(used for variant description)
(last modified July 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_022458.3 in the LMBR1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009240.1, covering LMBR1 transcript NM_022458.3.
(upstream sequence)
. . . g.5035
gactgcgcggcgcccgccctcccttagtcagagct c.-181
. . . . . . g.5095
gctcgtctgaggctgctgaggcgacggccggtgtcgtggtcgcggtacctgttccaacac c.-121
. . . . . . g.5155
ggctcgcgggcccgtgccggctccggtccccggcgcggctgtccgagcccctgcggcggg c.-61
. . . . . . g.5215
cggacgatggtgtggcggagcacgcggacgcgggcggcgcggcggcgggcatgaaggagg c.-1
. . . . . . g.5275
ATGGAAGGGCAGGACGAGGTGTCGGCGCGGGAGCAGCACTTCCACAGCCAAGTGCGGGAG c.60
M E G Q D E V S A R E Q H F H S Q V R E p.20
| 02 . . . . . . g.61377
TCCACG | ATATGTTTCCTTCTTTTTGCCATTCTCTACGTTGTTTCCTACTTCATCATCACA c.120
S T | I C F L L F A I L Y V V S Y F I I T p.40
. | 03 . . . | 04 g.71465
AGATACAAGAGAAAATCAG | ATGAACAAGAAGATGAAGATGCCATCGTCAACAGGATTTC | G c.180
R Y K R K S D | E Q E D E D A I V N R I S | p.60
. . . . . . g.71525
TTGTTTTTGAGCACGTTCACTCTCGCAGTGTCAGCTGGGGCTGTTTTGCTTTTACCCTTC c.240
L F L S T F T L A V S A G A V L L L P F p.80
. . . . . . g.71585
TCAATCATCAGCAATGAAATCCTGCTTTCTTTTCCTCAGAACTACTATATTCAGTGGCTA c.300
S I I S N E I L L S F P Q N Y Y I Q W L p.100
. | 05 . . . . g.101757
AATGGCTCCCTGATTCATG | GTTTGTGGAATCTTGCTTCCCTTTTTTCCAACCTTTGTTTA c.360
N G S L I H G | L W N L A S L F S N L C L p.120
. . . . . . g.101817
TTTGTATTGATGCCCTTTGCCTTTTTCTTTCTGGAATCAGAAGGCTTTGCTGGCCTGAAA c.420
F V L M P F A F F F L E S E G F A G L K p.140
| 06 . . . . . . g.134470
AAG | GGAATCCGAGCCCGCATTTTAGAGACTTTGGTCATGCTTCTTCTTCTTGCGTTACTC c.480
K | G I R A R I L E T L V M L L L L A L L p.160
. . . . . . g.134530
ATTCTTGGGATAGTGTGGGTAGCTTCAGCACTCATTGACAACGATGCCGCAAGCATGGAA c.540
I L G I V W V A S A L I D N D A A S M E p.180
. | 07 . . . . . g.135082
TCTTTATATG | ATCTCTGGGAGTTCTATCTACCCTATTTATATTCCTGTATATCATTGATG c.600
S L Y D | L W E F Y L P Y L Y S C I S L M p.200
. | 08 . . . . g.136051
GGATGTTTGTTACTTCTCT | TGTGTACACCAGTTGGCCTTTCTCGTATGTTCACAGTGATG c.660
G C L L L L L | C T P V G L S R M F T V M p.220
. . | 09 . . . . g.141779
GGTCAGTTGCTAGTGAAGCCAACA | ATTCTTGAAGACCTGGATGAACAAATTTATATCATT c.720
G Q L L V K P T | I L E D L D E Q I Y I I p.240
. . . | 10. . . g.163974
ACCTTAGAGGAAGAAGCACTCCAGAGACGACTAAATG | GGCTGTCTTCATCGGTGGAATAC c.780
T L E E E A L Q R R L N G | L S S S V E Y p.260
. . . . . | 11 g.169490
AACATAATGGAGTTGGAACAAGAACTTGAAAATGTAAAGACTCTTAAGACAAAATTAG | AG c.840
N I M E L E Q E L E N V K T L K T K L E | p.280
. . . . . . g.169550
AGGCGAAAAAAGGCTTCAGCATGGGAAAGAAATTTGGTGTATCCCGCTGTTATGGTTCTC c.900
R R K K A S A W E R N L V Y P A V M V L p.300
. | 12 . . . . . g.170246
CTTCTTATTGAGACA | TCCATCTCGGTCCTCTTGGTGGCTTGTAATATTCTTTGCCTATTG c.960
L L I E T | S I S V L L V A C N I L C L L p.320
. . . | 13 . . . g.172398
GTTGATGAAACAGCAATGCCAAAAGGAACAAGG | GGGCCTGGAATAGGAAATGCCTCTCTT c.1020
V D E T A M P K G T R | G P G I G N A S L p.340
. . . . | 14. . g.172696
