(used for variant description)
(last modified April 19, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_000301.3 in the PLG gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering PLG transcript NM_000301.3.
(upstream sequence)
. . . . . g.5052
gaatcattaacttaatttgactatctggtttgtggatgcgtttactctcatg c.-61
. . . . . . g.5112
taagtcaacaacatcctgggattgggacccactttctgggcactgctggccagtcccaaa c.-1
. . . . | 02 . g.9225
ATGGAACATAAGGAAGTGGTTCTTCTACTTCTTTTATTTCTGAAATCAG | GTCAAGGAGAG c.60
M E H K E V V L L L L L F L K S G | Q G E p.20
. . . . . . g.9285
CCTCTGGATGACTATGTGAATACCCAGGGGGCTTCACTGTTCAGTGTCACTAAGAAGCAG c.120
P L D D Y V N T Q G A S L F S V T K K Q p.40
. . . . . . g.9345
CTGGGAGCAGGAAGTATAGAAGAATGTGCAGCAAAATGTGAGGAGGACGAAGAATTCACC c.180
L G A G S I E E C A A K C E E D E E F T p.60
| 03 . . . . . . g.10562
TGCAG | GGCATTCCAATATCACAGTAAAGAGCAACAATGTGTGATAATGGCTGAAAACAGG c.240
C R | A F Q Y H S K E Q Q C V I M A E N R p.80
. . . . . | 04 . g.13892
AAGTCCTCCATAATCATTAGGATGAGAGATGTAGTTTTATTTGAAAAGAAAG | TGTATCTC c.300
K S S I I I R M R D V V L F E K K V | Y L p.100
. . . . . . g.13952
TCAGAGTGCAAGACTGGGAATGGAAAGAACTACAGAGGGACGATGTCCAAAACAAAAAAT c.360
S E C K T G N G K N Y R G T M S K T K N p.120
. . . . | 05. . g.15806
GGCATCACCTGTCAAAAATGGAGTTCCACTTCTCCCCACAGACCTAG | ATTCTCACCTGCT c.420
G I T C Q K W S S T S P H R P R | F S P A p.140
. . . . . . g.15866
ACACACCCCTCAGAGGGACTGGAGGAGAACTACTGCAGGAATCCAGACAACGATCCGCAG c.480
T H P S E G L E E N Y C R N P D N D P Q p.160
. . . . . . g.15926
GGGCCCTGGTGCTATACTACTGATCCAGAAAAGAGATATGACTACTGCGACATTCTTGAG c.540
G P W C Y T T D P E K R Y D Y C D I L E p.180
| 06. . . . . . g.17654
TGTGAAG | AGGAATGTATGCATTGCAGTGGAGAAAACTATGACGGCAAAATTTCCAAGACC c.600
C E E | E C M H C S G E N Y D G K I S K T p.200
. . . . . . g.17714
ATGTCTGGACTGGAATGCCAGGCCTGGGACTCTCAGAGCCCACACGCTCATGGATACATT c.660
M S G L E C Q A W D S Q S P H A H G Y I p.220
| 07 . . . . . g.19504
CCTTCCAA | ATTTCCAAACAAGAACCTGAAGAAGAATTACTGTCGTAACCCCGATAGGGAG c.720
P S K | F P N K N L K K N Y C R N P D R E p.240
. . . . . . g.19564
CTGCGGCCTTGGTGTTTCACCACCGACCCCAACAAGCGCTGGGAACTTTGTGACATCCCC c.780
L R P W C F T T D P N K R W E L C D I P p.260
| 08. . . . . . g.21154
CGCTGCA | CAACACCTCCACCATCTTCTGGTCCCACCTACCAGTGTCTGAAGGGAACAGGT c.840
R C T | T P P P S S G P T Y Q C L K G T G p.280
. . . . . . g.21214
GAAAACTATCGCGGGAATGTGGCTGTTACCGTGTCCGGGCACACCTGTCAGCACTGGAGT c.900
E N Y R G N V A V T V S G H T C Q H W S p.300
. . . . . | 09 . g.21510
GCACAGACCCCTCACACACATAACAGGACACCAGAAAACTTCCCCTGCAA | AAATTTGGAT c.960
