(used for variant description)
(last modified March 20, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_002633.2 in the PGM1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016966.1, covering PGM1 transcript NM_002633.2.
(upstream sequence)
. . . g.5033
cctttcccctcccgccggacctgccaggaggtg c.-181
. . . . . . g.5093
ggctggcgcggagggagggccctgtcccctgtccctttaaggaggagggccaaacgccgg c.-121
. . . . . . g.5153
cctagagtgcggcgtagcccccacccgccgtgccctcaccccagagcagctgcagcctca c.-61
. . . . . . g.5213
gccggccgcccctccgccagccaagtccgccgctctgacccccggcagcaagtcgccacc c.-1
. . . . . . g.5273
ATGGTGAAGATCGTGACAGTTAAGACCCAGGCGTACCAGGACCAGAAGCCGGGCACGAGC c.60
M V K I V T V K T Q A Y Q D Q K P G T S p.20
. . . . . . g.5333
GGGCTGCGGAAGCGGGTGAAGGTGTTCCAGAGCAGCGCCAACTACGCGGAGAACTTCATC c.120
G L R K R V K V F Q S S A N Y A E N F I p.40
. . . . . . g.5393
CAGAGTATCATCTCCACCGTGGAGCCGGCGCAGCGGCAGGAGGCCACGCTGGTGGTGGGC c.180
Q S I I S T V E P A Q R Q E A T L V V G p.60
. . . . . . g.5453
GGGGACGGCCGGTTCTACATGAAGGAGGCCATCCAGCTCATCGCTCGCATCGCTGCCGCC c.240
G D G R F Y M K E A I Q L I A R I A A A p.80
| 02 . . . . . . g.41203
AACGGG | ATCGGTCGCTTGGTTATCGGACAGAATGGAATCCTCTCCACCCCTGCTGTATCC c.300
N G | I G R L V I G Q N G I L S T P A V S p.100
. . . . . . g.41263
TGCATCATTAGAAAAATCAAAGCCATTGGTGGGATCATTCTGACAGCCAGTCACAACCCA c.360
C I I R K I K A I G G I I L T A S H N P p.120
. . . . | 03 . g.41677
GGGGGCCCCAATGGAGATTTTGGAATCAAATTCAATATTTCTAATGGAG | GTCCTGCTCCA c.420
G G P N G D F G I K F N I S N G G | P A P p.140
. . . . . . g.41737
GAAGCAATAACTGATAAAATTTTCCAAATCAGCAAGACAATTGAAGAATATGCAGTTTGC c.480
E A I T D K I F Q I S K T I E E Y A V C p.160
. . . . . . g.41797
CCTGACCTGAAAGTAGACCTTGGTGTTCTGGGAAAGCAGCAGTTTGACTTGGAAAATAAG c.540
P D L K V D L G V L G K Q Q F D L E N K p.180
. | 04 . . . . . g.43425
TTCAAACCCTTCACAG | TGGAAATTGTGGATTCGGTAGAAGCTTATGCTACAATGCTGAGA c.600
F K P F T V | E I V D S V E A Y A T M L R p.200
. . . . . . g.43485
AGCATCTTTGATTTCAGTGCACTGAAAGAACTACTTTCTGGGCCAAACCGACTGAAGATC c.660
S I F D F S A L K E L L S G P N R L K I p.220
. . | 05 . . . . g.46591
CGTATTGATGCTATGCATGGAG | TTGTGGGACCGTATGTAAAGAAGATCCTCTGTGAAGAA c.720
R I D A M H G V | V G P Y V K K I L C E E p.240
. . . . . . g.46651
CTCGGTGCCCCTGCGAACTCGGCAGTTAACTGCGTTCCTCTGGAGGACTTTGGAGGCCAC c.780
L G A P A N S A V N C V P L E D F G G H p.260
. . . . . . g.46711
CACCCTGACCCCAACCTCACCTATGCAGCTGACCTGGTGGAGACCATGAAGTCAGGAGAG c.840
H P D P N L T Y A A D L V E T M K S G E p.280
. . . | 06 . . . g.47985
CATGATTTTGGGGCTGCCTTTGATGGAGATGGG | GATCGAAACATGATTCTGGGCAAGCAT c.900
H D F G A A F D G D G | D R N M I L G K H p.300
. . . . . . g.48045
GGGTTCTTTGTGAACCCTTCAGACTCTGTGGCTGTCATTGCTGCCAACATCTTCAGCATT c.960
