(used for variant description)
(last modified March 17, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_000404.2 in the GLB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering GLB1 transcript NM_000404.2.
(upstream sequence)
. . . . . g.5057
aggcgcgagggctggctgctgggccgacgaggggcggtgccaggccgtgggtcctta c.-61
. . . . . . g.5117
gtcaagtgacgcgaagcggccggcctgggcgccgactgcagagccgggaggctggtggtc c.-1
. . . . . . g.5177
ATGCCGGGGTTCCTGGTTCGCATCCTCCCTCTGTTGCTGGTTCTGCTGCTTCTGGGCCCT c.60
M P G F L V R I L P L L L V L L L L G P p.20
. | 02 . . . . . g.29534
ACGCGCGGCTTGCGC | AATGCCACCCAGAGGATGTTTGAAATTGACTATAGCCGGGACTCC c.120
T R G L R | N A T Q R M F E I D Y S R D S p.40
. . . . . . g.29594
TTCCTCAAGGATGGCCAGCCATTTCGCTACATCTCAGGAAGCATTCACTACTCCCGTGTG c.180
F L K D G Q P F R Y I S G S I H Y S R V p.60
. . . . . . g.29654
CCCCGCTTCTACTGGAAGGACCGGCTGCTGAAGATGAAGATGGCTGGGCTGAACGCCATC c.240
P R F Y W K D R L L K M K M A G L N A I p.80
| 03 . . . . . . g.33287
CAGAC | GTATGTGCCCTGGAACTTTCATGAGCCCTGGCCAGGACAGTACCAGTTTTCTGAG c.300
Q T | Y V P W N F H E P W P G Q Y Q F S E p.100
. . . . . . g.33347
GACCATGATGTGGAATATTTTCTTCGGCTGGCTCATGAGCTGGGACTGCTGGTTATCCTG c.360
D H D V E Y F L R L A H E L G L L V I L p.120
. . . | 04 . . . g.33936
AGGCCCGGGCCCTACATCTGTGCAGAGTGGGAAATG | GGAGGATTACCTGCTTGGCTGCTA c.420
R P G P Y I C A E W E M | G G L P A W L L p.140
. . . | 05. . . g.36668
GAGAAAGAGTCTATTCTTCTCCGCTCCTCCGACCCAG | ATTACCTGGCAGCTGTGGACAAG c.480
E K E S I L L R S S D P D | Y L A A V D K p.160
. . . . . . g.36728
TGGTTGGGAGTCCTTCTGCCCAAGATGAAGCCTCTCCTCTATCAGAATGGAGGGCCAGTT c.540
W L G V L L P K M K P L L Y Q N G G P V p.180
. | 06 . . . . . g.43981
ATAACAGTGCAG | GTTGAAAATGAATATGGCAGCTACTTTGCCTGTGATTTTGACTACCTG c.600
I T V Q | V E N E Y G S Y F A C D F D Y L p.200
. . . . . . g.44041
CGCTTCCTGCAGAAGCGCTTTCGCCACCATCTGGGGGATGATGTGGTTCTGTTTACCACT c.660
R F L Q K R F R H H L G D D V V L F T T p.220
. . . . . . g.44101
GATGGAGCACATAAAACATTCCTGAAATGTGGGGCCCTGCAGGGCCTCTACACCACGGTG c.720
D G A H K T F L K C G A L Q G L Y T T V p.240
. | 07 . . . . . g.48700
GACTTTGGAACAG | GCAGCAACATCACAGATGCTTTCCTAAGCCAGAGGAAGTGTGAGCCC c.780
D F G T G | S N I T D A F L S Q R K C E P p.260
. | 08 . . . . . g.50246
AAAGGACCCTTG | ATCAATTCTGAATTCTATACTGGCTGGCTAGATCACTGGGGCCAACCT c.840
K G P L | I N S E F Y T G W L D H W G Q P p.280
. . . . . . g.50306
CACTCCACAATCAAGACCGAAGCAGTGGCTTCCTCCCTCTATGATATACTTGCCCGTGGG c.900
H S T I K T E A V A S S L Y D I L A R G p.300
. | 09 . . . . | 10 . g.55975
GCGAGTGTGAACTT | GTACATGTTTATAGGTGGGACCAATTTTGCCTATTGGAATG | GGGCC c.960
A S V N L | Y M F I G G T N F A Y W N G | A p.320
. . . . . . g.56035
AACTCACCCTATGCAGCACAGCCCACCAGCTACGACTATGATGCCCCACTGAGTGAGGCT c.1020
N S P Y A A Q P T S Y D Y D A P L S E A p.340
. . . . | 11 . g.77889
GGGGACCTCACTGAGAAGTATTTTGCTCTGCGAAACATCATCCAGAAG | TTTGAAAAAGTA c.1080
G D L T E K Y F A L R N I I Q K | F E K V p.360
. . . . . . g.77949
