(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the ZAP70 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering ZAP70 transcript NM_001079.3.
(upstream sequence)
. . g.1027
aataggttagtttcagacaagcctgct c.-181
. . . . . . g.1087
tgccggagctcagcagacaccaggccttccgggcaggcctggcccaccgtgggcctcaga c.-121
. . | 02 . . . g.1388
gctgctgctggggcattcag | aaccggctctccattggcattgggaccagagaccccgcaa c.-61
. . . . | 03 . g.11469
gtggcctgtttgcctggacatccacctgtacgtccccag | gtttcgggaggcccaggggcg c.-1
. . . . . . g.11529
ATGCCAGACCCCGCGGCGCACCTGCCCTTCTTCTACGGCAGCATCTCGCGTGCCGAGGCC c.60
M P D P A A H L P F F Y G S I S R A E A p.20
. . . . . . g.11589
GAGGAGCACCTGAAGCTGGCGGGCATGGCGGACGGGCTCTTCCTGCTGCGCCAGTGCCTG c.120
E E H L K L A G M A D G L F L L R Q C L p.40
. . . . . . g.11649
CGCTCGCTGGGCGGCTATGTGCTGTCGCTCGTGCACGATGTGCGCTTCCACCACTTTCCC c.180
R S L G G Y V L S L V H D V R F H H F P p.60
. . . . . . g.11709
ATCGAGCGCCAGCTCAACGGCACCTACGCCATTGCCGGCGGCAAAGCGCACTGTGGACCG c.240
I E R Q L N G T Y A I A G G K A H C G P p.80
. . . . . . g.11769
GCAGAGCTCTGCGAGTTCTACTCGCGCGACCCCGACGGGCTGCCCTGCAACCTGCGCAAG c.300
A E L C E F Y S R D P D G L P C N L R K p.100
. . . . . . g.11829
CCGTGCAACCGGCCGTCGGGCCTCGAGCCGCAGCCGGGGGTCTTCGACTGCCTGCGAGAC c.360
P C N R P S G L E P Q P G V F D C L R D p.120
. . . . | 04 . . g.12542
GCCATGGTGCGTGACTACGTGCGCCAGACGTGGAAGCTGGAG | GGCGAGGCCCTGGAGCAG c.420
A M V R D Y V R Q T W K L E | G E A L E Q p.140
. . . . . . g.12602
GCCATCATCAGCCAGGCCCCGCAGGTGGAGAAGCTCATTGCTACGACGGCCCACGAGCGG c.480
A I I S Q A P Q V E K L I A T T A H E R p.160
. . . . . . g.12662
ATGCCCTGGTACCACAGCAGCCTGACGCGTGAGGAGGCCGAGCGCAAACTTTACTCTGGG c.540
M P W Y H S S L T R E E A E R K L Y S G p.180
. . | 05 . . . . g.20352
GCGCAGACCGACGGCAAGTTCCT | GCTGAGGCCGCGGAAGGAGCAGGGCACATACGCCCTG c.600
A Q T D G K F L | L R P R K E Q G T Y A L p.200
. . . . . . g.20412
TCCCTCATCTATGGGAAGACGGTGTACCACTACCTCATCAGCCAAGACAAGGCGGGCAAG c.660
S L I Y G K T V Y H Y L I S Q D K A G K p.220
. . . . | 06 . . g.20575
TACTGCATTCCCGAGGGCACCAAGTTTGACACGCTCTGGCAG | CTGGTGGAGTATCTGAAG c.720
Y C I P E G T K F D T L W Q | L V E Y L K p.240
. . . . . . g.20635
CTGAAGGCGGACGGGCTCATCTACTGCCTGAAGGAGGCCTGCCCCAACAGCAGTGCCAGC c.780
L K A D G L I Y C L K E A C P N S S A S p.260
. | 07 . . . . | 08. g.20979
AACGCCTCAG | GGGCTGCTGCTCCCACACTCCCAGCCCACCCATCCACGTTGACTCAT | CCT c.840
N A S G | A A A P T L P A H P S T L T H | P p.280
. . . . | 09 . g.21963
CAGAGACGAATCGACACCCTCAACTCAGATGGATACACCCCTGAGCCAG | CACGCATAACG c.900
Q R R I D T L N S D G Y T P E P A | R I T p.300
. . . . . . g.22023
TCCCCAGACAAACCGCGGCCGATGCCCATGGACACGAGCGTGTATGAGAGCCCCTACAGC c.960
S P D K P R P M P M D T S V Y E S P Y S p.320