A Q T P H T H N R T P E N F P C K | N L D p.320
. . . . . . g.21570
GAAAACTACTGCCGCAATCCTGACGGAAAAAGGGCCCCATGGTGCCATACAACCAACAGC c.1020
E N Y C R N P D G K R A P W C H T T N S p.340
. . . . . . g.21630
CAAGTGCGGTGGGAGTACTGTAAGATACCGTCCTGTGACTCCTCCCCAGTATCCACGGAA c.1080
Q V R W E Y C K I P S C D S S P V S T E p.360
. | 10 . . . . . g.25259
CAATTGGCTCCCACAG | CACCACCTGAGCTAACCCCTGTGGTCCAGGACTGCTACCATGGT c.1140
Q L A P T A | P P E L T P V V Q D C Y H G p.380
. . . . . . g.25319
GATGGACAGAGCTACCGAGGCACATCCTCCACCACCACCACAGGAAAGAAGTGTCAGTCT c.1200
D G Q S Y R G T S S T T T T G K K C Q S p.400
. . . . . | 11 . g.33862
TGGTCATCTATGACACCACACCGGCACCAGAAGACCCCAGAAAACTACCCAAATGC | TGGC c.1260
W S S M T P H R H Q K T P E N Y P N A | G p.420
. . . . . . g.33922
CTGACAATGAACTACTGCAGGAATCCAGATGCCGATAAAGGCCCCTGGTGTTTTACCACA c.1320
L T M N Y C R N P D A D K G P W C F T T p.440
. . . . . . g.33982
GACCCCAGCGTCAGGTGGGAGTACTGCAACCTGAAAAAATGCTCAGGAACAGAAGCGAGT c.1380
D P S V R W E Y C N L K K C S G T E A S p.460
. . . . . | 12 g.34554
GTTGTAGCACCTCCGCCTGTTGTCCTGCTTCCAGATGTAGAGACTCCTTCCGAAGAAG | AC c.1440
V V A P P P V V L L P D V E T P S E E D | p.480
. . . . . . g.34614
TGTATGTTTGGGAATGGGAAAGGATACCGAGGCAAGAGGGCGACCACTGTTACTGGGACG c.1500
C M F G N G K G Y R G K R A T T V T G T p.500
. . . . . . g.34674
CCATGCCAGGACTGGGCTGCCCAGGAGCCCCATAGACACAGCATTTTCACTCCAGAGACA c.1560
P C Q D W A A Q E P H R H S I F T P E T p.520
. . | 13. . . . g.36835
AATCCACGGGCGGGTCTGGAAAAAAAT | TACTGCCGTAACCCTGATGGTGATGTAGGTGGT c.1620
N P R A G L E K N | Y C R N P D G D V G G p.540
. . . . . . g.36895
CCCTGGTGCTACACGACAAATCCAAGAAAACTTTACGACTACTGTGATGTCCCTCAGTGT c.1680
P W C Y T T N P R K L Y D Y C D V P Q C p.560
| 14 . . . . . . g.39753
G | CGGCCCCTTCATTTGATTGTGGGAAGCCTCAAGTGGAGCCGAAGAAATGTCCTGGAAGG c.1740
A | A P S F D C G K P Q V E P K K C P G R p.580
. . . . . . g.39813
GTTGTAGGGGGGTGTGTGGCCCACCCACATTCCTGGCCCTGGCAAGTCAGTCTTAGAACA c.1800
V V G G C V A H P H S W P W Q V S L R T p.600
| 15 . . . . . . g.41403
AG | GTTTGGAATGCACTTCTGTGGAGGCACCTTGATATCCCCAGAGTGGGTGTTGACTGCT c.1860
R | F G M H F C G G T L I S P E W V L T A p.620
. | 16. . . . . g.41918
GCCCACTGCTTGGAGAA | GTCCCCAAGGCCTTCATCCTACAAGGTCATCCTGGGTGCACAC c.1920
A H C L E K | S P R P S S Y K V I L G A H p.640
. . . . . . g.41978
CAAGAAGTGAATCTCGAACCGCATGTTCAGGAAATAGAAGTGTCTAGGCTGTTCTTGGAG c.1980
Q E V N L E P H V Q E I E V S R L F L E p.660
. . . | 17 . . g.44140
CCCACACGAAAAGATATTGCCTTGCTAAAGCTAAGCAG | TCCTGCCGTCATCACTGACAAA c.2040
