(used for variant description)
(last modified December 18, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_015340.3 in the LARS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering LARS2 transcript NM_015340.3.
(upstream sequence)
g.5005
tgaca c.-181
. . . . . . g.5065
acatggcggcgcccatggtccgtggcccggcagtgctcgcctaaaggtggagaacgagga c.-121
. . . . | 02 . . g.8027
gtagaggagccgcaggccagagcctgtgagcag | atccagacctacagataaaaaacatta c.-61
. . . . | 03 . g.10871
tttaatctatctgggatttactccggcttatgatttgag | ggccttctcaccttctgaaga c.-1
. . . . . . g.10931
ATGGCTTCTGTTTGGCAGAGATTGGGTTTTTATGCCTCTCTTCTGAAAAGACAGCTAAAT c.60
M A S V W Q R L G F Y A S L L K R Q L N p.20
. . . . . . g.10991
GGTGGGCCAGATGTCATCAAGTGGGAAAGGAGAGTAATTCCCGGATGTACCAGAAGCATC c.120
G G P D V I K W E R R V I P G C T R S I p.40
. . . . . . g.11051
TACAGTGCCACGGGAAAGTGGACAAAAGAGTATACATTGCAGACAAGAAAGGATGTTGAG c.180
Y S A T G K W T K E Y T L Q T R K D V E p.60
. . . . . | 04 . g.16668
AAATGGTGGCATCAACGAATAAAAGAACAGGCCTCCAAAATTTCAGAAGCTGAT | AAATCG c.240
K W W H Q R I K E Q A S K I S E A D | K S p.80
. . . . . . g.16728
AAGCCAAAATTTTACGTGCTTTCCATGTTCCCTTATCCTTCTGGTAAGCTGCACATGGGC c.300
K P K F Y V L S M F P Y P S G K L H M G p.100
. . . . . . g.16788
CATGTGCGTGTCTACACCATCAGCGACACCATAGCACGGTTCCAGAAGATGAGAGGGATG c.360
H V R V Y T I S D T I A R F Q K M R G M p.120
| 05 . . . . . . g.33956
CAG | GTCATCAACCCCATGGGATGGGATGCTTTTGGATTGCCTGCTGAAAATGCCGCAGTC c.420
Q | V I N P M G W D A F G L P A E N A A V p.140
. . . | 06 . . . g.36111
GAGAGGAATCTACATCCACAAAGTTGGACACAAAG | TAATATTAAACACATGAGGAAACAG c.480
E R N L H P Q S W T Q S | N I K H M R K Q p.160
. . . | 07 . . . g.63332
CTTGATCGTCTGGGCCTGTGTTTCAGCTGGGATAGG | GAAATAACTACGTGTTTGCCAGAT c.540
L D R L G L C F S W D R | E I T T C L P D p.180
. . . . . . g.63392
TACTACAAGTGGACTCAGTATCTCTTTATTAAACTGTATGAGGCTGGGCTGGCCTATCAA c.600
Y Y K W T Q Y L F I K L Y E A G L A Y Q p.200
| 08 . . . . . . g.75214
AAGGAG | GCCCTGGTTAACTGGGACCCAGTGGATCAAACAGTGCTTGCCAATGAGCAGGTG c.660
K E | A L V N W D P V D Q T V L A N E Q V p.220
. . . . . . g.75274
GATGAACATGGCTGTTCATGGCGTTCTGGAGCAAAGGTGGAACAGAAGTACCTCAGACAA c.720
D E H G C S W R S G A K V E Q K Y L R Q p.240
. . . | 09 . . . g.90690
TGGTTTATTAAGACAACCGCTTATGCAAAG | GCCATGCAGGACGCGTTGGCAGACCTTCCA c.780
W F I K T T A Y A K | A M Q D A L A D L P p.260
. . . . . . g.90750
GAATGGTATGGAATAAAAGGCATGCAAGCCCACTGGATTGGGGACTGTGTGGGCTGCCAC c.840
E W Y G I K G M Q A H W I G D C V G C H p.280
. | 10 . . . . g.92927
CTGGACTTCACATTAAAG | GTTCATGGGCAAGCCACGGGCGAAAAGCTGACTGCCTATACG c.900
L D F T L K | V H G Q A T G E K L T A Y T p.300
. . . . . . g.92987
GCCACCCCTGAAGCCATTTATGGCACCTCCCACGTGGCCATCTCGCCCAGCCACAGACTC c.960
A T P E A I Y G T S H V A I S P S H R L p.320
. . . . . | 11 g.102111
CTACATGGGCACAGCTCTCTGAAGGAAGCCTTGAGGATGGCCCTTGTCCCTGGCAAAG | AT c.1020
L H G H S S L K E A L R M A L V P G K D | p.340
. . . . . . g.102171
TGCCTCACGCCTGTAATGGCTGTGAACATGCTTACCCAGCAGGAGGTCCCTGTCGTTATT c.1080
