCCTGAGGATGAGCCCCTGGGTCCTGAGGATGAAGACTCCTTCTCCAACG | CTGAGTCT c.1380
N P E D E P L G P E D E D S F S N A | E S p.460
. . . . | 12 . g.7019
TATGAGAACGAGGATGAAGAGCTGACCCAGCCGGTCGCCAGGACAATGG | ACTTCCTGAGC c.1440
Y E N E D E E L T Q P V A R T M D | F L S p.480
. . . . | 13 . . g.7929
CCTCATGGGTCAGCCTGGGACCCCAGCCGGGAAGCAACCTCCCTGG | GGTCCCAGTCCTAT c.1500
P H G S A W D P S R E A T S L G | S Q S Y p.500
. . . . . . g.7989
GAGGATATGAGAGGAATCCTGTATGCAGCCCCCCAGCTCCGCTCCATTCGGGGCCAGCCT c.1560
E D M R G I L Y A A P Q L R S I R G Q P p.520
. | 14 . . . . g.8152
GGACCCAATCATGAGGAAG | ATGCAGACTCTTATGAGAACATGGATAATCCCGATGGGCCA c.1620
G P N H E E D | A D S Y E N M D N P D G P p.540
. . . . . g.8203
GACCCAGCCTGGGGAGGAGGGGGCCGCATGGGCACCTGGAGCACCAGGTGA c.1671
D P A W G G G G R M G T W S T R X p.556
. | 15 . . . . . g.8425
tcctcaggtggccag | cctggatctcctcaagtccccaagattcacacctgactctgaaat c.*60
. . . . . . g.8485
ctgaagacctcgagcagatgatgccaacctctggagcaatgttgcttaggatgtgtgcat c.*120
. . . . . . g.8545
gtgtgtaagtgtgtgtgtgtgtgtgtgtgtgtatacatgccagtgacacttccagtcccc c.*180
. . . . g.8587
tttgtattccttaaataaactcaatgagctcttccaatccta c.*222
(downstream sequence)
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