(used for variant description)
(last modified June 6, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_000215.3 in the JAK3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007273.1, covering JAK3 transcript NM_000215.3.
(upstream sequence)
. . . . g.4999
cacacaggaaggagccgagtgggactttcctctcgctgcc c.-61
. . . . . | 02 . g.8574
tcccggctctgcccgcccttcgaaagtccagggtccctgcccgctag | gcaagttgcactc c.-1
. . . . . . g.8634
ATGGCACCTCCAAGTGAAGAGACGCCCCTGATCCCTCAGCGTTCATGCAGCCTCTTGTCC c.60
M A P P S E E T P L I P Q R S C S L L S p.20
. . . . . . g.8694
ACGGAGGCTGGTGCCCTGCATGTGCTGCTGCCCGCTCGGGGCCCCGGGCCCCCCCAGCGC c.120
T E A G A L H V L L P A R G P G P P Q R p.40
. . . . . . g.8754
CTATCTTTCTCCTTTGGGGACCACTTGGCTGAGGACCTGTGCGTGCAGGCTGCCAAGGCC c.180
L S F S F G D H L A E D L C V Q A A K A p.60
| 03 . . . . . . g.9147
AGCG | GCATCCTGCCTGTGTACCACTCCCTCTTTGCTCTGGCCACGGAGGACCTGTCCTGC c.240
S G | I L P V Y H S L F A L A T E D L S C p.80
. . . . . . g.9207
TGGTTCCCCCCGAGCCACATCTTCTCCGTGGAGGATGCCAGCACCCAAGTCCTGCTGTAC c.300
W F P P S H I F S V E D A S T Q V L L Y p.100
| 04 . . . . . g.9552
AGGATTCG | CTTTTACTTCCCCAATTGGTTTGGGCTGGAGAAGTGCCACCGCTTCGGGCTA c.360
R I R | F Y F P N W F G L E K C H R F G L p.120
. . . . . . g.9612
CGCAAGGATTTGGCCAGTGCTATCCTTGACCTGCCAGTCCTGGAGCACCTCTTTGCCCAG c.420
R K D L A S A I L D L P V L E H L F A Q p.140
| 05 . . . . . . g.9879
| CACCGCAGTGACCTGGTGAGTGGGCGCCTCCCCGTGGGCCTCAGTCTCAAGGAGCAGGGT c.480
| H R S D L V S G R L P V G L S L K E Q G p.160
. . . . . . g.9939
GAGTGTCTCAGCCTGGCCGTGTTGGACCTGGCCCGGATGGCGCGAGAGCAGGCCCAGCGG c.540
E C L S L A V L D L A R M A R E Q A Q R p.180
. . | 06 . . . . g.10415
CCGGGAGAGCTGCTGAAGACTGTCAG | CTACAAGGCCTGCCTACCCCCAAGCCTGCGCGAC c.600
P G E L L K T V S | Y K A C L P P S L R D p.200
. . . . . . g.10475
CTGATCCAGGGCCTGAGCTTCGTGACGCGGAGGCGTATTCGGAGGACGGTGCGCAGAGCC c.660
L I Q G L S F V T R R R I R R T V R R A p.220
. . . . . . g.10535
CTGCGCCGCGTGGCCGCCTGCCAGGCAGACCGGCACTCGCTCATGGCCAAGTACATCATG c.720
L R R V A A C Q A D R H S L M A K Y I M p.240
. . . . . . g.10595
GACCTGGAGCGGCTGGATCCAGCCGGGGCCGCCGAGACCTTCCACGTGGGCCTCCCTGGG c.780
D L E R L D P A G A A E T F H V G L P G p.260
. . . . . . g.10655
GCCCTTGGTGGCCACGACGGGCTGGGGCTGCTCCGCGTGGCTGGTGACGGCGGCATCGCC c.840
A L G G H D G L G L L R V A G D G G I A p.280
. . | 07 . . . . g.11268
TGGACCCAGGGAGAACAGGAG | GTCCTCCAGCCCTTCTGCGACTTTCCAGAAATCGTAGAC c.900
W T Q G E Q E | V L Q P F C D F P E I V D p.300
. . . . . . g.11328
ATTAGCATCAAGCAGGCCCCGCGCGTTGGCCCGGCCGGAGAGCACCGCCTGGTCACTGTT c.960
I S I K Q A P R V G P A G E H R L V T V p.320
. . | 08 . . . . g.11481
ACCAGGACAGACAACCAGATTTTA | GAGGCCGAGTTCCCAGGGCTGCCCGAGGCTCTGTCG c.1020
T R T D N Q I L | E A E F P G L P E A L S p.340
. . . . . . g.11541
TTCGTGGCGCTCGTGGACGGCTACTTCCGGCTGACCACGGACTCCCAGCACTTCTTCTGC c.1080
