(used for variant description)
(last modified March 10, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_012448.3 in the STAT5B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007271.1, covering STAT5B transcript NM_012448.3.
(upstream sequence)
. . . . g.5049
ggcgggaggagagtcggcggccggagccgtcaccccgggcggggaccca c.-121
. . . . . . g.5109
gcgcaggcaactccgcgcggcggcccggccgagggagggagcgagcgggcgggcgggcaa c.-61
. . . . . | 02 g.49279
gccagacagctgggccggagcagccgcgggcgcccgaggggccgagcgag | attgtaaacc c.-1
. . . . . . g.49339
ATGGCTGTGTGGATACAAGCTCAGCAGCTCCAAGGAGAAGCCCTTCATCAGATGCAAGCG c.60
M A V W I Q A Q Q L Q G E A L H Q M Q A p.20
. . . . . . g.49399
TTATATGGCCAGCATTTTCCCATTGAGGTGCGGCATTATTTATCCCAGTGGATTGAAAGC c.120
L Y G Q H F P I E V R H Y L S Q W I E S p.40
| 03 . . . . . g.53773
CAAGCATG | GGACTCAGTAGATCTTGATAATCCACAGGAGAACATTAAGGCCACCCAGCTC c.180
Q A W | D S V D L D N P Q E N I K A T Q L p.60
. . . . . . g.53833
CTGGAGGGCCTGGTGCAGGAGCTGCAGAAGAAGGCAGAGCACCAGGTGGGGGAAGATGGG c.240
L E G L V Q E L Q K K A E H Q V G E D G p.80
. . . . | 04 . . g.56553
TTTTTACTGAAGATCAAGCTGGGGCACTATGCCACACAGCTCCAG | AACACGTATGACCGC c.300
F L L K I K L G H Y A T Q L Q | N T Y D R p.100
. . . . . . g.56613
TGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTC c.360
C P M E L V R C I R H I L Y N E Q R L V p.120
. | 05 . . . . . g.57895
CGAGAAGCCAACAAT | GGTAGCTCTCCAGCTGGAAGCCTTGCTGATGCCATGTCCCAGAAA c.420
R E A N N | G S S P A G S L A D A M S Q K p.140
. . . . . . g.57955
CACCTCCAGATCAACCAGACGTTTGAGGAGCTGCGACTGGTCACGCAGGACACAGAGAAT c.480
H L Q I N Q T F E E L R L V T Q D T E N p.160
. . . . . . g.58015
GAGTTAAAAAAGCTGCAGCAGACTCAGGAGTACTTCATCATCCAGTACCAGGAGAGCCTG c.540
E L K K L Q Q T Q E Y F I I Q Y Q E S L p.180
. | 06 . . . . . g.61614
AGGATCCAAG | CTCAGTTTGGCCCGCTGGCCCAGCTGAGCCCCCAGGAGCGTCTGAGCCGG c.600
R I Q A | Q F G P L A Q L S P Q E R L S R p.200
. . . . . . g.61674
GAGACGGCCCTCCAGCAGAAGCAGGTGTCTCTGGAGGCCTGGTTGCAGCGTGAGGCACAG c.660
E T A L Q Q K Q V S L E A W L Q R E A Q p.220
. . | 07 . . . . g.61982
ACACTGCAGCAGTACCGCGTG | GAGCTGGCCGAGAAGCACCAGAAGACCCTGCAGCTGCTG c.720
T L Q Q Y R V | E L A E K H Q K T L Q L L p.240
. . . . . . g.62042
CGGAAGCAGCAGACCATCATCCTGGATGACGAGCTGATCCAGTGGAAGCGGCGGCAGCAG c.780
R K Q Q T I I L D D E L I Q W K R R Q Q p.260
. . . . . | 08 . g.62535
CTGGCCGGGAACGGCGGGCCCCCCGAGGGCAGCCTGGACGTGCTACAGTCCTG | GTGTGAG c.840
L A G N G G P P E G S L D V L Q S W | C E p.280
. . . . . . g.62595
