(used for variant description)
(last modified October 24, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000521.3 in the HEXB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009770.2, covering HEXB transcript NM_000521.3.
(upstream sequence)
. . . . . g.50178
gcagtcatctgactcggtgactcacccgcggccgcgcttcctctgatccgggccggg c.-61
. . . . . . g.50238
cgggaagtcgggtcccgaggctccggctcggcagaccgggcggaaagcagccgagcggcc c.-1
. . . . . . g.50298
ATGGAGCTGTGCGGGCTGGGGCTGCCCCGGCCGCCCATGCTGCTGGCGCTGCTGTTGGCG c.60
M E L C G L G L P R P P M L L A L L L A p.20
. . . . . . g.50358
ACACTGCTGGCGGCGATGTTGGCGCTGCTGACTCAGGTGGCGCTGGTGGTGCAGGTGGCG c.120
T L L A A M L A L L T Q V A L V V Q V A p.40
. . . . . . g.50418
GAGGCGGCTCGGGCCCCGAGCGTCTCGGCCAAGCCGGGGCCGGCGCTGTGGCCCCTGCCG c.180
E A A R A P S V S A K P G P A L W P L P p.60
. . . . . . g.50478
CTCTCGGTGAAGATGACCCCGAACCTGCTGCATCTCGCCCCGGAGAACTTCTACATCAGC c.240
L S V K M T P N L L H L A P E N F Y I S p.80
. . . . . | 02 g.54306
CACAGCCCCAATTCCACGGCGGGCCCCTCCTGCACCCTGCTGGAGGAAGCGTTTCGACG | A c.300
H S P N S T A G P S C T L L E E A F R R | p.100
. . . . . . g.54366
TATCATGGCTATATTTTTGGTTTCTACAAGTGGCATCATGAACCTGCTGAATTCCAGGCT c.360
Y H G Y I F G F Y K W H H E P A E F Q A p.120
. . . . . . g.54426
AAAACCCAGGTTCAGCAACTTCTTGTCTCAATCACCCTTCAGTCAGAGTGTGATGCTTTC c.420
K T Q V Q Q L L V S I T L Q S E C D A F p.140
. . | 03 . . . . g.58651
CCCAACATATCTTCAGATGAGTCTT | ATACTTTACTTGTGAAAGAACCAGTGGCTGTCCTT c.480
P N I S S D E S Y | T L L V K E P V A V L p.160
. . . | 04 . . . g.61699
AAGGCCAACAGAGTTTGGGGAGCATTACGAG | GTTTAGAGACCTTTAGCCAGTTAGTTTAT c.540
K A N R V W G A L R G | L E T F S Q L V Y p.180
. | 05 . . . . g.62015
CAAGATTCTTATGGAACT | TTCACCATCAATGAATCCACCATTATTGATTCTCCAAGGTTT c.600
Q D S Y G T | F T I N E S T I I D S P R F p.200
. . . . . . g.62075
TCTCACAGAGGAATTTTGATTGATACATCCAGACATTATCTGCCAGTTAAGATTATTCTT c.660
S H R G I L I D T S R H Y L P V K I I L p.220
| 06 . . . . . g.70247
AAAACTCTG | GATGCCATGGCTTTTAATAAGTTTAATGTTCTTCACTGGCACATAGTTGAT c.720
K T L | D A M A F N K F N V L H W H I V D p.240
. . . . . | 07 . g.78492
GACCAGTCTTTCCCATATCAGAGCATCACTTTTCCTGAGTTAAGCAATAAA | GGAAGCTAT c.780
D Q S F P Y Q S I T F P E L S N K | G S Y p.260
. . . . . . g.78552
TCTTTGTCTCATGTTTATACACCAAATGATGTCCGTATGGTGATTGAATATGCCAGATTA c.840
S L S H V Y T P N D V R M V I E Y A R L p.280
. . . . . . g.78612
CGAGGAATTCGAGTCCTGCCAGAATTTGATACCCCTGGGCATACACTATCTTGGGGAAAA c.900
R G I R V L P E F D T P G H T L S W G K p.300
| 08 . . . . . . g.80546
G | GTCAGAAAGACCTCCTGACTCCATGTTACAGTAGACAAAACAAGTTGGACTCTTTTGGA c.960
G | Q K D L L T P C Y S R Q N K L D S F G p.320
. . . . . . g.80606
CCTATAAACCCTACTCTGAATACAACATACAGCTTCCTTACTACATTTTTCAAAGAAATT c.1020
P I N P T L N T T Y S F L T T F F K E I p.340
. . . . . . g.80666
AGTGAGGTGTTTCCAGATCAATTCATTCATTTGGGAGGAGATGAAGTGGAATTTAAATGT c.1080
S E V F P D Q F I H L G G D E V E F K C p.360
| 09 . . . . . . g.81622
TG | GGAATCAAATCCAAAAATTCAAGATTTCATGAGGCAAAAAGGCTTTGGCACAGATTTT c.1140
W | E S N P K I Q D F M R Q K G F G T D F p.380
. . | 10 . . . g.83299
AAGAAACTAGAATCTTTCTACATTCAAAA | GGTTTTGGATATTATTGCAACCATAAACAAG c.1200
K K L E S F Y I Q K | V L D I I A T I N K p.400
. . . . | 11 . . g.83792
GGATCCATTGTCTGGCAGGAGGTTTTTGATGATAAAGCAAAG | CTTGCGCCGGGCACAATA c.1260
G S I V W Q E V F D D K A K | L A P G T I p.420
. . . . . . g.83852
GTTGAAGTATGGAAAGACAGCGCATATCCTGAGGAACTCAGTAGAGTCACAGCATCTGGC c.1320
V E V W K D S A Y P E E L S R V T A S G p.440
. . . . . . g.83912
TTCCCTGTAATCCTTTCTGCTCCTTGGTACTTAGATTTGATTAGCTATGGACAAGATTGG c.1380
F P V I L S A P W Y L D L I S Y G Q D W p.460
. . . | 12. . . g.85428
AGGAAATACTATAAAGTGGAACCTCTTGATTTTGGCG | GTACTCAGAAACAGAAACAACTT c.1440
R K Y Y K V E P L D F G G | T Q K Q K Q L p.480
. . . . . . g.85488
TTCATTGGTGGAGAAGCTTGTCTATGGGGAGAATATGTGGATGCAACTAACCTCACTCCA c.1500
F I G G E A C L W G E Y V D A T N L T P p.500
| 13 . . . . . g.85672
AGATTATG | GCCTCGGGCAAGTGCTGTTGGTGAGAGACTCTGGAGTTCCAAAGATGTCAGA c.1560
R L W | P R A S A V G E R L W S S K D V R p.520
. . . . . | 14 . g.86102
GATATGGATGACGCCTATGACAGACTGACAAGGCACCGCTGCAGGATGGTCGA | ACGTGGA c.1620
D M D D A Y D R L T R H R C R M V E | R G p.540
. . . . . g.86153
ATAGCTGCACAACCTCTTTATGCTGGATATTGTAACCATGAGAACATGTAA c.1671
I A A Q P L Y A G Y C N H E N M X p.556
. . . . . . g.86213
aaaatggaggggaaaaaggccacagcaatctgtactacaatcaactttattttgaaatca c.*60
. . . . . g.86266
tgtaaaataagatattagactgttttttgaataaaatatttttattgattgaa c.*113
(downstream sequence)
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