(used for variant description)
(last modified February 1, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_000157.3 in the GBA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009783.1, covering GBA transcript NM_000157.3.
(upstream sequence)
. . . . g.8630
atcacatgacccatccacatcgggaagccggaattacttgcagggc c.-121
. . . . . . g.8690
taacctagtgcctatagctaaggcaggtacctgcatccttgtttttgtttagtggatcct c.-61
. . . . . . g.8750
ctatccttcagagactctggaacccctgtggtcttctcttcatctaatgaccctgagggg c.-1
. . | 02. . . . g.9178
ATGGAGTTTTCAAGTCCTTCCAGAGAG | GAATGTCCCAAGCCTTTGAGTAGGGTAAGCATC c.60
M E F S S P S R E | E C P K P L S R V S I p.20
. . . . . | 03 . g.9790
ATGGCTGGCAGCCTCACAGGATTGCTTCTACTTCAGGCAGTGTCGTGGGCATCAG | GTGCC c.120
M A G S L T G L L L L Q A V S W A S G | A p.40
. . . . . . g.9850
CGCCCCTGCATCCCTAAAAGCTTCGGCTACAGCTCGGTGGTGTGTGTCTGCAATGCCACA c.180
R P C I P K S F G Y S S V V C V C N A T p.60
. . . . . . g.9910
TACTGTGACTCCTTTGACCCCCCGACCTTTCCTGCCCTTGGTACCTTCAGCCGCTATGAG c.240
Y C D S F D P P T F P A L G T F S R Y E p.80
. . . . . . g.9970
AGTACACGCAGTGGGCGACGGATGGAGCTGAGTATGGGGCCCATCCAGGCTAATCACACG c.300
S T R S G R R M E L S M G P I Q A N H T p.100
| 04. . . . . . g.10153
GGCACAG | GCCTGCTACTGACCCTGCAGCCAGAACAGAAGTTCCAGAAAGTGAAGGGATTT c.360
G T G | L L L T L Q P E Q K F Q K V K G F p.120
. . . . . . g.10213
GGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCTGCCCAA c.420
G G A M T D A A A L N I L A L S P P A Q p.140
. . . | 05 . . . g.11238
AATTTGCTACTTAAATCGTACTTCTCTGAAGAAG | GAATCGGATATAACATCATCCGGGTA c.480
N L L L K S Y F S E E G | I G Y N I I R V p.160
. . . . . . g.11298
CCCATGGCCAGCTGTGACTTCTCCATCCGCACCTACACCTATGCAGACACCCCTGATGAT c.540
P M A S C D F S I R T Y T Y A D T P D D p.180
. . . . | 06 . g.11568
TTCCAGTTGCACAACTTCAGCCTCCCAGAGGAAGATACCAAGCTCAAG | ATACCCCTGATT c.600
F Q L H N F S L P E E D T K L K | I P L I p.200
. . . . . . g.11628
CACCGAGCCCTGCAGTTGGCCCAGCGTCCCGTTTCACTCCTTGCCAGCCCCTGGACATCA c.660
H R A L Q L A Q R P V S L L A S P W T S p.220
. . . . . . g.11688
CCCACTTGGCTCAAGACCAATGGAGCGGTGAATGGGAAGGGGTCACTCAAGGGACAGCCC c.720
P T W L K T N G A V N G K G S L K G Q P p.240
. . . . | 07 . . g.12303
GGAGACATCTACCACCAGACCTGGGCCAGATACTTTGTGAA | GTTCCTGGATGCCTATGCT c.780
G D I Y H Q T W A R Y F V K | F L D A Y A p.260
. . . . . . g.12363
GAGCACAAGTTACAGTTCTGGGCAGTGACAGCTGAAAATGAGCCTTCTGCTGGGCTGTTG c.840
E H K L Q F W A V T A E N E P S A G L L p.280
. . . . . . g.12423
AGTGGATACCCCTTCCAGTGCCTGGGCTTCACCCCTGAACATCAGCGAGACTTCATTGCC c.900
S G Y P F Q C L G F T P E H Q R D F I A p.300