AAGTTGGCCGAGATCATCTGGCAGAACCGGCAGCAGATCCGCAGGGCTGAGCACCTCTGC c.900
K L A E I I W Q N R Q Q I R R A E H L C p.300
. . . . . . g.62655
CAGCAGCTGCCCATCCCCGGCCCAGTGGAGGAGATGCTGGCCGAGGTCAACGCCACCATC c.960
Q Q L P I P G P V E E M L A E V N A T I p.320
. . | 09 . . . g.63107
ACGGACATTATCTCAGCCCTGGTGACCAG | CACGTTCATCATTGAGAAGCAGCCTCCTCAG c.1020
T D I I S A L V T S | T F I I E K Q P P Q p.340
. . . . . . g.63167
GTCCTGAAGACCCAGACCAAGTTTGCAGCCACTGTGCGCCTGCTGGTGGGCGGGAAGCTG c.1080
V L K T Q T K F A A T V R L L V G G K L p.360
. . . . . . g.63227
AACGTGCACATGAACCCCCCCCAGGTGAAGGCCACCATCATCAGTGAGCAGCAGGCCAAG c.1140
N V H M N P P Q V K A T I I S E Q Q A K p.380
. . | 10 . . . g.63973
TCTCTGCTCAAGAACGAGAACACCCGCAA | TGATTACAGTGGCGAGATCTTGAACAACTGC c.1200
S L L K N E N T R N | D Y S G E I L N N C p.400
. . . . . | 11. g.64127
TGCGTCATGGAGTACCACCAAGCCACAGGCACCCTTAGTGCCCACTTCAGGAATATG | TCC c.1260
C V M E Y H Q A T G T L S A H F R N M | S p.420
. . . . . . g.64187
CTGAAACGAATTAAGAGGTCAGACCGTCGTGGGGCAGAGTCGGTGACAGAAGAAAAATTT c.1320
L K R I K R S D R R G A E S V T E E K F p.440
. . . . . . g.64247
ACAATCCTGTTTGAATCCCAGTTCAGTGTTGGTGGAAATGAGCTGGTTTTTCAAGTCAAG c.1380
T I L F E S Q F S V G G N E L V F Q V K p.460
| 12 . . . . . . g.65360
| ACCCTGTCCCTGCCAGTGGTGGTGATCGTTCATGGCAGCCAGGACAACAATGCGACGGCC c.1440
| T L S L P V V V I V H G S Q D N N A T A p.480
. . . | 13 . . . g.69243
ACTGTTCTCTGGGACAATGCTTTTGCAGAGCCT | GGCAGGGTGCCATTTGCCGTGCCTGAC c.1500
T V L W D N A F A E P | G R V P F A V P D p.500
. . . . . . g.69303
AAAGTGCTGTGGCCACAGCTGTGTGAGGCGCTCAACATGAAATTCAAGGCCGAAGTGCAG c.1560
K V L W P Q L C E A L N M K F K A E V Q p.520
. . . . . . g.69363
AGCAACCGGGGCCTGACCAAGGAGAACCTCGTGTTCCTGGCGCAGAAACTGTTCAACAAC c.1620
S N R G L T K E N L V F L A Q K L F N N p.540
. . . . . . g.69423
AGCAGCAGCCACCTGGAGGACTACAGTGGCCTGTCTGTGTCCTGGTCCCAGTTCAACAGG c.1680
S S S H L E D Y S G L S V S W S Q F N R p.560
| 14 . . . . . . g.70969
| GAGAATTTACCAGGACGGAATTACACTTTCTGGCAATGGTTTGACGGTGTGATGGAAGTG c.1740
| E N L P G R N Y T F W Q W F D G V M E V p.580
. . . | 15 . . . g.71130
TTAAAAAAACATCTCAAGCCTCATTGGAATGATGG | GGCCATTTTGGGGTTTGTAAACAAG c.1800
L K K H L K P H W N D G | A I L G F V N K p.600
. . . . . . g.71190
CAACAGGCCCATGACCTACTCATTAACAAGCCAGATGGGACCTTCCTCCTGAGATTCAGT c.1860
Q Q A H D L L I N K P D G T F L L R F S p.620
. . . . | 16 . . g.73692
GACTCAGAAATTGGCGGCATCACCATTGCTTGGAAGTTTGATTCTC | AGGAAAGAATGTTT c.1920
D S E I G G I T I A W K F D S Q | E R M F p.640
