(used for variant description)
(last modified January 29, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_022773.2 in the LMF1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering LMF1 transcript NM_022773.2.
(upstream sequence)
g.15338
gcac c.-1
. . . . . . g.15398
ATGCGCCCTGACAGCCCAACAATGGCGGCGCCCGCGGAGTCGCTGAGGAGGCGGAAGACT c.60
M R P D S P T M A A P A E S L R R R K T p.20
. . . . . . g.15458
GGGTACTCGGATCCGGAGCCTGAGTCGCCGCCCGCGCCGGGGCGTGGCCCCGCAGGCTCT c.120
G Y S D P E P E S P P A P G R G P A G S p.40
. . . . . . g.15518
CCGGCCCATCTCCACACGGGCACCTTCTGGCTGACCCGGATCGTGCTCCTGAAGGCCCTA c.180
P A H L H T G T F W L T R I V L L K A L p.60
. | 02 . . . . . g.31699
GCCTTCGTGTACT | TCGTGGCATTCCTGGTGGCTTTCCATCAGAACAAGCAGCTCATCGGT c.240
A F V Y F | V A F L V A F H Q N K Q L I G p.80
. . . . . . g.31759
GACAGGGGGCTGCTTCCCTGCAGAGTGTTCCTGAAGAACTTCCAGCAGTACTTCCAGGAC c.300
D R G L L P C R V F L K N F Q Q Y F Q D p.100
. . . . . . g.31819
AGGACGAGCTGGGAAGTCTTCAGCTACATGCCCACCATCCTCTGGCTGATGGACTGGTCA c.360
R T S W E V F S Y M P T I L W L M D W S p.120
. . . . . . g.31879
GACATGAACTCCAACCTGGACTTGCTGGCTCTTCTCGGACTGGGCATCTCGTCTTTCGTA c.420
D M N S N L D L L A L L G L G I S S F V p.140
. . . . . . g.31939
CTGATCACGGGCTGCGCCAACATGCTTCTCATGGCTGCCCTGTGGGGCCTCTACATGTCC c.480
L I T G C A N M L L M A A L W G L Y M S p.160
. . | 03 . | 04 . . . g.75265
CTGGTTAATGTGGGCCATGTCTG | GTACTCTTTCG | GATGGGAGTCCCAGCTTCTGGAGACG c.540
L V N V G H V W | Y S F G | W E S Q L L E T p.180
. . . . . . g.75325
GGGTTCCTGGGGATCTTCCTGTGCCCTCTGTGGACGCTGTCAAGGCTGCCCCAGCATACC c.600
G F L G I F L C P L W T L S R L P Q H T p.200
. . . . . . g.75385
CCCACATCCCGGATTGTCCTGTGGGGCTTCCGGTGGCTGATCTTCAGGATCATGCTTGGA c.660
P T S R I V L W G F R W L I F R I M L G p.220
| 05 . . . . . . g.93303
GCA | GGCCTGATCAAGATCCGGGGGGACCGGTGCTGGCGAGACCTCACCTGCATGGACTTC c.720
A | G L I K I R G D R C W R D L T C M D F p.240
| 06 . . . . . g.106632
CACTATGAG | ACCCAGCCGATGCCCAATCCTGTGGCGTACTACCTGCACCACTCACCCTGG c.780
H Y E | T Q P M P N P V A Y Y L H H S P W p.260
. . . . . . g.106692
TGGTTCCATCGCTTCGAGACGCTCAGCAACCACTTCATCGAGCTCCTGGTGCCCTTCTTC c.840
W F H R F E T L S N H F I E L L V P F F p.280
. . . . . | 07. g.114980
CTCTTCCTCGGCCGGCGGGCGTGCATCATCCACGGGGTGCTGCAGATCCTGTTCCAG | GCC c.900
L F L G R R A C I I H G V L Q I L F Q | A p.300
. . . . . . g.115040
GTCCTCATCGTCAGCGGGAACCTCAGCTTCCTGAACTGGCTGACTATGGTGCCCAGCCTG c.960
V L I V S G N L S F L N W L T M V P S L p.320
. . . . . . g.115100
GCCTGCTTTGATGACGCCACCCTGGGATTCTTGTTCCCCTCTGGGCCAGGCAGCCTGAAG c.1020
A C F D D A T L G F L F P S G P G S L K p.340
. . . . . | 08 g.115438
GACCGAGTTCTGCAGATGCAGAGGGACATCCGAGGGGCCCGGCCCGAGCCCAGATTCG | GC c.1080
D R V L Q M Q R D I R G A R P E P R F G | p.360
. . . . . . g.115498
TCCGTGGTGCGGCGTGCAGCCAACGTCTCGCTGGGCGTCCTGCTGGCCTGGCTCAGCGTG c.1140
