(used for variant description)
(last modified June 28, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_006767.3 in the LZTR1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000022.10, covering LZTR1 transcript NM_006767.3.
(upstream sequence)
. . . . g.5043
accgtcagcgcagggctcgccgggaaatgtggtttctccagcc c.-61
. . . . . . g.5103
ggcccggggcggtggccgcaagttgggcttacagcgcggccgatccggcgtggacccggg c.-1
. . . . . . g.5163
ATGGCTGGACCGGGCAGCACGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCG c.60
M A G P G S T G G Q I G A A A L A G G A p.20
. . . . . . g.5223
CGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTAC c.120
R S K V A P S V D F D H S C S D S V E Y p.40
. . . . . . g.5283
CTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGC c.180
L T L N F G P F E T V H R W R R L P P C p.60
. . | 02 . . . . g.5798
GACGAGTTCGTGGGTGCCCG | GCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATT c.240
D E F V G A R | R S K H T V V A Y K D A I p.80
. . | 03 . . . . g.8609
TATGTATTTGGTGGAGACAATGG | GAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTG c.300
Y V F G G D N G | K T M L N D L L R F D V p.100
. . | 04 . . . . g.10275
AAAGACTGCTCCTGGTGCAG | GGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCAC c.360
K D C S W C R | A F T T G T P P A P R Y H p.120
. . . . | 05 . . g.10761
CACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTG | GGGGTTACACTGGGGACATT c.420
H S A V V Y G S S M F V F G | G Y T G D I p.140
. . . . . . g.10821
TATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGC c.480
Y S N S N L K N K N D L F E Y K F A T G p.160
. . | 06 . . . g.11551
CAGTGGACGGAGTGGAAAATTGAAGGACG | GTTGCCAGTCGCTAGGTCAGCCCATGGGGCC c.540
Q W T E W K I E G R | L P V A R S A H G A p.180
. . . . . | 07 . g.12363
ACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAG | GTTGAAT c.600
T V Y S D K L W I F A G Y D G N A R | L N p.200
. . . . . | 08 . g.13126
GACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAG | GTGGCCCAG c.660
D M W T I G L Q D R E L T C W E E | V A Q p.220
. . . . . . g.13186
AGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATG c.720
S G E I P P S C C N F P V A V C R D K M p.240
. . . . . . g.13246
TTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTC c.780
F V F S G Q S G A K I T N N L F Q F E F p.260
. | 09 . . . . . g.14408
AAGGACAAGAC | GTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCC c.840
K D K T | W T R I P T E H L L R G S P P P p.280
. . . . . . g.14468
CCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGG c.900
P Q R R Y G H T M V A F D R H L Y V F G p.300
. . . . . . g.14528
GGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACC c.960
G A A D N T L P N E L H C Y D V D F Q T p.320
. . . | 10 . . . g.14972
TGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAG | GTTGGTGGGGCTGAAGTGCCCGAGCGA c.1020
W E V V Q P S S D S E | V G G A E V P E R p.340
. . . . . . g.15032
GCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAG c.1080
A C A S E E V P T L T Y E E R V G F K K p.360
. . . . . . g.15092
TCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCT c.1140
S R D V F G L D F G T T S A K Q P T Q P p.380
| 11 . . . . . g.15576
GCCTCGGAG | CTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATG c.1200
A S E | L P S G R L F H A A A V I S D A M p.400
. . . . . . g.15636
TACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAG c.1260
Y I F G G T V D N N I R S G E M Y R F Q p.420
| 12 . . . . . . g.16453
| TTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGC c.1320
| F S C Y P K C T L H E D Y G R L W E S R p.440
. . . | 13 . . . g.16682
CAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAG | AAGGAGGAGTGCGTGCAGGGCCACGTA c.1380
Q F C D V E F V L G E | K E E C V Q G H V p.460
. . . . . . g.16742
GCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGG c.1440
A I V T A R S R W L R R K I T Q A R E R p.480
| 14 . . . . . g.16886
CTGGCCCAG | AAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCT c.1500
L A Q | K L E Q E A A P V P R E A P G V A p.500
. . . . . . g.16946
GCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCC c.1560
A G G A R P P L L H V A I R E A E A R P p.520
. . . . . | 15 . g.17294
TTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAG | GCCAT c.1620
F E V L M Q F L Y T D K I K Y P R K G | H p.540
. . . . . . g.17354
GTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGC c.1680
V E D V L L I M D V Y K L A L S F Q L C p.560
. . . . . . g.17414
CGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTG c.1740