F V A L V D G Y F R L T T D S Q H F F C p.360
. . . . . . g.11601
AAGGAGGTGGCACCGCCGAGGCTGCTGGAGGAAGTGGCCGAGCAGTGCCACGGCCCCATC c.1140
K E V A P P R L L E E V A E Q C H G P I p.380
| 09 . . . . . . g.12708
AC | TCTGGACTTTGCCATCAACAAGCTCAAGACTGGGGGCTCACGTCCTGGCTCCTATGTT c.1200
T | L D F A I N K L K T G G S R P G S Y V p.400
. . . . . | 10 . g.13334
CTCCGCCGCAGCCCCCAGGACTTTGACAGCTTCCTCCTCACTGTCTGTGTCCAG | AACCCC c.1260
L R R S P Q D F D S F L L T V C V Q | N P p.420
. . . . . . g.13394
CTTGGTCCTGATTATAAGGGCTGCCTCATCCGGCGCAGCCCCACAGGAACCTTCCTTCTG c.1320
L G P D Y K G C L I R R S P T G T F L L p.440
. . . . . . g.13454
GTTGGCCTCAGCCGACCCCACAGCAGTCTTCGAGAGCTCCTGGCAACCTGCTGGGATGGG c.1380
V G L S R P H S S L R E L L A T C W D G p.460
. . . . . . g.13514
GGGCTGCACGTAGATGGGGTGGCAGTGACCCTCACTTCCTGCTGTATCCCCAGACCCAAA c.1440
G L H V D G V A V T L T S C C I P R P K p.480
| 11 . . . . . . g.14660
G | AAAAGTCCAACCTGATCGTGGTCCAGAGAGGTCACAGCCCACCCACATCATCCTTGGTT c.1500
E | K S N L I V V Q R G H S P P T S S L V p.500
. . . . . . g.14720
CAGCCCCAATCCCAATACCAGCTGAGTCAGATGACATTTCACAAGATCCCTGCTGACAGC c.1560
Q P Q S Q Y Q L S Q M T F H K I P A D S p.520
| 12 . . . . . g.14979
CTGGAGTGG | CATGAGAACCTGGGCCATGGGTCCTTCACCAAGATTTACCGGGGCTGTCGC c.1620
L E W | H E N L G H G S F T K I Y R G C R p.540
. . . . . . g.15039
CATGAGGTGGTGGATGGGGAGGCCCGAAAGACAGAGGTGCTGCTGAAGGTCATGGATGCC c.1680
H E V V D G E A R K T E V L L K V M D A p.560
. . | 13 . . . . g.15817
AAGCACAAGAACTGCATGGAG | TCATTCCTGGAAGCAGCGAGCTTGATGAGCCAAGTGTCG c.1740
K H K N C M E | S F L E A A S L M S Q V S p.580
. . . . | 14 . . g.16954
TACCGGCATCTCGTGCTGCTCCACGGCGTGTGCATGGCTGGAGACA | GCACCATGGTGCAG c.1800
Y R H L V L L H G V C M A G D S | T M V Q p.600
. . . . . . g.17014
GAATTTGTACACCTGGGGGCCATAGACATGTATCTGCGAAAACGTGGCCACCTGGTGCCA c.1860
E F V H L G A I D M Y L R K R G H L V P p.620
. . . . . | 15 . g.17782
GCCAGCTGGAAGCTGCAGGTGGTCAAACAGCTGGCCTACGCCCTCAACTATCTG | GAGGAC c.1920
A S W K L Q V V K Q L A Y A L N Y L | E D p.640
. . . . . . g.17842
AAAGGCCTGCCCCATGGCAATGTCTCTGCCCGGAAGGTGCTCCTGGCTCGGGAGGGGGCT c.1980
K G L P H G N V S A R K V L L A R E G A p.660
. . . . . . g.17902
GATGGGAGCCCGCCCTTCATCAAGCTGAGTGACCCTGGGGTCAGCCCCGCTGTGTTAAGC c.2040
D G S P P F I K L S D P G V S P A V L S p.680
| 16. . . . . . g.18041
CTGGAGA | TGCTCACCGACAGGATCCCCTGGGTGGCCCCCGAGTGTCTCCGGGAGGCGCAG c.2100
L E M | L T D R I P W V A P E C L R E A Q p.700
. . . . . . g.18101
ACACTTAGCTTGGAAGCTGACAAGTGGGGCTTCGGCGCCACGGTCTGGGAAGTGTTTAGT c.2160
T L S L E A D K W G F G A T V W E V F S p.720
. . . | 17 . . g.18291
GGCGTCACCATGCCCATCAGTGCCCTGGATCCTGCTAAG | AAACTCCAATTTTATGAGGAC c.2220
G V T M P I S A L D P A K | K L Q F Y E D p.740
. . . . . . g.18351
CGGCAGCAGCTGCCGGCCCCCAAGTGGACAGAGCTGGCCCTGCTGATTCAACAGTGCATG c.2280
