(used for variant description)
(last modified October 22, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_005032.5 in the PLS3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012518.1, covering PLS3 transcript NM_005032.5.
(upstream sequence)
. . . . . g.5030
ttattaatcccacaagattgtgtgaatgtgtactccgagccaggcacgttggacttcta c.-361
. . . . . . g.5090
acttcctcttagcccaagtaggaaggggagactcaggcgctggggaccattctcctctcc c.-301
. . . . . . g.5150
ctgcagcagagttgcagtccctatccctcctgggtgcccatccccgtgcctattttcctg c.-241
. . . . . . g.5210
gatccccacccagttgatgtgacaggctcgtggcccaatccccttcctggttcccaggcc c.-181
. . . . . . g.5270
gactgctagcaccacccgagccaatggcggcggccgaggggcggagggggctggcaggag c.-121
. . . . . . g.5330
gggagggagcgctggctttagagccacagctgcaaagattccgaggtgcagaagttgtct c.-61
. . . . . . | 02 g.54357
gagtgcgttggtcggcggcagtcgggccagacccaggactctgcgactttac | atctttaa c.-1
. . . . . . g.54417
ATGGATGAGATGGCTACCACTCAGATTTCCAAAGATGAGCTTGATGAACTCAAAGAGGCC c.60
M D E M A T T Q I S K D E L D E L K E A p.20
. | 03 . . . . . g.66399
TTTGCAAAAGTTG | ATCTCAACAGCAACGGATTCATTTGTGACTATGAACTTCATGAGCTC c.120
F A K V D | L N S N G F I C D Y E L H E L p.40
. . . . . . g.66459
TTCAAGGAAGCTAATATGCCATTACCAGGATATAAAGTGAGAGAAATTATTCAGAAACTC c.180
F K E A N M P L P G Y K V R E I I Q K L p.60
. . . . . | 04. g.73307
ATGCTGGATGGTGACAGGAATAAAGATGGGAAAATAAGTTTTGACGAATTTGTTTAT | ATT c.240
M L D G D R N K D G K I S F D E F V Y | I p.80
. . . . . . g.73367
TTTCAAGAGGTAAAAAGTAGTGATATTGCCAAGACCTTCCGCAAAGCAATCAACAGGAAA c.300
F Q E V K S S D I A K T F R K A I N R K p.100
. . . . . . g.73427
GAAGGTATTTGTGCTCTGGGTGGAACTTCAGAGTTGTCCAGCGAAGGAACACAGCATTCT c.360
E G I C A L G G T S E L S S E G T Q H S p.120
| 05. . . . . . g.73994
TACTCAG | AGGAAGAAAAATATGCTTTTGTTAACTGGATAAACAAAGCTTTGGAAAATGAT c.420
Y S E | E E K Y A F V N W I N K A L E N D p.140
. . . . . . g.74054
CCTGATTGTAGACATGTTATACCAATGAACCCTAACACCGATGACCTGTTCAAAGCTGTT c.480
P D C R H V I P M N P N T D D L F K A V p.160
. . | 06 . . . . g.78146
GGTGATGGAATTGTGCTTTG | TAAAATGATTAACCTTTCAGTTCCTGATACCATTGATGAA c.540
G D G I V L C | K M I N L S V P D T I D E p.180
. . . . | 07 . . g.79005
AGAGCAATCAACAAGAAGAAACTTACACCCTTCATCATTCAG | GAAAACTTGAACTTGGCA c.600
R A I N K K K L T P F I I Q | E N L N L A p.200
. . . . . . g.79065
CTGAACTCTGCTTCTGCCATTGGGTGTCATGTTGTGAACATTGGTGCAGAAGATTTGAGG c.660
L N S A S A I G C H V V N I G A E D L R p.220
. . . . . . g.79125