TCTACGTTTGGTTTTGTGGGAGCTGCGCTTGAAATCATTTTGATTTT | CTATCTTATGGTG c.1080
S T F G F V G A A L E I I L I F | Y L M V p.360
. . . . . . g.172756
TCCTCTGTTGTCGGCTTCTATAGCCTTCGATTTTTTGGAAACTTTACTCCCAAGAAAGAT c.1140
S S V V G F Y S L R F F G N F T P K K D p.380
. | 15 . . . . g.174072
GACACAACTATGACAAAG | ATCATTGGAAATTGTGTGTCCATCTTGGTTTTGAGCTCTGCT c.1200
D T T M T K | I I G N C V S I L V L S S A p.400
. . | 16 . . . . g.210052
CTGCCTGTGATGTCGAGAACACTGG | GAATCACTAGATTTGATCTACTTGGCGACTTTGGA c.1260
L P V M S R T L G | I T R F D L L G D F G p.420
. . . . . . g.210112
AGGTTTAATTGGCTGGGAAATTTCTATATTGTATTATCCTACAATTTGCTTTTTGCTATT c.1320
R F N W L G N F Y I V L S Y N L L F A I p.440
. . . . . . g.210172
GTGACAACATTGTGTCTGGTCCGAAAATTCACCTCTGCAGTTCGAGAAGAACTTTTCAAG c.1380
V T T L C L V R K F T S A V R E E L F K p.460
| 17. . . . . . g.214098
GCCCTAG | GGCTTCATAAACTTCACTTACCAAATACTTCAAGGGATTCAGAAACAGCCAAG c.1440
A L G | L H K L H L P N T S R D S E T A K p.480
. . . g.214131
CCTTCTGTAAATGGGCATCAGAAAGCACTGTGA c.1473
P S V N G H Q K A L X p.490
. . . . . . g.214191
gacgcacagacggcgtcttctgccaccaagagacccgagaactccagattcacgacattc c.*60
. . . . . . g.214251
ctgtcccatgtagaagcatttccattcaaccgtggcccctcttcagaacctagacctatc c.*120
. . . . . . g.214311
agtgccatttttttttcataatctacgaagaacttggctatggctgatcttttttaaatt c.*180
. . . . . . g.214371
taactttctgatggaccctgtagtttccagttaagtgcagattccttacagacatataga c.*240
. . . . . . g.214431
acagcgcattcttctgtagacatttgctcatgttggtaaatacaatcacccatatgaaaa c.*300
. . . . . . g.214491
aattgttttcacctgatatgaaaatgttagaaaaggcaaactccgggacttctaaagatt c.*360
. . . . . . g.214551
tacttaaatcccattatgtactttattcagaatgtagaagctgacttgaaaggcatcctt c.*420
. . . . . . g.214611
ggtactaagtgaagcttattcagaaaatgcatttttcaaatgcaatggcaactgcttgta c.*480
. . . . . . g.214671
gatatcatttttgcagtgtatgttggagctgtaatggttgcaattatgtttcttatttcc c.*540
. . . . . . g.214731
ttaaaagcaaaaagcgtagtttctgatttatgttatagaatgatactgattagactttga c.*600
. . . . . . g.214791
gccaaggggaaaatactaaattcttttaaacctggagccttagagagccacaggaatatc c.*660
. . . . . . g.214851
ttctgttgtacagtctaataagctgtggtaggaagtatcatgtaatcacagtttaatgac c.*720
. . . . . . g.214911
agtttatgtatatatataattcagtattccctctgataacatagttgccagtgtttaata c.*780
. . . . . . g.214971
cacttgtaacttggatttttaccttataggctatatgtatactcagttttttaaagcatt c.*840
. . . . . . g.215031
tttttcagagatcacttaattccccatgcttctgcaatgcatataaaaactataaatgcc c.*900
. . . . . . g.215091
gagtggtagaaactcctctttcttcatagtcctcaggctttggttacatttgcatatgcc c.*960
. . . . . . g.215151
atttgaagcctccagcttttaccagtttaacatccaaagttcacagcatcagcattcatg c.*1020
. . . . . . g.215211
gtgtaagaacagttttgcagtataacacgatctgataatcattcagttattaaattgtaa c.*1080
. . . . . . g.215271
ataattattgggatggtttcttggctttaagtccactgaataaaaactatgaaattgcac c.*1140
. . . . . . g.215331
tctgtgtcaaccatccactaggatagaataccgaaatctgtgcatgcaaaaataggagat c.*1200
. . . . . . g.215391
gggcccatttgcacacaattcgtagttatgcagtctgctatataaatatgttcacatgca c.*1260
. . . . . . g.215451