R Q Q L P A P K W T E L A L L I Q Q C M p.760
. . . . . . g.18411
GCCTATGAGCCGGTCCAGAGGCCCTCCTTCCGAGCCGTCATTCGTGACCTCAATAGCCTC c.2340
A Y E P V Q R P S F R A V I R D L N S L p.780
. | 18 . . . . . g.20112
ATCTCTTCAG | ACTATGAGCTCCTCTCAGACCCCACACCTGGTGCCCTGGCACCTCGTGAT c.2400
I S S D | Y E L L S D P T P G A L A P R D p.800
. . . . . . g.20172
GGGCTGTGGAATGGTGCCCAGCTCTATGCCTGCCAAGACCCCACGATCTTCGAGGAGAGA c.2460
G L W N G A Q L Y A C Q D P T I F E E R p.820
. . . | 19 . . . g.20313
CACCTCAAGTACATCTCACAGCTGGGCAAG | GGCAACTTTGGCAGCGTGGAGCTGTGCCGC c.2520
H L K Y I S Q L G K | G N F G S V E L C R p.840
. . . . . . g.20373
TATGACCCGCTAGGCGACAATACAGGTGCCCTGGTGGCCGTGAAACAGCTGCAGCACAGC c.2580
Y D P L G D N T G A L V A V K Q L Q H S p.860
. . . . . . g.20433
GGGCCAGACCAGCAGAGGGACTTTCAGCGGGAGATTCAGATCCTCAAAGCACTGCACAGT c.2640
G P D Q Q R D F Q R E I Q I L K A L H S p.880
. . . . | 20 . . g.21213
GATTTCATTGTCAAGTATCGTGGTGTCAGCTATGGCCCGG | GCCGCCAGAGCCTGCGGCTG c.2700
D F I V K Y R G V S Y G P G | R Q S L R L p.900
. . . . . . g.21273
GTCATGGAGTACCTGCCCAGCGGCTGCTTGCGCGACTTCCTGCAGCGGCACCGCGCGCGC c.2760
V M E Y L P S G C L R D F L Q R H R A R p.920
. . . . | 21 . . g.21606
CTCGATGCCAGCCGCCTCCTTCTCTATTCCTCGCAGATCTGCAAG | GGCATGGAGTACCTG c.2820
L D A S R L L L Y S S Q I C K | G M E Y L p.940
. . . . . . g.21666
GGCTCCCGCCGCTGCGTGCACCGCGACCTGGCCGCCCGAAACATCCTCGTGGAGAGCGAG c.2880
G S R R C V H R D L A A R N I L V E S E p.960
. . . . . . g.21726
GCACACGTCAAGATCGCTGACTTCGGCCTAGCTAAGCTGCTGCCGCTTGACAAAGACTAC c.2940
A H V K I A D F G L A K L L P L D K D Y p.980
. . . | 22 . . g.22393
TACGTGGTCCGCGAGCCAGGCCAGAGCCCCATTTTCTG | GTATGCCCCCGAATCCCTCTCG c.3000
Y V V R E P G Q S P I F W | Y A P E S L S p.1000
. . . . . . g.22453
GACAACATCTTCTCTCGCCAGTCAGACGTCTGGAGCTTCGGGGTCGTCCTGTACGAGCTC c.3060
D N I F S R Q S D V W S F G V V L Y E L p.1020
. . . | 23 . . . g.22797
TTCACCTACTGCGACAAAAGCTGCAGCCCCTCGGCC | GAGTTCCTGCGGATGATGGGATGT c.3120
F T Y C D K S C S P S A | E F L R M M G C p.1040
. . . . . . g.22857
GAGCGGGATGTCCCCGCCCTCTGCCGCCTCTTGGAACTGCTGGAGGAGGGCCAGAGGCTG c.3180
E R D V P A L C R L L E L L E E G Q R L p.1060
. . | 24. . . . g.26114
CCGGCGCCTCCTGCCTGCCCTGCTGAG | GTTCACGAGCTCATGAAGCTGTGCTGGGCCCCT c.3240
P A P P A C P A E | V H E L M K L C W A P p.1080
. . . . . . g.26174
AGCCCACAGGACCGGCCATCATTCAGCGCCCTGGGCCCCCAGCTGGACATGCTGTGGAGC c.3300
S P Q D R P S F S A L G P Q L D M L W S p.1100
. . . . . . g.26234
GGAAGCCGGGGGTGTGAGACTCATGCCTTCACTGCTCACCCAGAGGGCAAACACCACTCC c.3360
G S R G C E T H A F T A H P E G K H H S p.1120
. g.26249
CTGTCCTTTTCATAG c.3375
L S F S X p.1124
. . . . . . g.26309
ctcctgcccgcagacctctggattaggtctctgttgactggctgtgtgaccttaggcccg c.*60
. . . . . . g.26369
gagctgcccctctctgggcctcagaggccttatgagggtcctctacttcaggaacacccc c.*120
. . . . . . g.26429