. . . . . . g.22083
GACCCAGAGGAGCTCAAGGACAAGAAGCTCTTCCTGAAGCGCGATAACCTCCTCATAGCT c.1020
D P E E L K D K K L F L K R D N L L I A p.340
. . . . . . g.22143
GACATTGAACTTGGCTGCGGCAACTTTGGCTCAGTGCGCCAGGGCGTGTACCGCATGCGC c.1080
D I E L G C G N F G S V R Q G V Y R M R p.360
| 10 . . . . . . g.22740
AA | GAAGCAGATCGACGTGGCCATCAAGGTGCTGAAGCAGGGCACGGAGAAGGCAGACACG c.1140
K | K Q I D V A I K V L K Q G T E K A D T p.380
. . . . . . g.22800
GAAGAGATGATGCGCGAGGCGCAGATCATGCACCAGCTGGACAACCCCTACATCGTGCGG c.1200
E E M M R E A Q I M H Q L D N P Y I V R p.400
. . . . . . g.22860
CTCATTGGCGTCTGCCAGGCCGAGGCCCTCATGCTGGTCATGGAGATGGCTGGGGGCGGG c.1260
L I G V C Q A E A L M L V M E M A G G G p.420
. . | 11 . . . g.24936
CCGCTGCACAAGTTCCTGGTCGGCAAGAG | GGAGGAGATCCCTGTGAGCAATGTGGCCGAG c.1320
P L H K F L V G K R | E E I P V S N V A E p.440
. . . . . . g.24996
CTGCTGCACCAGGTGTCCATGGGGATGAAGTACCTGGAGGAGAAGAACTTTGTGCACCGT c.1380
L L H Q V S M G M K Y L E E K N F V H R p.460
. . . . . . g.25056
GACCTGGCGGCCCGCAACGTCCTGCTGGTTAACCGGCACTACGCCAAGATCAGCGACTTT c.1440
D L A A R N V L L V N R H Y A K I S D F p.480
. . . . | 12 . . g.25207
GGCCTCTCCAAAGCACTGGGTGCCGACGACAGCTACTACACT | GCCCGCTCAGCAGGGAAG c.1500
G L S K A L G A D D S Y Y T | A R S A G K p.500
. . . . . . g.25267
TGGCCGCTCAAGTGGTACGCACCCGAATGCATCAACTTCCGCAAGTTCTCCAGCCGCAGC c.1560
W P L K W Y A P E C I N F R K F S S R S p.520
. . . . . . g.25327
GATGTCTGGAGCTATGGGGTCACCATGTGGGAGGCCTTGTCCTACGGCCAGAAGCCCTAC c.1620
D V W S Y G V T M W E A L S Y G Q K P Y p.540
| 13 . . . . . . g.25484
AAG | AAGATGAAAGGGCCGGAGGTCATGGCCTTCATCGAGCAGGGCAAGCGGATGGAGTGC c.1680
K | K M K G P E V M A F I E Q G K R M E C p.560
. . . . . | 14 . g.26811
CCACCAGAGTGTCCACCCGAACTGTACGCACTCATGAGTGACTGCTGGATCTACAA | GTGG c.1740
P P E C P P E L Y A L M S D C W I Y K | W p.580
. . . . . . g.26871
GAGGATCGCCCCGACTTCCTGACCGTGGAGCAGCGCATGCGAGCCTGTTACTACAGCCTG c.1800
E D R P D F L T V E Q R M R A C Y Y S L p.600
. . . . . . g.26931
GCCAGCAAGGTGGAAGGGCCCCCAGGCAGCACACAGAAGGCTGAGGCTGCCTGTGCCTGA c.1860
A S K V E G P P G S T Q K A E A A C A X p.619
. . . . . . g.26991
gctcccgctgcccaggggagccctccacgccggctcttccccaccctcagccccacccca c.*60
. . . . . . g.27051
ggtcctgcagtctggctgagccctgcttggttgtctccacacacagctgggctgtggtag c.*120
. . . . . . g.27111
ggggtgtctcaggccacaccggccttgcattgcctgcctggccccctgtcctctctggct c.*180
. . . . . . g.27171
ggggagcagggaggtccgggagggtgcggctgtgcagcctgtcctgggctggtggctccc c.*240
. . . . . . g.27231
ggagggccctgagctgagggcattgcttacacggatgccttcccctgggccctgacattg c.*300
. . . . . . g.27291
gagcctgggcatcctcaggtggtcaggcgtagatcaccagaataaacccagcttccctct c.*360
g.27293
tg c.*362
(downstream sequence)
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