(used for variant description)
(last modified February 17, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001001438.2 in the LSS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011510.1, covering LSS transcript NM_001001438.2.
(upstream sequence)
. g.5019
aggggcggggctgggcggc c.-61
. . . . . . g.5079
aggtcccgggtgcggacatctggcagctggcagtgggcggcgtagagcactgcagcagca c.-1
. | 02 . . . . . g.5271
ATGACGGAGGGCAC | GTGTCTGCGGCGCCGAGGGGGCCCCTACAAGACCGAGCCCGCCACC c.60
M T E G T | C L R R R G G P Y K T E P A T p.20
. . . . . . g.5331
GACCTCGGCCGCTGGCGACTCAACTGCGAGAGGGGCCGGCAGACGTGGACCTACCTGCAG c.120
D L G R W R L N C E R G R Q T W T Y L Q p.40
. . . . . . g.5391
GACGAGCGCGCCGGCCGCGAGCAGACCGGCCTGGAAGCCTACGCCCTGGGGCTGGACACC c.180
D E R A G R E Q T G L E A Y A L G L D T p.60
| 03 . . . . . . g.6194
| AAGAATTACTTTAAGGACTTGCCCAAAGCCCACACCGCCTTTGAGGGGGCTCTGAACGGG c.240
| K N Y F K D L P K A H T A F E G A L N G p.80
. . . . . . g.6254
ATGACATTTTACGTGGGGCTGCAGGCTGAGGATGGGCACTGGACGGGTGATTATGGTGGC c.300
M T F Y V G L Q A E D G H W T G D Y G G p.100
. | 04 . . . . g.11127
CCACTTTTCCTCCTGCCAG | GCCTCCTGATCACTTGCCACGTGGCACGCATCCCTCTGCCA c.360
P L F L L P G | L L I T C H V A R I P L P p.120
. . . . . . g.11187
GCCGGATACAGAGAAGAGATTGTGCGGTACCTGCGGTCAGTGCAGCTCCCTGACGGTGGC c.420
A G Y R E E I V R Y L R S V Q L P D G G p.140
| 05 . . . . . g.11901
TGGGGCCT | GCACATTGAGGATAAGTCCACCGTGTTTGGGACTGCGCTCAACTATGTGTCT c.480
W G L | H I E D K S T V F G T A L N Y V S p.160
. . . . . . g.11961
CTCAGAATTCTGGGTGTTGGGCCTGACGATCCTGACCTGGTACGAGCCCGGAACATTCTT c.540
L R I L G V G P D D P D L V R A R N I L p.180
. | 06 . . . . . g.14302
CACAAGAAAG | GTGGTGCTGTGGCCATCCCCTCCTGGGGGAAGTTCTGGCTGGCTGTCCTG c.600
H K K G | G A V A I P S W G K F W L A V L p.200
. . . . | 07. . g.17313
AATGTTTACAGCTGGGAAGGCCTCAATACCCTGTTCCCAGAGATGTG | GCTGTTTCCTGAC c.660
N V Y S W E G L N T L F P E M W | L F P D p.220
. . . . . . g.17373
TGGGCACCGGCACACCCCTCCACACTCTGGTGCCACTGCCGGCAGGTGTACCTGCCCATG c.720
W A P A H P S T L W C H C R Q V Y L P M p.240
. . . . . . g.17433
AGCTACTGCTACGCCGTTCGGCTGAGTGCCGCGGAAGACCCGCTGGTCCAGAGCCTCCGC c.780
S Y C Y A V R L S A A E D P L V Q S L R p.260
| 08 . . . . . . g.18088
CAG | GAGCTCTATGTGGAGGACTTCGCCAGCATTGACTGGCTGGCGCAGAGGAACAACGTG c.840
Q | E L Y V E D F A S I D W L A Q R N N V p.280
. . . . . | 09 . g.18534
GCCCCCGACGAGCTGTACACGCCGCACAGCTGGCTGCTCCGCGTGGTATATG | CGCTCCTC c.900
A P D E L Y T P H S W L L R V V Y A | L L p.300
. . . . . . g.18594
AACCTGTATGAGCACCACCACAGTGCCCACCTGCGGCAGCGGGCCGTGCAGAAGCTGTAT c.960
N L Y E H H H S A H L R Q R A V Q K L Y p.320
. . . . . | 10 . g.19998
GAACACATTGTGGCCGACGACCGATTCACCAAGAGCATCAGCATCGGCCCG | ATCTCGAAA c.1020
E H I V A D D R F T K S I S I G P | I S K p.340
. . . . . . g.20058
ACCATCAACATGCTTGTGCGCTGGTATGTGGACGGGCCCGCCTCCACTGCCTTCCAGGAG c.1080
T I N M L V R W Y V D G P A S T A F Q E p.360
. . | 11 . . | 12. g.23083
CATGTCTCCAGAATCCCGGACTATCTCTG | GATGGGCCTTGACGGCATGAAAATGCAG | GGC c.1140
H V S R I P D Y L W | M G L D G M K M Q | G p.380
. . . . . | 13 . g.24205
ACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAG | GCGGGC c.1200