GCTGGGAAACCTCATCTGGTTTTGGGACTGCTTTGGCAGATCATTAAGATCGGTTTGTTC c.720
A G K P H L V L G L L W Q I I K I G L F p.240
. . | 08 . . . g.80974
GCTGACATTGAATTAAGCAGGAATGAAG | CCTTGGCTGCTTTACTCCGAGATGGTGAGACT c.780
A D I E L S R N E A | L A A L L R D G E T p.260
. . . . . . g.81034
TTGGAGGAACTTATGAAATTGTCTCCAGAAGAGCTTCTGCTTAGATGGGCAAACTTTCAT c.840
L E E L M K L S P E E L L L R W A N F H p.280
. . . . . | 09 . g.84523
TTGGAAAACTCGGGCTGGCAAAAAATTAACAACTTTAGTGCTGACATCAAG | GATTCCAAA c.900
L E N S G W Q K I N N F S A D I K | D S K p.300
. . . . . . g.84583
GCCTATTTCCATCTTCTCAATCAAATCGCACCAAAAGGACAAAAGGAAGGTGAACCACGG c.960
A Y F H L L N Q I A P K G Q K E G E P R p.320
. . | 10. . . . g.87452
ATAGATATTAACATGTCAGGTTTCAAT | GAAACAGATGATTTGAAGAGAGCTGAGAGTATG c.1020
I D I N M S G F N | E T D D L K R A E S M p.340
. . . . . . g.87512
CTTCAACAAGCAGATAAATTAGGTTGCAGACAGTTTGTTACCCCTGCTGATGTTGTCAGT c.1080
L Q Q A D K L G C R Q F V T P A D V V S p.360
. . . . . . g.87572
GGAAACCCCAAACTCAACTTAGCTTTCGTGGCTAACCTGTTTAATAAATACCCAGCACTA c.1140
G N P K L N L A F V A N L F N K Y P A L p.380
. . . . | 11 . . g.89152
ACTAAGCCAGAGAACCAGGATATTGACTGGACTCTATTAGAAG | GAGAAACTCGTGAAGAA c.1200
T K P E N Q D I D W T L L E G | E T R E E p.400
. . . . . . g.89212
AGAACCTTCCGTAACTGGATGAACTCTCTTGGTGTCAATCCTCACGTAAACCATCTCTAT c.1260
R T F R N W M N S L G V N P H V N H L Y p.420
| 12 . . . . . . g.90244
GC | TGACCTGCAAGATGCCCTGGTAATCTTACAGTTATATGAACGAATTAAAGTTCCTGTT c.1320
A | D L Q D A L V I L Q L Y E R I K V P V p.440
. . . . . | 13. g.90519
GACTGGAGTAAGGTTAATAAACCTCCATACCCGAAACTGGGAGCCAACATGAAAAAG | CTA c.1380
D W S K V N K P P Y P K L G A N M K K | L p.460
. . . . . . g.90579
GAAAACTGCAACTATGCTGTTGAATTAGGGAAGCATCCTGCTAAATTCTCCCTGGTTGGC c.1440
E N C N Y A V E L G K H P A K F S L V G p.480
. . . . . . g.90639
ATTGGAGGGCAAGACCTGAATGATGGGAACCAAACCCTGACTTTAGCTTTAGTCTGGCAG c.1500
I G G Q D L N D G N Q T L T L A L V W Q p.500
. | 14 . . . . . g.91713
CTGATGAGAAG | ATATACCCTCAATGTCCTGGAAGATCTTGGAGATGGTCAGAAAGCCAAT c.1560
L M R R | Y T L N V L E D L G D G Q K A N p.520
. . . . . . g.91773
GACGACATCATTGTGAACTGGGTGAACAGAACGTTGAGTGAAGCTGGAAAATCAACTTCC c.1620
D D I I V N W V N R T L S E A G K S T S p.540
. | 15 . . . . . g.92052
ATTCAGAGTTTTAAG | GACAAGACGATCAGCTCCAGTTTGGCAGTTGTGGATTTAATTGAT c.1680
I Q S F K | D K T I S S S L A V V D L I D p.560
. . . . . . g.92112
GCCATCCAGCCAGGCTGTATAAACTATGACCTTGTGAAGAGTGGCAATCTAACAGAAGAT c.1740