R L E Q L C R Q Y I E A S V D L Q N V L p.580
. . . . | 16 . . g.17616
GTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAG | GAGCACTGCCTGAAC c.1800
V V C E S A A R L Q L S Q L K | E H C L N p.600
. . . . . . g.17676
TTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGCCTC c.1860
F V V K E S H F N Q V I M M K E F E R L p.620
. . . . . . g.17736
TCCTCTCCACTGATAGTGGAGATTGTGCGGCGGAAGCAGCAGCCGCCCCCTCGCACTCCC c.1920
S S P L I V E I V R R K Q Q P P P R T P p.640
. . | 17 . . . . g.18515
TTGGACCAGCCAGTGGACATTG | GCACATCTCTGATCCAGGACATGAAGGCATACCTGGAG c.1980
L D Q P V D I G | T S L I Q D M K A Y L E p.660
. . . . . . g.18575
GGAGCGGGCGCGGAATTCTGTGACATCACTCTGTTGCTTGACGGGCACCCACGGCCAGCC c.2040
G A G A E F C D I T L L L D G H P R P A p.680
. . | 18 . . . g.18725
CACAAGGCTATCCTGGCCGCCCGCTCCAG | CTACTTTGAAGCCATGTTCCGGTCCTTCATG c.2100
H K A I L A A R S S | Y F E A M F R S F M p.700
. . . . . . g.18785
CCCGAAGATGGGCAGGTGAACATCTCCATCGGGGAGATGGTGCCCAGCAGGCAGGCCTTC c.2160
P E D G Q V N I S I G E M V P S R Q A F p.720
. . . . . | 19 g.19428
GAGTCCATGCTGCGCTACATCTACTACGGCGAGGTCAACATGCCGCCCGAGGACTCGCT | C c.2220
E S M L R Y I Y Y G E V N M P P E D S L | p.740
. . . . . . g.19488
TACTTGTTTGCGGCCCCCTACTACTACGGCTTCTACAACAACCGGCTGCAGGCGTACTGC c.2280
Y L F A A P Y Y Y G F Y N N R L Q A Y C p.760
. . . . | 20 . . g.19632
AAGCAGAACCTGGAGATGAACGTGACGGTGCAGAACGTGCTGCAG | ATCCTGGAGGCAGCT c.2340
K Q N L E M N V T V Q N V L Q | I L E A A p.780
. . . . . . g.19692
GACAAAACGCAGGCACTGGACATGAAGCGGCACTGCCTGCACATCATTGTGCACCAGTTC c.2400
D K T Q A L D M K R H C L H I I V H Q F p.800
| 21 . . . . . . g.20017
ACCAAG | GTCTCCAAGTTGCCCACCCTGCGGTCGCTGAGCCAGCAGCTGCTGCTGGACATC c.2460
T K | V S K L P T L R S L S Q Q L L L D I p.820
. . . . . . g.20077
ATAGACTCCCTGGCCTCCCACATCTCAGACAAGCAGTGCGCAGAGCTGGGCGCCGACATC c.2520
I D S L A S H I S D K Q C A E L G A D I p.840
g.20080
TGA c.2523
X p.840
. . . . . . g.20140
ggccctgtggcgcctgcccattgtgaagaatcgccgtgcctgcctgccctgcctactgag c.*60
. . . . . . g.20200
aagactaccggctatgcgcatgcctatggcagtgggtgcacctgccaggccaagggtcag c.*120
. . . . . . g.20260
ggtgcccagagcctccaaagagagctgaggggatgtggggccccaaactcattaattcac c.*180
. . . . . . g.20320
tgaagacacaggtcccacagggagcggatgatgaagcagaccccctcctgtcatcaccct c.*240
. . . . . . g.20380
ctcctggtgtagtgtggatgcgaggccacggctcagtgatgggctcaccacccagaagtg c.*300
. . . . . . g.20440
gggagagactttgggcctcccacccagtggggcttggcctggcttctgtggcctgggcgt c.*360
. . . . . . g.20500
gttgtggactcaggcactggggcctgtcaccaaggctcctccaacatgcgggaggaggct c.*420
. . . . . . g.20560
tagcagacttgcgctgcaccagcgaatctgcctgggctgctcctgtcccacccaccctca c.*480
. . . . . . g.20620
ctgagatccatgtaaggggctcctcttcccacctggaacttgtgagtggggacccatgat c.*540
. . . . . . g.20680
gtatgggtctcacctgacttgaggtgaattttggagtgaagggccctgaggtcagctccc c.*600
. . . . . . g.20740
aggtcggtcgtgctgggccaggcctggttttcacaggggctgaaggatcccagtccacct c.*660
. . . . . . g.20800
gtgtgcatgtcagggctcggccgggaagaagccagcaaagtcccccgtgtcccttgctga c.*720
. . . . . . g.20860
gtattctgtcacagacaagcctccattaaagccacagcagtgctacccaccacacacacc c.*780
. . . . . . g.20920
ttgctggcccggccaccactgctggcttcagccccttgagcagcccatggcttagcagac c.*840
. . . . . . g.20980
ccccagatgtaggtcagtggccttacctgtctctatccatgctgtcaactcctgcctcca c.*900
. . . . . . g.21040
cctggggtcacccagtcacattgggaagggctgtgaaggcctccaggctggccccttcca c.*960
. . . . . . g.21100
ggggaatcctggaggcctggggtgggctcctgccccttctgccctgccttgcccctgcac c.*1020
. . . . . . g.21160
tatgctcttggctcctgtggaaggagggctgccctcttgccctagtgagggccccatgtg c.*1080
. . . . . . g.21220
gatccactctagtgctgggagccagcgctcccttactgggaacaggattccaggacccct c.*1140
. . . . . . g.21280
ttcttgttgtggctgccatgaagccacagctccttggggaagtgacctgctctcctttgg c.*1200
. . . . . . g.21340
gtgtatgcaggtgtgtggggggccctgagtggcaagttgcttagctaacaggagatccat c.*1260
. . . . . . g.21400
aggcagcctgcaggctaggaagtggcctagtgcaagatgagctgggaacaagggaggaga c.*1320
. . . . . . g.21460
gagcaggagctggggcagaggctgagccgggaggcccttgaggtgaggacacagcaggcc c.*1380
. . . . . . g.21520
caggaccatggctggggaggatatgtcagcacctggaagtggagtgcaggctgcagcgcc c.*1440
. . . . . . g.21580
cagccatgtgggccaggtgcattcactcagagtggggccacacacccatctacccagttt c.*1500
. . . . . . g.21640
ccacaagatgtggctcctgccacacccacagggcagcctcctccaaatccctcctggagg c.*1560
. . . . . . g.21700
ggcctacccagaagcctccttgaaccagtctgcaaccctgctctatgctgacccttgtca c.*1620
. . . . . . g.21760
ctgaaccctgatctagacttatatgaataaatgaaattacatgccaagggccctaaaaag c.*1680
g.21769
caaatttta c.*1689
(downstream sequence)
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