(used for variant description)
(last modified March 5, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_005609.2 in the PYGM gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013018.1, covering PYGM transcript NM_005609.2.
(upstream sequence)
. . . g.5037
acttactgtcattaaaccagtatgatgatggagtggg c.-781
. . . . . . g.5097
gaatgcctcagtttctcccaccgccgagggcctataggactacagttcccagggccccgt c.-721
. . . . . . g.5157
gctgcaggctagcggcctcccgccaatgctggccagtaacctgagcatccctctccaaaa c.-661
. . . . . . g.5217
ggtcacttcagggctccttgagggacagcaacagggggagcctagagctgctcagcttcg c.-601
. . . . . . g.5277
gtgggggtggagtgagggctgtggccctgcctcacacaacctccctcacaccacccctgc c.-541
. . . . . . g.5337
aatgcagggtcgtgggcccctttctcaaagacatccagtggcctctgctagttgcacctc c.-481
. . . . . . g.5397
ttccgtcaggggacactgacttggctcctgcaccacagcctgcagggggtcctggttcct c.-421
. . . . . . g.5457
tttgccacaacacatggcctcccatcctggttcagccactgacagacagctccccaatcc c.-361
. . . . . . g.5517
agcactctgcctgctccttcttgtatccaaccctccaaaaggcagggacaagggacagaa c.-301
. . . . . . g.5577
gaccatgtgcaaggcctggaggaagtgggtcagcacaggcctgtgaacaagccaggccag c.-241
. . . . . . g.5637
tcttggcggcccaagtggagctcacctctccctcccctctcctctcctccccttgccctc c.-181
. . . . . . g.5697
aaaatagctccctgagctgccaggccaagaccctcccattgcaggggaggcggggcgtgc c.-121
. . . . . . g.5757
tgcccagagccaggctttaaatccccttgaggctggggagctccactccttggctggagg c.-61
. . . . . . g.5817
cagtgctgaggccgccgtcccctctaccatcagtccagtccggcccgccctcctgcagcc c.-1
. . . . . . g.5877
ATGTCCCGGCCCCTGTCAGACCAAGAGAAAAGAAAGCAAATCAGTGTGCGTGGCCTGGCC c.60
M S R P L S D Q E K R K Q I S V R G L A p.20
. . . . . . g.5937
GGCGTGGAGAACGTGACTGAGCTGAAAAAGAACTTCAACCGGCACCTGCATTTCACACTC c.120
G V E N V T E L K K N F N R H L H F T L p.40
. . . . . . g.5997
GTAAAGGACCGCAATGTGGCCACCCCACGAGACTACTACTTTGCTCTGGCCCATACCGTG c.180
V K D R N V A T P R D Y Y F A L A H T V p.60
. . . . . . g.6057
CGCGACCACCTCGTGGGGCGCTGGATCCGCACGCAGCAGCACTACTATGAGAAGGACCCC c.240
R D H L V G R W I R T Q Q H Y Y E K D P p.80
| 02 . . . . . . g.7068
AAG | AGGATCTACTACCTGTCTTTAGAGTTCTATATGGGACGGACGCTACAGAACACCATG c.300
K | R I Y Y L S L E F Y M G R T L Q N T M p.100
. . . . | 03 . . g.7215
GTGAACCTGGCCTTAGAGAATGCCTGTGACGAGGCCACCTACCAG | CTGGGCCTGGACATG c.360
V N L A L E N A C D E A T Y Q | L G L D M p.120
. . . . . . g.7275
GAGGAGCTGGAGGAAATTGAGGAGGATGCGGGGCTGGGCAACGGGGGCCTGGGCCGGCTG c.420
E E L E E I E E D A G L G N G G L G R L p.140
| 04 . . . . . . g.7422
GCAG | CCTGCTTTCTTGACTCCATGGCAACACTGGGCCTGGCCGCCTATGGCTACGGGATT c.480
A A | C F L D S M A T L G L A A Y G Y G I p.160
. . . . | 05 . g.7817
CGCTATGAGTTTGGGATTTTTAACCAGAAGATCTCCGGGGGCTGGCAG | ATGGAGGAGGCC c.540