A I Q P G C I N Y D L V K S G N L T E D p.580
. . | 16 . . . . g.93583
GACAAGCACAATAATGCCAA | GTATGCAGTGTCAATGGCTAGAAGAATCGGAGCCAGAGTG c.1800
D K H N N A K | Y A V S M A R R I G A R V p.600
. . . . . . g.93643
TATGCTCTCCCTGAAGACCTTGTGGAAGTAAAGCCCAAGATGGTCATGACTGTGTTTGCA c.1860
Y A L P E D L V E V K P K M V M T V F A p.620
. . . g.93676
TGTTTGATGGGCAGGGGAATGAAGAGAGTGTAA c.1893
C L M G R G M K R V X p.630
. . . . . . g.93736
aataaccaatctgaataaaacagccatgctcccaggtgcatgattcgcaggtcagctatt c.*60
. . . . . . g.93796
tccaggtgaagtgcttatggcttaaggaactcttggccattcaaaggacttttcattttg c.*120
. . . . . . g.93856
attaacaggactagcttatcatgagagccctcaggggaaagggtttaagaaaaacaactc c.*180
. . . . . . g.93916
ctctttcccatagtcagagttgaatttgtcaggcacgcctgaaatgtgctcatagccaaa c.*240
. . . . . . g.93976
acattttactctctcctcctagaatgctgcccttgacatttcccattgctgtatgttatt c.*300
. . . . . . g.94036
tcttgctctgttatcttttgccctcttagaatgtccctctcttgggacttgcttagatga c.*360
. . . . . . g.94096
tgggatatgaatattattagacagtaattttgctttccatccagtatgctagttcttatt c.*420
. . . . . . g.94156
cgagaactatggtcagagcgtatttggatatgagtatcctttgcttatctttgtagtact c.*480
. . . . . . g.94216
gaaaatttgccgaagtaactggctgtgcagaatgtaatagaagcttttcttattctttta c.*540
. . . . . . g.94276
ttcttaagatcagtatctttttacagtattctttctacatgatccttttttgtacattta c.*600
. . . . . . g.94336
agaatattttgattatattaaacaagactgctgattttgctactttttttaaggggtctt c.*660
. . . . . . g.94396
caagtaagtaaaacatacatcgtagctagaagaaaaatgtaccttaaatttgcatcttcc c.*720
. . . . . . g.94456
ctctcatacccaagctgtaaacaattgaaatattttgtcttaaatcacttggttcaatac c.*780
. . . . . . g.94516
atgcttatttgttttaaaacctgtatcatcaaactctctctctaaatttaaaatgctgtt c.*840
. . . . . . g.94576
gaatatgatacttttgaggagagagtgtgctcagaacttagacgggatttggtaggccaa c.*900
. . . . . . g.94636
gtatgctaagtgtacaatatattttttaattttacacctgaaacaaagaaatgtggtcac c.*960
. . . . . . g.94696
taaaaataaaagtatatatgtaggaattaatgtactcttgctttgtcaagctgtttgcta c.*1020
. . . . . . g.94756
tagtttccaaggtattatgttactctaactctgaaaagtgatgtaatctggtagcaatgt c.*1080
. . . . . . g.94816
agtagttcaaataaaggcatttacataataattagtctgttcttcatgcttttgtctctt c.*1140
. . . . . . g.94876
aggaagtatgccaatgtttgtcaggatttttttctttttgtttttctgatgtattctgta c.*1200
. . . . . . g.94936
aaatggtgtttgttaaatttgagttttgggagctgaattagaggtactgaattaaggaca c.*1260
. . . . g.94976
gtacaaatgaagtaaaaaggttttctccaatttaccaaaa c.*1300
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 21
©2004-2018 Leiden University Medical Center