T N G S Q I W D T A F A I Q A L L E | A G p.400
. . . . . . g.24265
GGGCACCACAGGCCCGAGTTTTCGTCCTGCCTGCAGAAGGCTCATGAGTTCCTGAGGCTC c.1260
G H H R P E F S S C L Q K A H E F L R L p.420
| 14 . . . . . | 15. g.26250
TCACAG | GTCCCAGATAACCCTCCCGACTACCAGAAGTACTACCGCCAGATGCGCAAG | GGT c.1320
S Q | V P D N P P D Y Q K Y Y R Q M R K | G p.440
. . . . . . g.26310
GGCTTCTCCTTCAGTACGCTGGACTGCGGCTGGATCGTTTCTGACTGCACGGCTGAGGCC c.1380
G F S F S T L D C G W I V S D C T A E A p.460
. . . . . . g.26370
TTGAAGGCTGTGCTGCTCCTGCAGGAGAAGTGTCCCCATGTCACCGAGCACATCCCCAGA c.1440
L K A V L L L Q E K C P H V T E H I P R p.480
. . | 16. . . . g.27089
GAACGGCTCTGCGATGCTGTGGCTGTG | CTGCTGAACATGAGAAATCCAGATGGAGGGTTC c.1500
E R L C D A V A V | L L N M R N P D G G F p.500
. . . . . . g.27149
GCCACCTATGAGACCAAGCGTGGGGGGCACTTGCTGGAGCTGCTGAACCCCTCGGAGGTC c.1560
A T Y E T K R G G H L L E L L N P S E V p.520
| 17 . . . . . . g.27939
TTCG | GGGACATCATGATTGACTACACCTATGTGGAGTGCACCTCAGCCGTGATGCAGGCG c.1620
F G | D I M I D Y T Y V E C T S A V M Q A p.540
. . . . . | 18 . g.37567
CTTAAGTATTTCCACAAGCGTTTCCCGGAGCACAGGGCAGCGGAGATCCG | GGAGACCCTC c.1680
L K Y F H K R F P E H R A A E I R | E T L p.560
. . . . . | 19 . g.38072
ACGCAGGGCTTAGAGTTCTGTCGGCGGCAGCAGAGGGCCGATGGCTCCTGGGAAGG | CTCC c.1740
T Q G L E F C R R Q Q R A D G S W E G | S p.580
. . . . . . g.38132
TGGGGAGTTTGCTTCACCTACGGCACCTGGTTTGGCCTGGAGGCCTTCGCCTGTATGGGG c.1800
W G V C F T Y G T W F G L E A F A C M G p.600
. | 20. . . . . g.39206
CAGACCTACCGAGATGG | GACTGCCTGTGCAGAGGTCTCCCGGGCCTGTGACTTCCTGCTG c.1860
Q T Y R D G | T A C A E V S R A C D F L L p.620
. . . . . . g.39266
TCCCGGCAGATGGCAGACGGAGGCTGGGGGGAGGACTTTGAGTCCTGCGAGGAGCGGCGT c.1920
S R Q M A D G G W G E D F E S C E E R R p.640
. . . . . . g.39326
TATTTGCAGAGTGCCCAGTCCCAGATCCATAACACATGCTGGGCCATGATGGGGCTGATG c.1980
Y L Q S A Q S Q I H N T C W A M M G L M p.660
| 21 . . . . . g.41917
GCCGTTCG | GCATCCTGACATCGAGGCCCAGGAGAGAGGAGTCCGGTGTCTACTTGAGAAA c.2040
A V R | H P D I E A Q E R G V R C L L E K p.680
. . | 22. . . . g.42622
CAGCTCCCCAATGGCGACTGGCCGCAG | GAAAACATTGCTGGGGTCTTCAACAAGTCCTGT c.2100
Q L P N G D W P Q | E N I A G V F N K S C p.700
. . . . . . g.42682
GCCATCTCCTACACGAGCTACAGGAACATCTTCCCCATCTGGGCCCTCGGCCGCTTCTCC c.2160
A I S Y T S Y R N I F P I W A L G R F S p.720
. . . g.42721
CAGCTGTACCCTGAGAGAGCCCTTGCTGGCCACCCCTGA c.2199
Q L Y P E R A L A G H P X p.732
. . . | 23 . . g.45025
gaacatgcctacctgctgggtgccgtctgtgcgttcca | tggccttcaagtcacaggacgc c.*60
. . . . . . g.45085
agcgattccctgccctcttcggtgttattacacaggcaggacttcagtgtcagtatccct c.*120
. . . . . . g.45145
gccttcagtcttctttagaaatcacatctgtgttcaatccattgtttagagggagtgtat c.*180
. . . . . . g.45205
ttttcctgttccacgaagaggactttttgttcacaattggatcacaatgcagaggagtct c.*240
. . . . . . g.45265
gttcctcccccgtcggcttctcggtgctgggagggtgacctgtcccagatgactcatcac c.*300
. . . . . . g.45325
cctgacatgctcttgacaaaggacaccaccaagaggagatggcagctgtaccggtgcagc c.*360
. . . . . g.45379
ctctgtctgagggggatatttgcctcagtgtgattaaaaatcagtcatgaaaga c.*414
(downstream sequence)
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