(used for variant description)
(last modified July 25, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_024747.5 in the HPS6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012029.1, covering HPS6 transcript NM_024747.5.
(upstream sequence)
. . . . g.5025
cgggagacggaagtcttggccctgctccgctcccccgagaatcgggcc c.-61
. . . . . . g.5085
tcgccctgctgggcggctggacctgggcaaagcctgggcgcgctcccgcgcagcggcgcc c.-1
. . . . . . g.5145
ATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCG c.60
M K R S G T L R L L S D L S A F G G A A p.20
. . . . . . g.5205
CGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGC c.120
R L R E L V A G D S A V R V R G S P D G p.40
. . . . . . g.5265
CGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCG c.180
R H L L L L R P P G A V A P Q L L V A S p.60
. . . . . . g.5325
CGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGAC c.240
R G P G A E L E R A W P A G Q P S P L D p.80
. . . . . . g.5385
GCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTG c.300
A F F L P W P A R P A L V L V W E S G L p.100
. . . . . . g.5445
GCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTG c.360
A E V W G A G V G P G W R P L Q S T E L p.120
. . . . . . g.5505
TGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGG c.420
C P G G G A R V V A V A A L R G R L V W p.140
. . . . . . g.5565
TGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGC c.480
C E E R Q A R A E G P S G S P A A A F S p.160
. . . . . . g.5625
CACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGC c.540
H C V C V R T L E P S G E A S T S L G R p.180
. . . . . . g.5685
ACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTC c.600
T H V L L H H C P A F G L L A S C R Q L p.200
. . . . . . g.5745
TTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGC c.660
F L V P T A T T W P G V A H V L L I W S p.220
. . . . . . g.5805
CCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGT c.720
P G K G K V M V A A P R L G L S Y S K S p.240
. . . . . . g.5865
CTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGG c.780
L N P G R G D T W D F R T L L R G L P G p.260
. . . . . . g.5925
TTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTG c.840
L L S P R E P L A V H T W A P T P Q G L p.280
. . . . . . g.5985
CTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCT c.900
L L L D F G G T V S L L Q S H G G T R A p.300
. . . . . . g.6045
GTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTT c.960
V G T L Q E A P V G P W G S A A L G T F p.320
. . . . . . g.6105
CAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGG c.1020
Q G T L A C V L G S T L E L L D M G S G p.340
. . . . . . g.6165
CAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCC c.1080
Q L L E R K V L S T D R V H L L E P P A p.360
. . . . . . g.6225
CCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCC c.1140
P G M E D E E E L E T R G N L R L L S A p.380
. . . . . . g.6285
TTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAG c.1200
L G L F C V G W E A P Q G V E L P S A K p.400
. . . . . . g.6345
GATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAG c.1260
D L V F E E A C G Y Y Q R R S L R G A Q p.420
. . . . . . g.6405
CTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCC c.1320
L T P E E L R H S S T F R A P Q A L A S p.440
. . . . . . g.6465
ATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGG c.1380
I L Q G H L P P S A L L T M L R T E L R p.460
. . . . . . g.6525
GATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCT c.1440
D Y R G L E Q L K A Q L V A G D D E E A p.480
. . . . . . g.6585
GGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGA c.1500
G W T E L A E Q E V A R L L R T E L I G p.500
. . . . . . g.6645
GACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCC c.1560
D Q L A Q L N T V F Q A L P T A A W G A p.520
. . . . . . g.6705
ACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCC c.1620
T L R A L Q L Q L D G N G K L R S Q A P p.540
. . . . . . g.6765
CCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGA c.1680
P D V W K K V L G G I T A G K E P P N G p.560
. . . . . . g.6825
ATACTGCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTG c.1740
I L P P F E L L C Q C L C Q L E P R W L p.580
. . . . . . g.6885
CCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCA c.1800
P P F V E L A Q Q Q G G P G W G A G G P p.600
. . . . . . g.6945
GGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAG c.1860
G L P L Y R R A L A V L G E E G T R P E p.620
. . . . . . g.7005
GCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTC c.1920
A L E L E L L L S S G R P K A V L Q A V p.640
. . . . . . g.7065
GGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGC c.1980
G Q L V Q K E Q W D R A L D A G L A L G p.660
. . . . . . g.7125
CCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAG c.2040
P S S P L L R S E I F K L L L A E F A Q p.680
. . . . . . g.7185
CACCGCCGGCTTGATGCTCACCTCCCCCTCCTTTGCCGCCTGTGCCCACCAGAACTGGCT c.2100
H R R L D A H L P L L C R L C P P E L A p.700
. . . . . . g.7245
CCAGCTGAGCTCCTGCTTCTACTGAGGACATACCTCCCAGATGAGGTGGGGCCCCCAACC c.2160
P A E L L L L L R T Y L P D E V G P P T p.720
. . . . . . g.7305
CCATTCCCTGAGCCTGGAGCAGAGCCCCCTCTCACTGTGGGCTTGCTCAAAGCCCTGCTG c.2220
P F P E P G A E P P L T V G L L K A L L p.740
. . . . . . g.7365
GAGCAGACTGGGGCTCAAGGATGGCTGTCGGGCCCAGTTCTAAGCCCATATGAGGACATC c.2280
E Q T G A Q G W L S G P V L S P Y E D I p.760
. . . . g.7413
CTATGGGACCCCAGCACTCCACCCCCGACTCCACCTCGGGACCTATGA c.2328
L W D P S T P P P T P P R D L X p.775
. . . . . . g.7473
ctacccttcaggcatcagaacactcagggcctggaggcttgcttgggactggaggcttgc c.*60
. . . . . . g.7533
ttggacagttcctctgtgtcactgacacaggaaatcatttctaggacacagtgatcaggg c.*120
. . . . . . g.7593
aagggtgcctgggacttggagggtcccatgtatggacctgtgtatgcaatactgttctgt c.*180
. . . . . g.7649
catctggagctatttttaagatgtgtgtgttaaatatatacatagtttaatatata c.*236
(downstream sequence)
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