(used for variant description)
(last modified May 18, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000047.2 in the ARSE gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007091.1, covering ARSE transcript NM_000047.2.
(upstream sequence)
. g.4827
ttggtagacg c.-241
. . . . . . g.4887
tgggcgtggctttgagattcccccatgctgcgatgtggggggagtctgctctgtctgtcc c.-181
. . . . . . g.4947
taactctctctgatcttctgacttgggaaaaacaaactcgaagttaatcattcccagctc c.-121
. . . . . . g.5007
aaagccttgtgcaagtgctctctgccttcacgcttgcttcctttgggagagaaccttcct c.-61
. . . . | 02 . g.8870
cttcttgatcggggattcaggaaggagcccaggagcagag | gaagtagagagagagacaac c.-1
. . | 03 . . . . g.10872
ATGTTACATCTGCACCATTCTTG | TTTGTGTTTCAGGAGCTGGCTGCCAGCGATGCTCGCT c.60
M L H L H H S C | L C F R S W L P A M L A p.20
. . . . . . g.10932
GTACTGCTAAGTTTGGCACCATCAGCTTCCAGCGACATTTCCGCCTCCCGACCGAACATC c.120
V L L S L A P S A S S D I S A S R P N I p.40
. . . . . . g.10992
CTTCTTCTGATGGCGGACGACCTTGGCATTGGGGACATTGGCTGCTATGGCAACAACACC c.180
L L L M A D D L G I G D I G C Y G N N T p.60
| 04 . . . . . . g.13788
ATGAG | GACTCCGAATATTGACCGCCTTGCAGAGGACGGCGTGAAGCTGACCCAACACATC c.240
M R | T P N I D R L A E D G V K L T Q H I p.80
. . . . . . g.13848
TCTGCCGCATCTTTGTGCACCCCAAGCAGAGCCGCCTTCCTCACGGGCAGATACCCTGTG c.300
S A A S L C T P S R A A F L T G R Y P V p.100
| 05. . . . . . g.16058
CGATCAG | GGATGGTTTCCAGCATTGGTTACCGTGTTCTTCAGTGGACCGGAGCATCTGGA c.360
R S G | M V S S I G Y R V L Q W T G A S G p.120
. . . . . . g.16118
GGTCTTCCAACAAATGAGACAACTTTTGCAAAAATACTGAAAGAGAAAGGCTATGCCACT c.420
G L P T N E T T F A K I L K E K G Y A T p.140
. | 06 . . . . . g.19593
GGACTCATTG | GAAAATGGCATCTGGGTCTCAACTGTGAGTCAGCCAGTGATCATTGCCAC c.480
G L I G | K W H L G L N C E S A S D H C H p.160
. . . . . . g.19653
CACCCTCTCCATCATGGCTTTGACCATTTCTACGGAATGCCTTTCTCCTTGATGGGTGAT c.540
H P L H H G F D H F Y G M P F S L M G D p.180
. . . . . . g.19713
TGCGCCCGCTGGGAACTCTCAGAGAAGCGTGTCAACCTGGAACAAAAACTCAACTTCCTC c.600
C A R W E L S E K R V N L E Q K L N F L p.200
. . . . . . g.19773
TTCCAAGTCCTGGCCTTGGTTGCCCTCACACTGGTAGCAGGGAAGCTCACACACCTGATA c.660
F Q V L A L V A L T L V A G K L T H L I p.220
. . . . . . g.19833
CCCGTCTCGTGGATGCCGGTCATCTGGTCAGCCCTTTCGGCCGTCCTCCTCCTCGCAAGC c.720
P V S W M P V I W S A L S A V L L L A S p.240
. . . . . . g.19893
TCCTATTTTGTGGGTGCTCTGATTGTCCATGCCGATTGCTTTCTGATGAGAAACCACACC c.780
S Y F V G A L I V H A D C F L M R N H T p.260
. . . . . . g.19953
ATCACGGAGCAGCCCATGTGCTTCCAAAGAACGACACCCCTTATTCTGCAGGAGGTTGCG c.840
I T E Q P M C F Q R T T P L I L Q E V A p.280