G F F V N P S D S V A V I A A N I F S I p.320
. . . . . . g.48105
CCGTATTTCCAGCAGACTGGGGTCCGCGGCTTTGCACGGAGCATGCCCACGAGTGGTGCT c.1020
P Y F Q Q T G V R G F A R S M P T S G A p.340
| 07 . . . . . g.50461
CTGGACCG | GGTGGCTAGTGCTACAAAGATTGCTTTGTATGAGACCCCAACTGGCTGGAAG c.1080
L D R | V A S A T K I A L Y E T P T G W K p.360
. . . . . . g.50521
TTTTTTGGGAATTTGATGGACGCGAGCAAACTGTCCCTTTGTGGGGAGGAGAGCTTCGGG c.1140
F F G N L M D A S K L S L C G E E S F G p.380
| 08 . . . . . . g.60297
ACCG | GTTCTGACCACATCCGTGAGAAAGATGGACTGTGGGCTGTCCTTGCCTGGCTCTCC c.1200
T G | S D H I R E K D G L W A V L A W L S p.400
. . . . . . g.60357
ATCCTAGCCACCCGCAAGCAGAGTGTGGAGGACATTCTCAAAGATCATTGGCAAAAGTAT c.1260
I L A T R K Q S V E D I L K D H W Q K Y p.420
. . | 09 . . . . g.63433
GGCCGGAATTTCTTCACCAG | GTATGATTACGAGGAGGTGGAAGCTGAGGGCGCAAACAAA c.1320
G R N F F T R | Y D Y E E V E A E G A N K p.440
. . . . . . g.63493
ATGATGAAGGACTTGGAGGCCCTGATGTTTGATCGCTCCTTTGTGGGGAAGCAGTTCTCA c.1380
M M K D L E A L M F D R S F V G K Q F S p.460
. . . . . . g.63553
GCAAATGACAAAGTTTACACTGTGGAGAAGGCCGATAACTTTGAATACAGCGACCCAGTG c.1440
A N D K V Y T V E K A D N F E Y S D P V p.480
. . | 10 . . . . g.66092
GATGGAAGCATTTCAAGAAATCAG | GGCTTGCGCCTCATTTTCACAGATGGTTCTCGAATC c.1500
D G S I S R N Q | G L R L I F T D G S R I p.500
. . . . . . g.66152
GTCTTCCGACTGAGCGGCACTGGGAGTGCCGGGGCCACCATTCGGCTGTACATCGATAGC c.1560
V F R L S G T G S A G A T I R L Y I D S p.520
. . . | 11 . . g.71331
TATGAGAAGGACGTTGCCAAGATTAACCAGGACCCCCAG | GTCATGTTGGCCCCCCTTATT c.1620
Y E K D V A K I N Q D P Q | V M L A P L I p.540
. . . . . . g.71391
TCCATTGCTCTGAAAGTGTCCCAGCTGCAGGAGAGGACGGGACGCACTGCACCCACTGTC c.1680
S I A L K V S Q L Q E R T G R T A P T V p.560
g.71400
ATCACCTAA c.1689
I T X p.562
. . . . . . g.71460
gaagacaggcctgatgtggtacgtccctccacccccggacccatccaagtcatctgattg c.*60
. . . . . . g.71520
aagagcatgacagaaacaaaatgtattcaccaagcattttaggatttgactttttcacta c.*120
. . . . . . g.71580
accagttgacgagcagtgcatttacaaggcactgccaaacaagatgcccttgggagctgt c.*180
. . . . . . g.71640
gagggaaagaggacctgcgggcttagatcaatctcaattccttttcatgccctcctgcat c.*240
. . . . . . g.71700
tgctgctgcgtgggtatttgtctccttagccatcaggtacagtttacactacaatgtaag c.*300
. . . . . . g.71760
ctataggtggagcatcagcagtgagtgaggccattcttcatccttaggatgtggcaatga c.*360
. . . . . . g.71820
aatgatggtgcaagttcctttctcttttgtgaatctttccccccatttcctgtttacatg c.*420
. . . . . . g.71880
taacccaacaaaatgcaatttctagtgccttctgtccaatcagttctttcctctgagtga c.*480
. . . . . . g.71940
gacgtacttggctacagatttctgccttgttttgcgacattgtcccattcacacagatat c.*540
. . . g.71970
tttgggataataaaggaaaataagctacaa c.*570
(downstream sequence)
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