CCAGAAGGTCCTATCCCTCCATCTACACCAAAGTTTGCATATGGAAAGGTCACTTTGGAA c.1140
P E G P I P P S T P K F A Y G K V T L E p.380
| 12 . . . . . . g.80604
AAG | TTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGC c.1200
K | L K T V G A A L D I L C P S G P I K S p.400
. . . | 13 . . . g.83668
CTTTATCCCTTGACATTTATCCAGGTGAAACAG | CATTATGGGTTTGTGCTGTACCGGACA c.1260
L Y P L T F I Q V K Q | H Y G F V L Y R T p.420
. . . . . . g.83728
ACACTTCCTCAAGATTGCAGCAACCCAGCACCTCTCTCTTCACCCCTCAATGGAGTCCAC c.1320
T L P Q D C S N P A P L S S P L N G V H p.440
. . | 14. . . . g.85395
GATCGAGCATATGTTGCTGTGGATGGG | ATCCCCCAGGGAGTCCTTGAGCGAAACAATGTG c.1380
D R A Y V A V D G | I P Q G V L E R N N V p.460
. . . . . . g.85455
ATCACTCTGAACATAACAGGGAAAGCTGGAGCCACTCTGGACCTTCTGGTAGAGAACATG c.1440
I T L N I T G K A G A T L D L L V E N M p.480
. . . | 15 . . g.87913
GGACGTGTGAACTATGGTGCATATATCAACGATTTTAAG | GGTTTGGTTTCTAACCTGACT c.1500
G R V N Y G A Y I N D F K | G L V S N L T p.500
. . . . . . g.87973
CTCAGTTCCAATATCCTCACGGACTGGACGATCTTTCCACTGGACACTGAGGATGCAGTG c.1560
L S S N I L T D W T I F P L D T E D A V p.520
. . . . . . g.88033
TGCAGCCACCTGGGGGGCTGGGGACACCGTGACAGTGGCCACCATGATGAAGCCTGGGCC c.1620
C S H L G G W G H R D S G H H D E A W A p.540
. . . . . . g.88093
CACAACTCATCCAACTACACGCTCCCGGCCTTTTATATGGGGAACTTCTCCATTCCCAGT c.1680
H N S S N Y T L P A F Y M G N F S I P S p.560
. . . . . | 16 . g.104864
GGGATCCCAGACTTGCCCCAGGACACCTTTATCCAGTTTCCTGGATGGACCAAG | GGCCAG c.1740
G I P D L P Q D T F I Q F P G W T K | G Q p.580
. . . . . . g.104924
GTCTGGATTAATGGCTTTAACCTTGGCCGCTATTGGCCAGCCCGGGGCCCTCAGTTGACC c.1800
V W I N G F N L G R Y W P A R G P Q L T p.600
. . . . . . g.104984
TTGTTTGTGCCCCAGCACATCCTGATGACCTCGGCCCCAAACACCATCACCGTGCTGGAA c.1860
L F V P Q H I L M T S A P N T I T V L E p.620
. . . . . . g.105044
CTGGAGTGGGCACCCTGCAGCAGTGATGATCCAGAACTATGTGCTGTGACGTTCGTGGAC c.1920
L E W A P C S S D D P E L C A V T F V D p.640
. . . . . . g.105104
AGGCCAGTTATTGGCTCATCTGTGACCTACGATCATCCCTCCAAACCTGTTGAAAAAAGA c.1980
R P V I G S S V T Y D H P S K P V E K R p.660
. . . . . g.105158
CTCATGCCCCCACCCCCGCAAAAAAACAAAGATTCATGGCTGGACCATGTATGA c.2034
L M P P P P Q K N K D S W L D H V X p.677
. . . . . . g.105218
tgatgaaagcctgtgtctttgagggattctaccctgaacatacctcacagatcctccctg c.*60
. . . . . . g.105278
tcatgccacatttcactgattggaatgtggaaatggaaaaggaatttaggatgtgcattt c.*120
. . . . . . g.105338
tcacctgaggtttccctgcatccctgcagtgccaaagccccaccttcagggaccacctgg c.*180
. . . . . . g.105398
aatgtgtgaggggctgacagcacagtaacgtgcatacatatctgcagggctggaatggaa c.*240
. . . . . . g.105458
gctttaaaggtggtagtgatttttattttggaagaatcatgttacctttttgttaaataa c.*300
. . . . . . g.105518
aatttgtactcaaatgatgatgtcactgtttttaatgtgcaggtattgaattatatggtc c.*360
. . . . . . g.105578
tgacttaaatcataactagacttgagtgggctgaataaaccacttcactaacttgaagtt c.*420
. g.105595
caaaaggatggaaaata c.*437
(downstream sequence)
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