. | 07 . . . . . g.23182
TCCTTTCTCAAAAG | GAATAAGCATGGGCCTTTCCTCCTCTTTGTTTCCTTTCTACACGTT c.900
S F L K R | N K H G P F L L F V S F L H V p.300
. . . . . . g.23242
CACATCCCTCTTATCACTATGGAGAACTTCCTCGGGAAGAGTCTCCACGGGCTGTATGGG c.960
H I P L I T M E N F L G K S L H G L Y G p.320
. . . | 08 . . . g.26100
GACAACGTAGAGGAGATGGACTGGATGGTAG | GACGGATCCTTGACACTTTGGACGTGGAG c.1020
D N V E E M D W M V G | R I L D T L D V E p.340
. . . . . . g.26160
GGTTTGAGCAACAGCACCCTCATTTATTTTACGTCGGATCACGGCGGTTCCCTAGAGAAT c.1080
G L S N S T L I Y F T S D H G G S L E N p.360
. . . . | 09 . . g.31027
CAACTTGGAAACACCCAGTATGGTGGCTGGAATGGAATTTATAAAG | GTGGGAAGGGCATG c.1140
Q L G N T Q Y G G W N G I Y K G | G K G M p.380
. . . . . . g.31087
GGAGGATGGGAAGGTGGGATCCGCGTGCCCGGGATCTTCCGCTGGCCCGGGGTGCTCCCG c.1200
G G W E G G I R V P G I F R W P G V L P p.400
. . . . . . g.31147
GCCGGCCGAGTGATTGGCGAGCCCACGAGTCTGATGGACGTGTTCCCCACCGTGGTCCGG c.1260
A G R V I G E P T S L M D V F P T V V R p.420
. . | 10 . . . g.32438
CTGGCGGGCGGCGAGGTGCCCCAGGACAG | AGTGATTGACGGCCAAGACCTTCTGCCCTTG c.1320
L A G G E V P Q D R | V I D G Q D L L P L p.440
. . . . . . g.32498
CTCCTGGGGACAGCCCAACACTCAGACCACGAGTTCCTGATGCATTATTGTGAGAGGTTT c.1380
L L G T A Q H S D H E F L M H Y C E R F p.460
. . . | 11 . . . g.34109
CTGCACGCAGCCAGGTGGCATCAACGGGACA | GAGGAACAATGTGGAAAGTCCACTTTGTG c.1440
L H A A R W H Q R D R | G T M W K V H F V p.480
. . . . . . g.34169
ACGCCTGTGTTCCAGCCAGAGGGAGCCGGTGCCTGCTATGGAAGAAAGGTCTGCCCGTGC c.1500
T P V F Q P E G A G A C Y G R K V C P C p.500
. . . . . . g.34229
TTTGGGGAAAAAGTAGTCCACCACGATCCACCTTTGCTCTTTGACCTCTCAAGAGACCCT c.1560
F G E K V V H H D P P L L F D L S R D P p.520
. . . . . . g.34289
TCTGAGACCCACATCCTCACACCAGCCTCAGAGCCCGTGTTCTATCAGGTGATGGAACGA c.1620
S E T H I L T P A S E P V F Y Q V M E R p.540
. . . . . . g.34349
GTCCAGCAGGCGGTGTGGGAACACCAGCGGACACTCAGCCCAGTTCCTCTGCAGCTGGAC c.1680
V Q Q A V W E H Q R T L S P V P L Q L D p.560
. . . . . . g.34409
AGGCTGGGCAACATCTGGAGACCGTGGCTGCAGCCCTGCTGTGGCCCGTTCCCCCTCTGC c.1740
R L G N I W R P W L Q P C C G P F P L C p.580
. . . g.34439
TGGTGCCTTAGGGAAGATGACCCACAATAA c.1770
W C L R E D D P Q X p.589
. . . . . . g.34499
atgtctgcagtgaaaagctggagccccgattcctaaattttgtcactcaaattgaaacaa c.*60
. . . . . . g.34559
accagctggccatggtggttgtcatcccagcactttaggaggccaccacaggaggatcac c.*120
. . . . . . g.34619
tcccgtgatcaaaaccaacctgggcaacatgatgaaactctagctctacaaaacaaaaat c.*180
. . g.34639
aaaaaaaaaattagcctgca c.*200
(downstream sequence)
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