(used for variant description)
(last modified October 14, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_031206.4 in the LAS1L gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016369.1, covering LAS1L transcript NM_031206.4.
(upstream sequence)
. . . g.5031
gctggtgcggtggcggttcggagtgagggta c.-61
. . . . . . g.5091
gcacgctgagctgaaggctgtgcggagcggcgcggcacagagcctgttgttgagctcagt c.-1
. . . . . . g.5151
ATGTCGTGGGAATCCGGGGCCGGGCCAGGTCTAGGTTCCCAGGGGATGGATCTCGTGTGG c.60
M S W E S G A G P G L G S Q G M D L V W p.20
. . . . . . g.5211
AGTGCGTGGTACGGAAAGTGCGTTAAAGGGAAAGGGTCGTTGCCACTCTCGGCCCACGGC c.120
S A W Y G K C V K G K G S L P L S A H G p.40
. . . . . . g.5271
ATCGTGGTCGCCTGGCTCAGCAGGGCCGAGTGGGACCAGGTGACGGTTTATCTGTTCTGT c.180
I V V A W L S R A E W D Q V T V Y L F C p.60
. . . . . | 02 . g.6075
GACGACCATAAGTTGCAGCGGTACGCGCTTAACCGCATCACGGTGTGGAGGAGCAG | GTCA c.240
D D H K L Q R Y A L N R I T V W R S R | S p.80
. . . . . . g.6135
GGCAACGAACTCCCTCTGGCAGTGGCTTCTACTGCTGACCTGATACGCTGTAAGCTCTTG c.300
G N E L P L A V A S T A D L I R C K L L p.100
. . . . . . g.6195
GATGTAACTGGTGGCTTGGGCACTGATGAACTTAGACTGCTCTATGGCATGGCATTGGTC c.360
D V T G G L G T D E L R L L Y G M A L V p.120
| 03 . . . . . . g.7234
AG | GTTTGTGAATCTTATCTCAGAGAGGAAGACAAAGTTTGCCAAGGTCCCCCTCAAGTGT c.420
R | F V N L I S E R K T K F A K V P L K C p.140
. | 04 . . . . . g.8416
CTGGCTCAAGAG | GTAAATATTCCGGATTGGATTGTTGACCTTCGCCATGAGTTGACCCAC c.480
L A Q E | V N I P D W I V D L R H E L T H p.160
. . . | 05 . . . g.9954
AAGAAAATGCCCCATATAAATGACTGCCGCAGAG | GCTGCTACTTTGTCCTGGATTGGCTC c.540
K K M P H I N D C R R G | C Y F V L D W L p.180
. . . . . . g.10014
CAGAAGACCTATTGGTGCCGCCAACTGGAGAACAGCCTGAGAGAGACCTGGGAGTTGGAG c.600
Q K T Y W C R Q L E N S L R E T W E L E p.200
. . . . . . g.10074
GAGTTCAGGGAAGGGATAGAGGAAGAGGATCAAGAGGAAGATAAGAACATTGTTGTTGAT c.660
E F R E G I E E E D Q E E D K N I V V D p.220
. . . . . . g.10134
GACATCACAGAACAGAAACCAGAGCCTCAGGATGATGGGAAAAGTACGGAGTCAGATGTA c.720
D I T E Q K P E P Q D D G K S T E S D V p.240
. . . . . . g.10194
AAGGCCGATGGAGACAGCAAAGGCAGCGAAGAGGTGGATTCTCATTGCAAAAAGGCCCTG c.780
K A D G D S K G S E E V D S H C K K A L p.260
. | 06 . . . . g.10589
AGTCATAAAGAGCTATATG | AAAGAGCCCGAGAACTGCTGGTATCATACGAAGAGGAGCAG c.840
S H K E L Y E | R A R E L L V S Y E E E Q p.280
| 07 . . . . . . g.11491
TTTACG | GTGCTGGAGAAATTTAGGTATTTACCTAAGGCCATTAAGGCGTGGAATAACCCG c.900
F T | V L E K F R Y L P K A I K A W N N P p.300
. . . . . | 08 . g.14760
TCCCCACGTGTAGAATGTGTCCTGGCAGAGCTCAAGGGCGTTACATGCGAGAACAG | GGAG c.960
S P R V E C V L A E L K G V T C E N R | E p.320
. . . . . . g.14820
GCTGTGCTGGATGCTTTTCTGGATGATGGCTTCCTTGTCCCCACATTTGAACAGTTGGCA c.1020
A V L D A F L D D G F L V P T F E Q L A p.340
. . | 09 . . . . g.15230
GCTTTGCAGATAGAATATGAAG | ATGGTCAGACTGAGGTCCAGAGAGGGGAAGGTACTGAC c.1080
A L Q I E Y E D | G Q T E V Q R G E G T D p.360
. | 10 . . . . . g.15591