C L T P V M A V N M L T Q Q E V P V V I p.360
. . . . | 12 . . g.105131
TTGGCCAAAGCTGACTTGGAAGGCTCTCTGGATTCAAAAATAG | GAATTCCCAGTACTAGC c.1140
L A K A D L E G S L D S K I G | I P S T S p.380
. . . . . . g.105191
TCAGAGGACACCATCTTAGCCCAAACCCTGGGCCTGGCCTACTCTGAAGTCATTGAAACT c.1200
S E D T I L A Q T L G L A Y S E V I E T p.400
. . . | 13 . . g.107955
TTGCCAGATGGCACAGAGAGACTGAGCAGCTCTGCTGAG | TTCACAGGTATGACCCGGCAG c.1260
L P D G T E R L S S S A E | F T G M T R Q p.420
. . . . . . g.108015
GATGCTTTTCTAGCCCTGACTCAGAAAGCCCGGGGGAAGAGAGTGGGTGGAGACGTGACA c.1320
D A F L A L T Q K A R G K R V G G D V T p.440
. . . . . . g.108075
AGTGATAAACTGAAAGACTGGCTGATTTCACGGCAGCGGTACTGGGGCACACCAATCCCC c.1380
S D K L K D W L I S R Q R Y W G T P I P p.460
. . . . . . g.108135
ATTGTCCACTGCCCAGTCTGTGGCCCCACACCTGTGCCCCTGGAGGACTTGCCTGTGACC c.1440
I V H C P V C G P T P V P L E D L P V T p.480
. . . . . . g.108195
CTGCCCAACATCGCGTCTTTCACTGGCAAGGGAGGCCCCCCACTGGCCATGGCTTCAGAG c.1500
L P N I A S F T G K G G P P L A M A S E p.500
. . | 14 . . . . g.112729
TGGGTGAACTGCTCCTGCCCAAG | GTGCAAGGGAGCAGCCAAGAGAGAGACAGACACGATG c.1560
W V N C S C P R | C K G A A K R E T D T M p.520
. . . . . . g.112789
GATACCTTTGTTGATTCTGCTTGGTACTACTTCAGATACACTGACCCTCATAATCCACAC c.1620
D T F V D S A W Y Y F R Y T D P H N P H p.540
| 15 . . . . . . g.116917
AG | CCCTTTTAACACAGCAGTGGCCGATTACTGGATGCCTGTGGATTTGTACATTGGAGGG c.1680
S | P F N T A V A D Y W M P V D L Y I G G p.560
. . . . . . g.116977
AAAGAACATGCCGTCATGCACTTGTTCTATGCAAGATTCTTTAGTCATTTTTGCCATGAT c.1740
K E H A V M H L F Y A R F F S H F C H D p.580
. . | 16 . . . . g.129592
CAAAAAATGGTTAAACATAG | GGAGCCTTTTCATAAGCTGCTGGCCCAAGGCCTTATCAAG c.1800
Q K M V K H R | E P F H K L L A Q G L I K p.600
. . . . . . g.129652
GGGCAGACATTCCGCCTACCATCTGGACAGTATCTACAGAGAGAGGAAGTGGATCTCACA c.1860
G Q T F R L P S G Q Y L Q R E E V D L T p.620
| 17 . . . . . . g.132570
G | GTTCCGTTCCTGTTCATGCAAAAACGAAAGAGAAGTTAGAGGTGACGTGGGAGAAGATG c.1920
G | S V P V H A K T K E K L E V T W E K M p.640
. . . . . . g.132630
AGTAAGTCCAAACACAACGGGGTGGACCCAGAGGAAGTTGTGGAGCAGTATGGGATCGAC c.1980
S K S K H N G V D P E E V V E Q Y G I D p.660
. . . . . . g.132690
ACGATTCGGCTCTACATCCTTTTTGCTGCCCCTCCTGAGAAGGATATCTTGTGGGATGTG c.2040
T I R L Y I L F A A P P E K D I L W D V p.680
| 18 . . . . . . g.134376
AAAA | CTGATGCTCTCCCTGGGGTGCTGAGATGGCAACAACGACTGTGGACCTTGACAACT c.2100
K T | D A L P G V L R W Q Q R L W T L T T p.700
. . . . . . g.134436
CGGTTTATTGAGGCCAGGGCTTCTGGGAAGTCTCCCCAGCCTCAGCTGCTGAGTAACAAG c.2160
R F I E A R A S G K S P Q P Q L L S N K p.720
. . . . . | 19 . g.136642
GAGAAAGCTGAGGCCAGGAAGCTCTGGGAGTACAAGAACTCCGTCATCTCTCAG | GTGACC c.2220
E K A E A R K L W E Y K N S V I S Q | V T p.740
. . . . . . g.136702
ACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGC c.2280
T H F T E D F S L N S A I S Q L M G L S p.760
. | 20 . . . . . g.140462
AATGCCCTCTCG | CAAGCCTCTCAGAGCGTCATTCTCCACAGCCCCGAGTTTGAGGATGCT c.2340