P T R K D I A L L K L S S | P A V I T D K p.680
. . . . . . g.44200
GTAATCCCAGCTTGTCTGCCATCCCCAAATTATGTGGTCGCTGACCGGACCGAATGTTTC c.2100
V I P A C L P S P N Y V V A D R T E C F p.700
. . | 18 . . . . g.54957
ATCACTGGCTGGGGAGAAACCCAAG | GTACTTTTGGAGCTGGCCTTCTCAAGGAAGCCCAG c.2160
I T G W G E T Q G | T F G A G L L K E A Q p.720
. . . . . . g.55017
CTCCCTGTGATTGAGAATAAAGTGTGCAATCGCTATGAGTTTCTGAATGGAAGAGTCCAA c.2220
L P V I E N K V C N R Y E F L N G R V Q p.740
. . . . . | 19 . g.55716
TCCACCGAACTCTGTGCTGGGCATTTGGCCGGAGGCACTGACAGTTGCCAG | GGTGACAGT c.2280
S T E L C A G H L A G G T D S C Q | G D S p.760
. . . . . . g.55776
GGAGGTCCTCTGGTTTGCTTCGAGAAGGACAAATACATTTTACAAGGAGTCACTTCTTGG c.2340
G G P L V C F E K D K Y I L Q G V T S W p.780
. . . . . . g.55836
GGTCTTGGCTGTGCACGCCCCAATAAGCCTGGTGTCTATGTTCGTGTTTCAAGGTTTGTT c.2400
G L G C A R P N K P G V Y V R V S R F V p.800
. . . g.55869
ACTTGGATTGAGGGAGTGATGAGAAATAATTAA c.2433
T W I E G V M R N N X p.810
. . . . . . g.55929
ttggacgggagacagagtgacgcactgactcacctagaggctggaacgtgggtagggatt c.*60
. . . . . . g.55989
tagcatgctggaaataactggcagtaatcaaacgaagacactgtccccagctaccagcta c.*120
. . . . . . g.56049
cgccaaacctcggcattttttgtgttattttctgactgctggattctgtagtaaggtgac c.*180
. . . . . . g.56109
atagctatgacatttgttaaaaataaactctgtacttaactttgatttgagtaaattttg c.*240
. . . . . . g.56169
gttttggtcttcaacattttcatgctctttgttcaccccaccaatttttaaatgggcaga c.*300
. . . . . . g.56229
tggggggatttagctgcttttgataaggaacagctgcacaaaggactgagcaggctgcaa c.*360
. . . . . . g.56289
ggtcacagaggggagagccaagaagttgtccacgcatttacctcatcagctaacgagggc c.*420
. . . . . . g.56349
ttgacatgcatttttactgtctttattcctgacactgagatgaatgttttcaaagctgca c.*480
. . . . . . g.56409
acatgtatggggagtcatgcaaaccgattctgttattgggaatgaaatctgtcaccgact c.*540
. . . . . . g.56469
gcttgacttgagcccaggggacacggagcagagagctgtatatgatggagtgaaccggtc c.*600
. . . . . . g.56529
catggatgtgtaacacaagaccaactgagagtctgaatgttattctggggcacacgtgag c.*660
. . . . . . g.56589
tctaggattggtgccaagagcatgtaaatgaacaacaagcaaatattgaaggtggaccac c.*720
. . . . . . g.56649
ttatttcccattgctaattgcctgcccggttttgaaacagtctgcagtacacacggtcac c.*780
. . . . . . g.56709
aggagaatgacctgtgggagagatacatgtttagaaggaagagaaaggacaaaggcacac c.*840
. . . . . . g.56769
gttttaccatttaaaatattgttaccaaacaaaaatatccattcaaaatacaatttaaca c.*900
. . . . . . g.56829
atgcaacagtcatcttacagcagagaaatgcagagaaaagcaaaactgcaagtgactgtg c.*960
. . . g.56862
aataaagggtgaatgtagtctcaaatcctcaaa c.*993
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 26
©2004-2021 Leiden University Medical Center