ctgtgtgtatgaaaatagatggtctgtgttcagacaaaagtaaaacatttttttcaaatt c.*1320
. . . . . . g.215511
gttacatttaaaggttttctgggagaaatttatgaaacgcaggctgtgtctatttgacat c.*1380
. . . . . . g.215571
cagaaatttccactttaaaccaaaataataagaaactttaatctgtatatttacaacctt c.*1440
. . . . . . g.215631
tgttgagtacacttcccccttatttatacgtctgcatttccttccgagcttcacatcttt c.*1500
. . . . . . g.215691
ctaaaatgcagcttggttttaaaataaaagaacattcattttgtgattctaaacaagctt c.*1560
. . . . . . g.215751
cagtaaataccaccagtatagtactggtgaatttctcagcataaaatcgacatacctaaa c.*1620
. . . . . . g.215811
aagttaataaaattcagctcttttccaatttcattgttatgcctattgaagtattaattg c.*1680
. . . . . . g.215871
ccaggtttgatttttagtgaagcttggagtccatactttgagcagaccaagtgaagggaa c.*1740
. . . . . . g.215931
gaacagaaagaaactcaggagtagagtaatatcacttctcacttacaccactttcaggca c.*1800
. . . . . . g.215991
catccaaagagttcctagatacttggaaaatgtctgaaaatttttaagtaaaatactaaa c.*1860
. . . . . . g.216051
cttttcagtgtttagctcaactttttgttcatttggaagtttctctccatccgaggactt c.*1920
. . . . . . g.216111
aagccagttttggatttgtaagccctgagtacaatacacttcctggaggcatcctcactg c.*1980
. . . . . . g.216171
ctgttgaagcaaaggatatgcatggggtggaaggacggcttcgaacctgggactcatatg c.*2040
. . . . . . g.216231
ccttgagaacaaatagattgttacagccttgggctgctgcgtaatcacggttcctcgagg c.*2100
. . . . . . g.216291
ctcttcctgagcacatgcccaagcatctgcctctggagagactgactccaaatgcaggtg c.*2160
. . . . . . g.216351
cttccattggagctaggtcggaggctgctttatatgacgaactccagaaatggatgccag c.*2220
. . . . . . g.216411
aatacggaggccaaacgttctgagtcctggtaaggacagtcgctctgggggtcctcattt c.*2280
. . . . . . g.216471
tactgcagttcctgcacgccagtgaaagagaggagatagaccctggaaggcagagctgca c.*2340
. . . . . . g.216531
gatgctcatcatcaggtcaattctggagctacagttttgtttctgactggatagggatgc c.*2400
. . . . . . g.216591
accagtgactgtcacatcaagcagtccttttattctctctcctttagtatcgattttaaa c.*2460
. . . . . . g.216651
gggcattaggcactatggttccagagtttcttggggaaaacttgcagattcttattaatt c.*2520
. . . . . . g.216711
ggttctgcaatacttaaataaattattttacaattataagttttcagattataacatttg c.*2580
. . . . . . g.216771
tattaatttttactgattttccaagatacttcttagatttactatttacgtagctttatg c.*2640
. . . . . . g.216831
tacattctctgtaaaaatagacctctaaatatgaggctttacatgaaatttgtacacaca c.*2700
. . . . . . g.216891
tacacactaatgttagctccttaaattgctgcactaaggtgctggttagtagagatggac c.*2760
. . . . . . g.216951
ggagcctctcgcgttttgctctcagatgtgttaaaggcgcacgtgtacctgctctcagcg c.*2820
. . . . . . g.217011
gcagtgcggcctccccatctgctgggtgcccatggccctccctgcagcctcagtgatgac c.*2880
. . . . . . g.217071
ctcgtctgccagggacacaggttttcatcatttacaggctcttatgtgctagttttgttg c.*2940
. . . . . . g.217131
gtagcacgttatttaatgcataaaggcagaattcttacaagtttttttttttaatgtgaa c.*3000
. . . . . . g.217191
catagatgcagcaccgactttttaaacttgaaaaaactggtataatgttaacttttaaaa c.*3060
. . . . . . g.217251
ataacatttggacacactagtaattgatttttgtttacagattgttttgtttacaaattg c.*3120
. . . . . . g.217311
ttagtctttgtttctatgagatacttttagtgtgactttttaaatgtcttagaaattaaa c.*3180
. . g.217333
agttgtacaaaaagtgatttca c.*3202
(downstream sequence)
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