R Y E F G I F N Q K I S G G W Q | M E E A p.180
. . . . . . g.7877
GATGACTGGCTTCGCTACGGCAACCCCTGGGAGAAGGCCCGGCCCGAGTTCACGCTACCT c.600
D D W L R Y G N P W E K A R P E F T L P p.200
. . . . . . g.7937
GTGCACTTCTACGGCCATGTGGAGCACACCAGCCAGGGTGCCAAGTGGGTGGACACACAG c.660
V H F Y G H V E H T S Q G A K W V D T Q p.220
| 06 . . . . . . g.10217
| GTGGTACTGGCCATGCCCTACGATACGCCCGTGCCTGGCTATCGCAACAATGTTGTCAAC c.720
| V V L A M P Y D T P V P G Y R N N V V N p.240
. . . . . | 07 . g.10368
ACCATGCGCCTCTGGTCTGCCAAGGCTCCCAATGACTTCAACCTCAAGGACT | TCAATGTC c.780
T M R L W S A K A P N D F N L K D F | N V p.260
. . . . . . g.10428
GGTGGCTACATCCAGGCTGTGTTGGACCGAAACCTGGCGGAGAACATCTCTCGTGTCCTG c.840
G G Y I Q A V L D R N L A E N I S R V L p.280
. | 08 . . . . . g.10924
TACCCCAATGATAAT | TTCTTCGAAGGGAAGGAGCTGCGGCTGAAGCAGGAGTATTTCGTG c.900
Y P N D N | F F E G K E L R L K Q E Y F V p.300
. . . . . . g.10984
GTGGCTGCCACCCTCCAGGACATCATCCGTCGCTTCAAGTCTTCCAAGTTCGGCTGCCGT c.960
V A A T L Q D I I R R F K S S K F G C R p.320
. . . | 09 . . g.11391
GATCCCGTGCGCACGAACTTCGATGCCTTCCCAGATAAG | GTGGCCATCCAGCTCAATGAC c.1020
D P V R T N F D A F P D K | V A I Q L N D p.340
. . . . . . g.11451
ACCCACCCCTCCCTGGCCATCCCCGAGCTGATGAGGATCCTGGTGGACCTGGAACGGATG c.1080
T H P S L A I P E L M R I L V D L E R M p.360
. | 10 . . . . . g.11738
GACTGGGACAAG | GCGTGGGATGTGACAGTGAGGACCTGTGCCTACACCAACCACACGGTG c.1140
D W D K | A W D V T V R T C A Y T N H T V p.380
. . . . . . g.11798
CTGCCCGAGGCCCTGGAGCGCTGGCCGGTGCACCTCTTGGAGACGCTGCTGCCGCGGCAC c.1200
L P E A L E R W P V H L L E T L L P R H p.400
. . . | 11 . . g.12054
CTCCAGATCATCTACGAGATCAACCAGCGCTTCCTCAAC | CGGGTGGCGGCCGCATTCCCA c.1260
L Q I I Y E I N Q R F L N | R V A A A F P p.420
. . . . . . g.12114
GGGGACGTAGACCGGCTGCGGCGCATGTCGCTGGTGGAGGAGGGCGCAGTGAAGCGCATC c.1320
G D V D R L R R M S L V E E G A V K R I p.440
. . . . . . g.12174
AACATGGCACACCTGTGCATCGCGGGGTCGCACGCCGTCAACGGCGTGGCGCGCATCCAC c.1380
N M A H L C I A G S H A V N G V A R I H p.460
. . | 12 . . . . g.12565
TCCGAGATCCTCAAGAAGACCAT | CTTCAAAGACTTCTATGAGCTGGAGCCTCATAAGTTC c.1440
S E I L K K T I | F K D F Y E L E P H K F p.480
. . . . . . g.12625
CAGAATAAGACCAACGGCATCACCCCTCGGCGCTGGCTGGTTCTGTGTAACCCCGGGCTG c.1500
Q N K T N G I T P R R W L V L C N P G L p.500
. | 13 . . . . g.13253
GCAGAGGTCATTGCTGAG | CGCATCGGGGAGGACTTCATCTCTGACCTGGACCAGCTGCGC c.1560
A E V I A E | R I G E D F I S D L D Q L R p.520
. . . . . . g.13313
AAACTGCTCTCCTTTGTGGATGATGAAGCTTTCATTCGGGATGTGGCCAAAGTGAAGCAG c.1620
K L L S F V D D E A F I R D V A K V K Q p.540
| 14 . . . . . . g.13704