. . . . . . g.73752
TGGAATCTGATGCCTTTTACCACCAGAGACTTCTCCATTCGGTCCCTAGCCGACCGCTTG c.1980
W N L M P F T T R D F S I R S L A D R L p.660
. . . . . . g.73812
GGAGACTTGAATTACCTTATCTACGTGTTTCCTGATCGGCCAAAAGATGAAGTATACTCC c.2040
G D L N Y L I Y V F P D R P K D E V Y S p.680
. . . | 17. . . g.78621
AAATACTACACACCAGTTCCCTGCGAGTCTGCTACTG | CTAAAGCTGTTGATGGATACGTG c.2100
K Y Y T P V P C E S A T A | K A V D G Y V p.700
. . | 18 . . . g.78990
AAGCCACAGATCAAGCAAGTGGTCCCTGA | GTTTGTGAACGCATCTGCAGATGCCGGGGGC c.2160
K P Q I K Q V V P E | F V N A S A D A G G p.720
. . . . . . g.79050
GGCAGCGCCACGTACATGGACCAGGCCCCCTCCCCAGCTGTGTGTCCCCAGGCTCACTAT c.2220
G S A T Y M D Q A P S P A V C P Q A H Y p.740
. | 19. . . . . g.79585
AACATGTACCCACAGAA | CCCTGACTCAGTCCTTGACACCGATGGGGACTTCGATCTGGAG c.2280
N M Y P Q N | P D S V L D T D G D F D L E p.760
. . . . . . g.79645
GACACAATGGACGTAGCGCGGCGTGTGGAGGAGCTCCTGGGCCGGCCAATGGACAGTCAG c.2340
D T M D V A R R V E E L L G R P M D S Q p.780
. . g.79669
TGGATCCCGCACGCACAATCGTGA c.2364
W I P H A Q S X p.787
. . . . . . g.79729
ccccgcgacctctccatcttcagcttcttcatcttcaccagaggaatcactcttgtggat c.*60
. . . . . . g.79789
gttttaattccatgaatcgcttctcttttgaaacaatactcataatgtgaagtgttaata c.*120
. . . . . . g.79849
ctagttgtgaccttagtgtttctgtgcatggtggcaccagcgaagggagtgcgagtatgt c.*180
. . . . . . g.79909
gtttgtgtgtgtgtgtgtgtgtgtgtgtgtgtgcgtgtttgcacgttatggtgtttctcc c.*240
. . . . . . g.79969
ctctcactgtctgagagtttagttgtagcagaggggccacagacagaagctgtggtggtt c.*300
. . . . . . g.80029
tttactttgtgcaaaaaggcagtgagtttcgtgaagcctggaagttggccatgtgtctta c.*360
. . . . . . g.80089
agagtggctggactttgacatgtggctgtttgaataagagaaggacaaagggaggagaaa c.*420
. . . . . . g.80149
gcacatgtgctccagtgagtcttcgtcactctgtctgccaagcaattgatatataaccgt c.*480
. . . . . . g.80209
gattgtctctgcttttcttctgaaatgtagataactgctttttgacaaagagagccttcc c.*540
. . . . . . g.80269
ctctcccccacccctgtgttcttgggtaggaatgggaaaaggggcaacctacaaagattg c.*600
. . . . . . g.80329
ttggggcaagggaagtcacaagctttcggatgggcggtggcttttcacaaaacatttagc c.*660
. . . . . . g.80389
tcatcttattctctctttgtcctctctcccctcctgcccgcccgcaccctggaattgcca c.*720
. . . . . . g.80449
ctcagttcctctgggtgtgcacatatgtttggagaaatagaggagagaaaagagggccac c.*780
. . . . . . g.80509
gtaactgagagcttacagtgccaatgccgtttgtgttctggccagagtggagtgcgcagc c.*840
. . . . . . g.80569
cctgactcccaggcgctgagattgttgcctggttacccaggaagctgctgttccggctgc c.*900
. . . . . . g.80629
ccagcctttctctgagccagcggatgcacagtccgtggccttcttcaggcttattgatga c.*960
. . . . . . g.80689