N A L S | Q A S Q S V I L H S P E F E D A p.780
. . . . . . g.140522
TTGTGTGCCCTGATGGTAATGGCTGCTCCACTGGCCCCTCATGTAACCTCAGAGATCTGG c.2400
L C A L M V M A A P L A P H V T S E I W p.800
| 21 . . . . . . g.158302
GCAG | GCCTGGCGCTGGTGCCGAGGAAGCTCTGTGCCCACTACACTTGGGATGCCAGTGTG c.2460
A G | L A L V P R K L C A H Y T W D A S V p.820
. . . . . . g.158362
CTGCTCCAGGCATGGCCTGCTGTGGACCCGGAGTTCCTGCAGCAGCCTGAGGTTGTCCAG c.2520
L L Q A W P A V D P E F L Q Q P E V V Q p.840
. | 22 . . . . . g.163816
ATGGCAGTTCTG | ATCAACAATAAAGCTTGTGGCAAAATTCCTGTGCCCCAACAAGTTGCC c.2580
M A V L | I N N K A C G K I P V P Q Q V A p.860
. . . . . . g.163876
CGGGACCAGGACAAAGTCCACGAATTTGTTCTTCAAAGCGAGCTGGGTGTCAGGCTTTTG c.2640
R D Q D K V H E F V L Q S E L G V R L L p.880
. . . . . . g.163936
CAAGGACGAAGCATCAAGAAGTCCTTCCTTTCCCCGAGAACTGCCCTCATCAACTTCCTG c.2700
Q G R S I K K S F L S P R T A L I N F L p.900
. g.163948
GTGCAAGATTGA c.2712
V Q D X p.903
. . . . . . g.164008
cagccaggaggctgcagctaccacgagggcctctgaggaacctccttccaggcctgggat c.*60
. . . . . . g.164068
gagggggcgatgtctgctggcccaggggaagggaaaagacaaatgtcttgactgttgacc c.*120
. . . . . . g.164128
tcggtcctgtggcagactgcagtcaacagtgtgcctctgtagtgtggcctggtgctgggg c.*180
. . . . . . g.164188
tgaaggtgagctgggcaaaggagaaatatgagctactgaggagggggttggacatcctgc c.*240
. . . . . . g.164248
ccctcaccccccacccacactgcaggtagaggaggccatctgatcccatgggaagccatc c.*300
. . . . . . g.164308
agagacactgctggtgggagcaggaaggagcagtgcccctcgagcagccaggaagcctgc c.*360
. . . . . . g.164368
ggatctgggaaatggctctgccttaggcacttctcgggaatttgaggccagcctgaggaa c.*420
. . . . . . g.164428
ctgcaggactcaggtgcaatgtgccagccacttggaactgctaactgagcctccagatgg c.*480
. . . . . . g.164488
tagtgaatggtctctttgccttcaggctggatgaggaagtcatttaggaaatgttcaaat c.*540
. . . . . . g.164548
aaccaatatgtggaaatggacacagggatcttctgaagttgctttgaatcaaaaggcagg c.*600
. . . . . . g.164608
cagtgctggttcctctgcctgtgtccccaccactccccagctctgtcatgcaggcctgtc c.*660
. . . . . . g.164668
ctccccaaccccagctggatgtgcctcccaggcctgctgtggttctgacacacaggatcc c.*720
. . . . . . g.164728
caggcaaggcaccacttcctcacatgaatgaggagcagcaagtcataaccactcccttgg c.*780
. . . . . . g.164788
gtatacaatttgctgtgtagtgaagtggaaccaggctcaggctgctggtcccaacctcag c.*840
. . . . . . g.164848
agccccaccgcagcccagtagggatgcagcacgccccagagggctcatgtgggccccaga c.*900
. . . . . . g.164908
tggcaatgccaccattgttgatgtgactccagagccagttattaggaagagcaagctcac c.*960
. . . . . . g.164968
cacagaggagtggaactgaggccccccagatgttgcctccggtgtccaagccacagcggt c.*1020
. . . . . . g.165028
ctggctgttgggaagatggccaggaatggactcataccattggcacattaggctaatcct c.*1080
. . . . . . g.165088
ggttttatgtgaagtcagcaattaagtgttcccactagaactgacctaagccactgatta c.*1140
. . . . . . g.165148
atatttaatgagggaaggtaggggagaatctagccattttataatgccagaaatctatat c.*1200
. . . . . . g.165208
atgttatctgatgccatttttctgaagtagcctcacatgtggtccccctgcagttcagca c.*1260
. . . . g.165254
gttaacagatgacttttttagtgtaataaaatgtttatcatctatg c.*1306
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 14c
©2004-2015 Leiden University Medical Center