(used for variant description)
(last modified December 30, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_013334.3 in the GMPPB gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_033731.1, covering GMPPB transcript variant-1 (NM_013334.3.). Transcript variant-2 (NM_021971.2) misses part of exon 8, splicing this out as an intron.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
g.4985
actgcccg c.-241
. . . . . . g.5045
cgccgggtccggcctgagttcggggccagcagccgtctacccggtgtcgcgttctgtgtt c.-181
. . . . . . g.5105
gtggcggccctggatccggcgtcagggcgaccgggcggacgaggtggagccagagtctgt c.-121
. . . . . . g.5165
caggcgggttggtgaagggcgcggggccgggcacggcgttgggagtgcgcggcagggacc c.-61
. . . . . . g.5225
ggccaggcgggctgcaggcacctcagagcccgggacaccccctcaacgtccgcaggcgcg c.-1
. . . . . . g.5285
ATGAAGGCACTGATCTTAGTGGGGGGCTATGGGACGCGGCTACGGCCGCTGACGCTGAGC c.60
M K A L I L V G G Y G T R L R P L T L S p.20
. . . . . . g.5345
ACCCCGAAGCCACTGGTGGACTTCTGCAATAAGCCCATCTTGCTGCACCAAGTGGAGGCG c.120
T P K P L V D F C N K P I L L H Q V E A p.40
| 02 . . . . . g.5530
CTAGCCGCG | GCAGGCGTGGACCACGTGATCCTGGCCGTGAGCTACATGTCGCAGGTGCTG c.180
L A A | A G V D H V I L A V S Y M S Q V L p.60
. . . | 03 . . . g.5679
GAGAAGGAAATGAAGGCACAGGAGCAGAGG | CTGGGAATCCGAATCTCCATGTCCCATGAA c.240
E K E M K A Q E Q R | L G I R I S M S H E p.80
. | 04 . . . . g.5878
GAGGAGCCTTTGGGGACAG | CTGGGCCCCTGGCGCTGGCCCGTGACCTACTCTCTGAGACT c.300
E E P L G T A | G P L A L A R D L L S E T p.100
. . . . . . g.5938
GCAGACCCTTTCTTCGTCCTCAACAGTGACGTGATCTGCGATTTCCCCTTCCAAGCCATG c.360
A D P F F V L N S D V I C D F P F Q A M p.120
. . . . | 05 . . g.6215
GTGCAGTTCCACCGGCACCATGGCCAGGAGGGCTCCATCCTG | GTGACCAAGGTGGAGGAA c.420
V Q F H R H H G Q E G S I L | V T K V E E p.140
. . . . . . g.6275
CCCTCCAAGTACGGTGTGGTGGTGTGTGAGGCTGACACAGGCCGCATTCACCGGTTCGTG c.480
P S K Y G V V V C E A D T G R I H R F V p.160
. . . . . . g.6335
GAGAAGCCACAGGTGTTTGTGTCCAATAAGATCAACGCAGGCATGTACATCCTGAGCCCT c.540
E K P Q V F V S N K I N A G M Y I L S P p.180
. . | 06 . . . . g.6480
GCAGTGCTGCAGCGCATCCAG | CTGCAGCCTACGTCCATTGAGAAGGAGGTCTTCCCCATT c.600
A V L Q R I Q | L Q P T S I E K E V F P I p.200
. . . . | 07 . . g.6613
ATGGCCAAGGAGGGGCAGCTATATGCCATGGAGTTACAGG | GCTTCTGGATGGACATTGGG c.660
M A K E G Q L Y A M E L Q G | F W M D I G p.220
. . . . . . g.6673
CAGCCCAAGGACTTCCTCACTGGCATGTGCCTCTTCCTGCAGTCACTGAGGCAGAAGCAG c.720
Q P K D F L T G M C L F L Q S L R Q K Q p.240
. . . . | 08 . g.6816
CCTGAGCGGCTGTGCTCAGGCCCTGGCATTGTGGGCAACGTGCTGGTG | GACCCAAGTGCC c.780
P E R L C S G P G I V G N V L V | D P S A p.260
. . . . . . g.6876
CGCATCGGCCAGAACTGCAGCATTGGCCCCAATGTGAGCCTGGGACCTGGCGTGGTGGTC c.840
R I G Q N C S I G P N V S L G P G V V V p.280
. . . . . . g.6936
GAAGATGGTGTGTGTATCCGGCGGTGCACGGTGCTGCGGGATGCCCGGATCCGTTCCCAT c.900
E D G V C I R R C T V L R D A R I R S H p.300
. . . . . . g.6996
TCCTGGCTTGAGTCCTGCATTGTGGGCTGGCGCTGCCGCGTGGGTCAGTGGGTAAGCCTG c.960
S W L E S C I V G W R C R V G Q W V S L p.320
. . . . . . g.7056
TGGGCTGGGCTGGGTGGGGAGAGGGGCGGGGAGTGTGCCTGCCTCCCTGACAAGGCCTAT c.1020
W A G L G G E R G G E C A C L P D K A Y p.340
. . . . . . g.7116
CCTCTCCTGGAGGTACGCATGGAGAACGTGACAGTGCTGGGTGAGGACGTCATAGTTAAT c.1080
P L L E V R M E N V T V L G E D V I V N p.360
. . . . . . g.7176
GATGAGCTCTACCTCAACGGAGCCAGCGTGCTGCCCCACAAGTCTATTGGCGAGTCAGTG c.1140
D E L Y L N G A S V L P H K S I G E S V p.380
. . g.7200
CCAGAGCCTCGTATCATCATGTGA c.1164
P E P R I I M X p.387
. . . . . . g.7260
ggggatgcagtggggctggccgagccccggttttcccatcagcaaggggagtgctggcct c.*60
. . . . . . g.7320
gacacatcagaagaccctggacttgtcattatttgtctggggggcactgggtgaagctga c.*120
. . . . . . g.7380
agctgttggacacctgccttctcatgtggacatcatctggcaggatccctgctgggcaca c.*180
. . . . . . g.7440
ccccacaaaccccactccctcaagaagggccagggccagggctgtatggaataataattt c.*240
. . . g.7476
aatgctcactgtggccctgactgaaagtcaagctca c.*276
(downstream sequence)
Legend: Powered by LOVD
v.3.0 Build 22
©2004-2019 Leiden
University Medical Center