tgctttttgcaaatgttgaatcatggttctgtttctaagttggatcttttttgttttctc c.*1020
. . . . . . g.80749
cttgccaccctaatttgacatcaaaattctctcttgtgcattgggccctgggtcattcaa c.*1080
. . . . . . g.80809
acccaggtcacctcattccccttctctgttcacacctaatgtcttgaagagtaggtagca c.*1140
. . . . . . g.80869
gcagtgtgggctgaacctaggccagcttgcttagcgggtcaccctgctgtgaagtcctgg c.*1200
. . . . . . g.80929
caggtgttggtaatgtgtggaaatgcagtcagcaagtttgctggggagtttgataaaagt c.*1260
. . . . . . g.80989
ataaaacaaaacaaaaaaagcctcggtataattttgttccacgacttcttctgtagcttt c.*1320
. . . . . . g.81049
acaccagaaggaaggaatgggctacagcaggtagtggaggaagaggggggtgagcaggtg c.*1380
. . . . . . g.81109
tattaaaatagcttacgggtaaggcctaaaaggtcacccctcggccccctctccaaaaga c.*1440
. . . . . . g.81169
agggcatgggcacccccaggagaggatggccccaaaaaccttatttttatacatgagagt c.*1500
. . . . . . g.81229
aaataaacatattttttttacaaaaataacttctgaatttatcagtgttttgccgttaaa c.*1560
. . . . . . g.81289
aatattcctctatagtaaattatttattggaagatgacttttttaaagctgccgtttgcc c.*1620
. . . . . . g.81349
ttggcttggtttcatacactgatttatttttctatgccaggcagtagagtctctctgcct c.*1680
. . . . . . g.81409
ctgaggagcaggctacccgcatcccactcagcccctccctacccctcaagatttgatgaa c.*1740
. . . . . . g.81469
aattccaaccatgaggatgggtgcatcggggaagggtgagaaggagagcctgcctgctca c.*1800
. . . . . . g.81529
gggatccaggctcgtagagtcactccctgcccgtctcccagagatgcttcaccagcacct c.*1860
. . . . . . g.81589
gcctctgagacctcgctctctgttccagcaaccctggttggggggtcagacttgatacac c.*1920
. . . . . . g.81649
tttcaggttgggagtggacccaccccagggcctgctgaggacagagcagccaggccgtcc c.*1980
. . . . . . g.81709
tggctcactttgcagttggcactgggttggggaggaagagagctgatgagtgtggcttcc c.*2040
. . . . . . g.81769
ctgagctggggtttccctgcttgtccagttgtgagctgtcctcggtgttaccgaggctgt c.*2100
. . . . . . g.81829
gcctagagagtggagatttttgatgaaaggtgtgctcgctctctgcgttctatcttctct c.*2160
. . . . . . g.81889
ctcctccttgttcctgcaaaccacaagataaaggtagtggtgtgtctcgaccccatcagc c.*2220
. . . . . . g.81949
ctctcacccactcccagacacacacaagtcctcaaaagtttcagctccgtgtgtgagatg c.*2280
. . . . . . g.82009
tgcaggttttttctagggggtagggggagactaaaatcgaatataacttaaaatgaaagt c.*2340
. . . . . . g.82069
atactttttataatttttctttttaaaacttggtgaaattatttcagatacatattttag c.*2400
. . . . . . g.82129
tgtcaaggcagattagttatttagccaccaaaaaaaagtattgtgtacaatttggggcct c.*2460
. . . . . . g.82189
caaatttgactctgcctcaaaaaaaagaaatatatcctatgcagagttacagtcacaaag c.*2520
. . . . g.82230
ttgtgtattttatgttacaataaagccttcctctgaaggga c.*2561
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 18
©2004-2017 Leiden University Medical Center