. . . . . . g.12483
CGTGACCTAGGTCCTACCCTCGCCAACAGTACTCACCACAATGTCCGCCTACTCATGCTG c.960
R D L G P T L A N S T H H N V R L L M L p.320
. . . | 08 . . g.13414
GATGACCAACGCTTGCTGCTGCCCCACTGGGCAAAGGTG | GTACTGACAGACCCAGAAGCA c.1020
D D Q R L L L P H W A K V | V L T D P E A p.340
. . . . . . g.13474
GCTAAATATGTTCATGGCATTGCTGTACATTGGTACCTGGACTTTCTGGCTCCAGCCAAA c.1080
A K Y V H G I A V H W Y L D F L A P A K p.360
. . . . . . g.13534
GCCACCCTAGGGGAGACACACCGCCTGTTCCCCAACACCATGCTCTTTGCCTCAGAGGCC c.1140
A T L G E T H R L F P N T M L F A S E A p.380
. . . . . . g.13594
TGTGTGGGCTCCAAGTTCTGGGAGCAGAGTGTGCGGCTAGGCTCCTGGGATCGAGGGATG c.1200
C V G S K F W E Q S V R L G S W D R G M p.400
. . | 09 . . . . g.14054
CAGTACAGCCACAGCATCATCACG | AACCTCCTGTACCATGTGGTCGGCTGGACCGACTGG c.1260
Q Y S H S I I T | N L L Y H V V G W T D W p.420
. . . . . . g.14114
AACCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCCC c.1320
N L A L N P E G G P N W V R N F V D S P p.440
. . . . . . g.14174
ATCATTGTAGACATCACCAAGGACACGTTTTACAAACAGCCCATGTTCTACCACCTTGGC c.1380
I I V D I T K D T F Y K Q P M F Y H L G p.460
| 10 . . . . . g.14603
CACTTCAG | CAAGTTCATTCCTGAGGGCTCCCAGAGAGTGGGGCTGGTTGCCAGTCAGAAG c.1440
H F S | K F I P E G S Q R V G L V A S Q K p.480
. . . . . . g.14663
AACGACCTGGACGCAGTGGCACTGATGCATCCCGATGGCTCTGCTGTTGTGGTCGTGCTA c.1500
N D L D A V A L M H P D G S A V V V V L p.500
| 11 . . . . . . g.14817
AACCG | CTCCTCTAAGGATGTGCCTCTTACCATCAAGGATCCTGCTGTGGGCTTCCTGGAG c.1560
N R | S S K D V P L T I K D P A V G F L E p.520
. . . . . g.14868
ACAATCTCACCTGGCTACTCCATTCACACCTACCTGTGGCGTCGCCAGTGA c.1611
T I S P G Y S I H T Y L W R R Q X p.536
. . . . . . g.14928
tggagcagatactcaaggaggcactgggctcagcctgggcattaaagggacagagtcagc c.*60
. . . . . . g.14988
tcacacgctgtctgtgactaaagagggcacagcagggccagtgtgagcttacagcgacgt c.*120
. . . . . . g.15048
aagcccaggggcaatggtttgggtgactcactttcccctctaggtggtgccaggggctgg c.*180
. . . . . . g.15108
aggcccctagaaaaagatcagtaagccccagtgtccccccagcccccatgcttatgtgaa c.*240
. . . . . . g.15168
catgcgctgtgtgctgcttgctttggaaactgggcctgggtccaggcctagggtgagctc c.*300
. . . . . . g.15228
actgtccgtacaaacacaagatcagggctgagggtaaggaaaagaagagactaggaaagc c.*360
. . . . . . g.15288
tgggcccaaaactggagactgtttgtctttcctggagatgcagaactgggcccgtggagc c.*420
. . . . . . g.15348
agcagtgtcagcatcagggcggaagccttaaagcagcagcgggtgtgcccaggcacccag c.*480
. . . . . . g.15408
atgattcctatggcaccagccaggaaaaatggcagctcttaaaggagaaaatgtttgagc c.*540
g.15415
ccagtca c.*547
(downstream sequence)
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