CCAAAGTCACACA | AAAACGTGGACTTGAATGACGTCCTGGTGCCAAAGCCGTTCTCTCAG c.1140
P K S H K | N V D L N D V L V P K P F S Q p.380
. . . . . . g.15651
TTCTGGCAGCCCCTGCTCAGGGGCCTGCACTCCCAGAACTTCACGCAGGCCCTATTGGAG c.1200
F W Q P L L R G L H S Q N F T Q A L L E p.400
. . . . . . g.15711
AGGATGCTCTCTGAACTGCCAGCCTTGGGGATCAGCGGGATCCGGCCTACCTACATCCTC c.1260
R M L S E L P A L G I S G I R P T Y I L p.420
. . . . | 11 . . g.16119
AGATGGACCGTTGAACTGATCGTGGCCAACACCAAGACTG | GACGGAATGCTCGCCGATTT c.1320
R W T V E L I V A N T K T G | R N A R R F p.440
. . . . . . g.16179
TCTGCAGGCCAGTGGGAAGCAAGAAGGGGCTGGAGGCTGTTCAACTGCTCCGCCTCCCTT c.1380
S A G Q W E A R R G W R L F N C S A S L p.460
. . . . . . g.16239
GACTGGCCCCGGATGGTTGAGTCCTGCTTGGGCTCACCTTGCTGGGCCAGCCCCCAACTC c.1440
D W P R M V E S C L G S P C W A S P Q L p.480
| 12 . . . . . g.21393
CTTCGGAT | CATCTTCAAAGCCATGGGGCAGGGCCTGCCAGACGAGGAGCAGGAGAAGCTG c.1500
L R I | I F K A M G Q G L P D E E Q E K L p.500
. . . . . . g.21453
CTGCGCATCTGTTCCATTTATACCCAGAGTGGAGAAAACAGCCTGGTGCAGGAGGGCTCT c.1560
L R I C S I Y T Q S G E N S L V Q E G S p.520
. . . . . . g.21513
GAGGCCTCCCCCATTGGGAAGTCTCCATATACACTAGACAGCCTGTATTGGAGCGTCAAG c.1620
E A S P I G K S P Y T L D S L Y W S V K p.540
. . . . . . g.21573
CCAGCCAGCTCCAGCTTCGGGTCTGAAGCAAAGGCCCAGCAACAGGAGGAGCAGGGCAGT c.1680
P A S S S F G S E A K A Q Q Q E E Q G S p.560
. . . . . . g.21633
GTTAATGATGTCAAGGAAGAGGAGAAGGAGGAGAAAGAGGTCTTGCCAGACCAGGTAGAG c.1740
V N D V K E E E K E E K E V L P D Q V E p.580
. . . . . . g.21693
GAGGAGGAAGAAAATGATGACCAAGAGGAGGAAGAGGAGGATGAAGATGATGAAGATGAT c.1800
E E E E N D D Q E E E E E D E D D E D D p.600
. . . . . . g.21753
GAAGAGGAAGACAGAATGGAGGTGGGGCCTTTCTCTACAGGGCAAGAGTCCCCCACTGCC c.1860
E E E D R M E V G P F S T G Q E S P T A p.620
. . . . . . g.21813
GAGAATGCTAGGCTTCTGGCCCAGAAAAGAGGAGCTTTGCAGGGCTCTGCATGGCAGGTT c.1920
E N A R L L A Q K R G A L Q G S A W Q V p.640
| 13. . . . . . g.24886
AGCTCAG | AAGACGTGCGATGGGACACATTTCCCCTAGGCCGAATGCCAGGTCAGACCGAG c.1980
S S E | D V R W D T F P L G R M P G Q T E p.660
. . . . . . g.24946
GACCCAGCAGAGCTCATGCTGGAGAATTATGACACCATGTATCTTTTGGACCAGCCTGTG c.2040
D P A E L M L E N Y D T M Y L L D Q P V p.680
. . . | 14 . . g.26927
CTAGAGCAGCGGCTGGAACCCTCAACATGCAAGACTGA | CACCTTGGGCCTGAGCTGTGGT c.2100
L E Q R L E P S T C K T D | T L G L S C G p.700
. . . . . . g.26987
GTCGGCAGTGGCAACTGCAGCAACAGCAGCAGCAGCAACTTCGAGGGCCTTCTCTGGAGC c.2160
V G S G N C S N S S S S N F E G L L W S p.720
. . . . g.27032
CAGGGGCAGCTGCATGGGCTCAAAACTGGCCTGCAGCTCTTCTGA c.2205
Q G Q L H G L K T G L Q L F X p.734
. . . . . . g.27092
tggccatccctggtgcaagtgttcatccagccgtgccagggcaacagcccaccccctagt c.*60
. . . . . . g.27152
acaactgatgctccctgagacaacctgggagacagcctggatcagccacatcaactcagt c.*120
. . . . . . g.27212
tgtccaccacaggggaattttgaatgtcttttgtttttgttttgttttgaaaaataataa c.*180
. g.27225
acaggcaactgta c.*193
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 21
©2004-2018 Leiden University Medical Center