catgacattgcatttgggggggctcccgtggcctgtagaatagcctgtggcctttgcaat c.*180
. . . . . . g.26489
ttgttaaggttcaagacagatgggcatatgtgtcagtggggctctctgagtcctggccca c.*240
. . . . . . g.26549
aagaagcaaggaaccaaatttaagactctcgcatcttcccaaccccttaagccctggccc c.*300
. . . . . . g.26609
cctgagtttccttttctgtctctctctttttattttttttatttttatttttatttttga c.*360
. . . . . . g.26669
gacagagcctcgctctgttacccagggtggagtgcagtggtgcgatctcggctcagtgca c.*420
. . . . . . g.26729
acctctgcttcccaggttcaagcgattctcctgcctcagcctcccgagtagctgggatta c.*480
. . . . . . g.26789
caggtgtgcaccaccacacccggctaattttttttatttttaatagagatgaggtttcac c.*540
. . . . . . g.26849
catgatggccaggctgatctcgaactcctaacctcaagtgatcctcccacctcagcctcc c.*600
. . . . . . g.26909
caaagtgttggaataataggcatgagccactgcacccaggcttttttttttttaaattta c.*660
. . . . . . g.26969
ttattattatttttaagagacaggatcttgctacgttgcccaggctggtcttgaactcct c.*720
. . . . . . g.27029
gggctacagtgatcctcctgccttatcctcctaaatagctgggactacagcacctagttt c.*780
. . . . . . g.27089
tgagtttcctgtcttatttccaatggggacattcatgtagcttttttttttttttttttt c.*840
. . . . . . g.27149
ttgagacggagtctcgctctgtcgcccaggctggagtacagtggcgcaatctaggctcac c.*900
. . . . . . g.27209
tgcaagctccgcctcctgggttcacaccattctctcgcctcagcctcccaagtagctggg c.*960
. . . . . . g.27269
actacaggcgcccgccaccacacccggctaattttttgtatttttagtagagacggggtt c.*1020
. . . . . . g.27329
tcaccttgttagccaggatggtttccatctcctgacctcgtgatctgcccgtctcggcct c.*1080
. . . . . . g.27389
cccaaagtgctgggattacaggcatgagccactgcgcccggccctcatgtagctttaaat c.*1140
. . . . . . g.27449
gtatgatctgacttctgctccccgatctctgtttctctggaggaagccaaggacaagagc c.*1200
. . . . . . g.27509
agttgctgtggctgggactctgccttttaggggagcccgtgtatctctttgggatcctga c.*1260
. . . . . . g.27569
aagggggcaggaaaggctggggtcccagtccaccctaatggtatctgagtgtcctagggc c.*1320
. . . . . . g.27629
ttcagttttcccacctgtccaatgggaccctttctgtcctcaccctacaaggggcacaaa c.*1380
. . . . . . g.27689
gggatgacaccaaacctggcaggaacttttcacgcaatcaagggaaggaaaggcattcct c.*1440
. . . . . . g.27749
ggcagagggaacagcatgccaagcgtgagaaggctcagagtaaggaggttaagagcccaa c.*1500
. . . . . . g.27809
gtattggagcctacagttttgccccttccatgcagtgtgacagtgggcaagttcctttcc c.*1560
. . . . . . g.27869
ctctctgggtctcagttctgtcccctgcaaaatggtcagagcttaccccttggctgtgca c.*1620
. . . . . . g.27929
gggtcaactttctgactggtgagagggattctcatgcaggttaagcttctgctgctcctc c.*1680
. . . . . . g.27989
ctcacctgcaaagcttttctgccacttttgcctccttggaaaactcttatccatctctca c.*1740
. . . . . . g.28049
aaactccagctaccacatccttgcagccttccctcatatacccccactactactgtagcc c.*1800
. . . . . . g.28109
ctgtccttccctccagccccactctggccctggggctggggaagtgtctgtgtccagctg c.*1860
. . . . . . g.28169
tctcccctgacctcagggttccttgggggctgggctgaggcctcagtacagagggggctc c.*1920
. . . . g.28210
tggaaatgtttgttgactgaataaaggaattcagtggaaaa c.*1961
(downstream sequence)
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