| GAAAACAAGTTGAAGTTTGCTGCCTACCTAGAGAGGGAATACAAAGTCCACATCAACCCC c.1680
| E N K L K F A A Y L E R E Y K V H I N P p.560
. . . . . . g.13764
AACTCACTCTTCGACATCCAGGTGAAGCGGATTCACGAATATAAACGACAGCTCCTCAAC c.1740
N S L F D I Q V K R I H E Y K R Q L L N p.580
. . | 15 . . . g.14092
TGCCTCCATGTCATCACCCTGTACAACC | GCATCAAGAGGGAGCCCAATAAGTTTTTTGTG c.1800
C L H V I T L Y N R | I K R E P N K F F V p.600
. . | 16. . . . g.14282
CCTCGGACTGTGATGATTGGAGGGAAG | GCTGCACCTGGGTACCACATGGCCAAGATGATC c.1860
P R T V M I G G K | A A P G Y H M A K M I p.620
. . . . . . g.14342
ATCAGACTCGTCACAGCCATCGGGGATGTGGTCAACCATGACCCGGCAGTGGGTGACCGC c.1920
I R L V T A I G D V V N H D P A V G D R p.640
. . . . | 17 . g.15143
CTCCGTGTCATCTTCCTGGAGAACTACCGAGTCTCACTGGCCGAGAAAG | TGATCCCAGCT c.1980
L R V I F L E N Y R V S L A E K V | I P A p.660
. . . . . . g.15203
GCAGACCTCTCTGAGCAGATCTCCACTGCGGGCACTGAAGCCTCAGGCACCGGCAACATG c.2040
A D L S E Q I S T A G T E A S G T G N M p.680
. . . . . . g.15263
AAGTTCATGCTCAACGGGGCTCTGACCATTGGCACCATGGACGGGGCCAATGTGGAGATG c.2100
K F M L N G A L T I G T M D G A N V E M p.700
. . . . . . g.15323
GCAGAAGAGGCGGGAGAGGAAAACTTCTTCATCTTTGGCATGCGGGTGGAGGATGTGGAT c.2160
A E E A G E E N F F I F G M R V E D V D p.720
. | 18. . . . . g.18400
AAGCTTGACCAAAGAGG | GTACAATGCCCAGGAGTACTACGATCGCATTCCTGAGCTTCGG c.2220
K L D Q R G | Y N A Q E Y Y D R I P E L R p.740
. . . . . . g.18460
CAGGTCATTGAGCAGCTGAGCAGTGGCTTCTTCTCCCCCAAACAGCCCGACCTGTTCAAG c.2280
Q V I E Q L S S G F F S P K Q P D L F K p.760
. . . | 19 . . . g.18756
GACATTGTCAATATGCTCATGCACCATGACCG | GTTTAAAGTCTTCGCAGATTATGAAGAC c.2340
D I V N M L M H H D R | F K V F A D Y E D p.780
. . . | 20 . . g.18928
TACATTAAATGCCAGGAGAAAGTCAGCGCCTTGTACAAG | AACCCAAGAGAGTGGACGCGG c.2400
Y I K C Q E K V S A L Y K | N P R E W T R p.800
. . . . . . g.18988
ATGGTGATCCGGAACATAGCCACCTCTGGCAAGTTCTCCAGTGACCGCACCATTGCCCAG c.2460
M V I R N I A T S G K F S S D R T I A Q p.820
. . . . . . g.19048
TATGCCCGGGAGATCTGGGGTGTGGAGCCTTCCCGCCAGCGCCTGCCAGCCCCGGATGAG c.2520
Y A R E I W G V E P S R Q R L P A P D E p.840
g.19057
GCCATCTGA c.2529
A I X p.842
. . . . . . g.19117
gcctccagaccagaccccaaaccagcccttgagtctgtcacactctcttgggccagcccc c.*60
. . . . . . g.19177
agcacctcatgcagagggtggggtactggagttagatctctaagcccctcctggaaccct c.*120
. . . . . . g.19237
cattttccccactctcaatgtcccagtgtccagcgtgactaaggacacgggcccccttcc c.*180
. . . . . . g.19297
gtcctcgggctcccggtcccctcctatttatggggtctgaccaactgcacccactcccta c.*240
. . . g.19327
ataaattcattctccttgggagcctcctta c.*270
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 12
©2004-2015 Leiden University Medical Center