S V V R R A A N V S L G V L L A W L S V p.380
. . . . . . g.115558
CCCGTGGTCCTCAACTTGCTGAGCTCCAGGCAGGTCATGAACACCCACTTCAACTCTCTT c.1200
P V V L N L L S S R Q V M N T H F N S L p.400
. . . | 09 . . . g.116280
CACATCGTCAACACTTACGGGGCCTTCGGAAG | CATCACCAAGGAGCGGGCGGAGGTGATC c.1260
H I V N T Y G A F G S | I T K E R A E V I p.420
. . . . . . g.116340
CTGCAGGGCACAGCCAGCTCCAACGCCAGCGCCCCCGATGCCATGTGGGAGGACTACGAG c.1320
L Q G T A S S N A S A P D A M W E D Y E p.440
. . . . . . g.116400
TTCAAGTGCAAGCCAGGTGACCCCAGCAGACGGCCCTGCCTCATCTCCCCGTACCACTAC c.1380
F K C K P G D P S R R P C L I S P Y H Y p.460
. . . | 10 . . . g.117286
CGCCTGGACTGGCTGATGTGGTTCGCGGCCTTCCAG | ACCTACGAGCACAACGACTGGATC c.1440
R L D W L M W F A A F Q | T Y E H N D W I p.480
. . . . . . g.117346
ATCCACCTGGCTGGCAAGCTCCTGGCCAGCGACGCCGAGGCCTTGTCCCTGCTGGCACAC c.1500
I H L A G K L L A S D A E A L S L L A H p.500
. . | 11 . . . g.131643
AACCCCTTCGCGGGCAGGCCCCCGCCCAG | GTGGGTCCGAGGAGAGCACTACAGGTACAAG c.1560
N P F A G R P P P R | W V R G E H Y R Y K p.520
. . . . . . g.131703
TTCAGCCGTCCTGGGGGCAGGCACGCCGCCGAGGGCAAGTGGTGGGTGCGGAAGAGGATC c.1620
F S R P G G R H A A E G K W W V R K R I p.540
. . . . . . g.131763
GGAGCCTACTTCCCTCCGCTCAGCCTGGAGGAGCTGAGGCCCTACTTCAGGGACCGTGGG c.1680
G A Y F P P L S L E E L R P Y F R D R G p.560
. . g.131787
TGGCCTCTGCCCGGGCCCCTCTAG c.1704
W P L P G P L X p.567
. . . . . . g.131847
acgtgcaccagaaataaaggcgaagacccagcccctcggcggctcagcaacgtttgccct c.*60
. . . . . . g.131907
tccctgcgcccagcccaagctgggcatcgccaagagagacgtggagaggagagcggtggg c.*120
. . . . . . g.131967
acccagcccccagcacgggggtccagggtggggtctgttgtcacatactgtggcggctcc c.*180
. . . . . . g.132027
caggccctgcccacctggggccccacatccaggccaacccttgtcccaggcgccaggggc c.*240
. . . . . . g.132087
tctgatctcccatccatcccaccctcctcccagaggcccagcctggggctgtgccgccca c.*300
. . . . . . g.132147
caggagttgagacaatggccatcctgacaccttcctccactacagccctgaccatagacc c.*360
. . . . . . g.132207
cagccaggtagctcttggggtctctagcgtcccagggcctggtttctgttccctcttcaa c.*420
. . . . . . g.132267
tggtgtgttcccagccaggtcctgaccctcagagccaagtccctgtcacgtctggggcag c.*480
. . . . . . g.132327
ccaaaccctcgccccacagggacctggacacgcccggccaggatgtggggttggatgggc c.*540
. . . . . . g.132387
cattttctgtcctatccctcatctccacccccgccacagcctacacgcatcccacacatg c.*600
. . . . . . g.132447
caggcacacacagcctgtgcacacatgtgttcttggcccggtttcatccccccatgactg c.*660
. . . . . . g.132507
gtgtctgtgaggtgcagatggacacagcgcacacccagaccctccaccaggctgtgacct c.*720
. . . . . . g.132567
cgctgcctctgaggccttgacaaggcccctcaatcggaggacagccggccgtgcacactt c.*780
. . . . . . g.132627
tcatcatcgtcggacaaacagcgtctactgcacatttttcttattcctattcttgagcca c.*840
. . . . . g.132685
tagctatggcatattcttctactattcctattataccacttaccagcttactcgaaaa c.*898
(downstream sequence)
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