(used for variant description)
(last modified May 9, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000382.2 in the ALDH3A2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007095.2, covering ALDH3A2 transcript NM_000382.2.
(upstream sequence)
. . . . g.5041
agtcctcccccggcgcctccgactggcagtgggactcagcg c.-181
. . . . . . g.5101
ggcgtggaggtcgcggctgagcgagcgagccctgggcgagtgaattgtggctgtgggttg c.-121
. . . . . . g.5161
acggtggagacaccccccggagggaggcggagggaagggaggcgaggcctgcacctgcat c.-61
. . . . . . g.5221
gcttcccgcctcccactccccagcgcccccggaccgtgcagttctctgcaggaccaggcc c.-1
. . . . . . g.5281
ATGGAGCTCGAAGTCCGGCGGGTCCGACAGGCGTTCCTGTCCGGCCGGTCGCGACCTCTG c.60
M E L E V R R V R Q A F L S G R S R P L p.20
. . . . . . g.5341
CGGTTTCGGCTGCAGCAGCTGGAGGCCCTGCGGAGGATGGTGCAGGAGCGCGAGAAGGAT c.120
R F R L Q Q L E A L R R M V Q E R E K D p.40
. . . | 02 . . . g.7823
ATCCTGACGGCCATCGCCGCCGACCTGTGCAAG | AGTGAATTCAATGTGTACAGTCAGGAA c.180
I L T A I A A D L C K | S E F N V Y S Q E p.60
. . . . . . g.7883
GTCATTACTGTCCTTGGGGAAATTGATTTTATGCTTGAGAATCTTCCTGAATGGGTTACT c.240
V I T V L G E I D F M L E N L P E W V T p.80
. . . . . . g.7943
GCTAAACCAGTTAAGAAGAACGTGCTCACCATGCTGGATGAGGCCTATATTCAGCCACAG c.300
A K P V K K N V L T M L D E A Y I Q P Q p.100
. . . . . . g.8003
CCTCTGGGAGTGGTGCTGATAATCGGAGCTTGGAATTACCCCTTCGTTCTCACCATTCAG c.360
P L G V V L I I G A W N Y P F V L T I Q p.120
. . | 03 . . . . g.8831
CCACTGATAGGAGCCATCGCTGCAG | GAAATGCTGTGATTATAAAGCCTTCTGAACTGAGT c.420
P L I G A I A A G | N A V I I K P S E L S p.140
. . . . . | 04 . g.12624
GAAAATACAGCCAAGATCTTGGCAAAGCTTCTCCCTCAGTATTTAGACCAG | GATCTCTAT c.480
E N T A K I L A K L L P Q Y L D Q | D L Y p.160
. . . . . . g.12684
ATTGTTATTAATGGTGGTGTTGAGGAAACCACGGAGCTCCTGAAGCAGCGATTTGACCAC c.540
I V I N G G V E E T T E L L K Q R F D H p.180
. . . . . . g.12744
ATTTTCTATACGGGAAACACTGCGGTTGGCAAAATTGTCATGGAAGCTGCTGCCAAGCAT c.600
I F Y T G N T A V G K I V M E A A A K H p.200
. . . . . . g.12804
CTGACCCCTGTGACTCTTGAACTGGGAGGGAAAAGTCCATGTTATATTGATAAAGATTGT c.660
L T P V T L E L G G K S P C Y I D K D C p.220
. . | 05 . . . . g.14034
GACCTGGACATTGTTTGCAG | ACGCATAACCTGGGGAAAATACATGAATTGTGGCCAAACC c.720
D L D I V C R | R I T W G K Y M N C G Q T p.240
. . . . . . g.14094
TGCATTGCACCCGACTATATTCTCTGTGAAGCATCCCTCCAAAATCAAATTGTATGGAAG c.780
C I A P D Y I L C E A S L Q N Q I V W K p.260
. | 06 . . . . g.17418
ATTAAGGAAACAGTGAAG | GAATTTTATGGAGAAAATATAAAAGAGTCTCCTGATTATGAA c.840
I K E T V K | E F Y G E N I K E S P D Y E p.280
. . . . . . g.17478
AGGATCATCAATCTTCGTCATTTTAAGAGGATACTAAGTTTGCTTGAAGGACAAAAGATA c.900
R I I N L R H F K R I L S L L E G Q K I p.300
. . . . | 07 . . g.19602
GCTTTTGGTGGGGAGACTGATGAGGCCACACGCTACATAG | CCCCAACAGTACTTACCGAT c.960
A F G G E T D E A T R Y I A | P T V L T D p.320
. . . . . . g.19662
GTTGATCCTAAAACCAAGGTGATGCAAGAAGAAATTTTTGGACCAATTCTTCCAATAGTG c.1020
V D P K T K V M Q E E I F G P I L P I V p.340
. . . . . . g.19722
CCTGTGAAAAATGTAGATGAGGCCATAAATTTCATAAATGAACGTGAAAAGCCTCTGGCT c.1080
P V K N V D E A I N F I N E R E K P L A p.360
. . | 08. . . . g.21230
CTTTATGTATTTTCGCATAACCATAAG | CTCATCAAACGGATGATTGATGAGACATCCAGT c.1140
L Y V F S H N H K | L I K R M I D E T S S p.380
. . . . . . g.21290
GGAGGTGTCACAGGCAATGACGTCATTATGCACTTCACGCTCAACTCTTTCCCATTTGGA c.1200
G G V T G N D V I M H F T L N S F P F G p.400
| 09. . . . . . g.28023
GGAGTGG | GTTCCAGTGGGATGGGAGCTTATCACGGAAAACATAGTTTTGATACTTTTTCT c.1260
G V G | S S G M G A Y H G K H S F D T F S p.420
. . . . . . g.28083
CATCAGCGTCCCTGTTTATTAAAAAGTTTAAAGAGAGAAGGTGCTAACAAACTCAGATAT c.1320
H Q R P C L L K S L K R E G A N K L R Y p.440
. . . . . . g.28143
CCTCCCAACAGCCAGTCAAAGGTGGATTGGGGAAAATTTTTTCTCTTGAAACGGTTCAAC c.1380
P P N S Q S K V D W G K F F L L K R F N p.460
. . . . . . g.28203
AAAGAAAAACTCGGTCTCCTGTTGCTCACTTTCCTGGGTATTGTAGCCGCTGTGCTTGTC c.1440
K E K L G L L L L T F L G I V A A V L V p.480
| 10 . g.31864
AAG | GCAGAATATTACTGA c.1458
K | A E Y Y X p.485
. . . . . . g.31924
agaatgatcctgttcaacctcctagtgcctctactgaattattcctcttttaaatggtta c.*60
. . . . . . g.31984
atgaaccaataatttttaaatcataccaaaaatagtaagaaaatatgcaaacactctgtg c.*120
. . . . . . g.32044
atcaaacttaaaagtcattgccattcatcattaataaaagttgccatttcaactacgtcc c.*180
. . . . . . g.32104
caacattccctaatagggtattcagggaacctgtcttaaattgtgcttatctaaatcttg c.*240
. . . . . . g.32164
gaactttgagctaggggaggagaatgtattagactaaatacaaactgcggggttgtaagg c.*300
. . . . . . g.32224
gagtctcagaacctcactgaatccttcactccagttaatggcactgctcacttcctgcct c.*360
. . . . . . g.32284
ctgctgccaccatcactgtgtgaagctttcaagagcttggtacttcccagggctaccggc c.*420
. . . . . . g.32344
agtcctctgtagtccagagaggtgagattagatcttcttggttccctgtgaggtttcagg c.*480
. . . . . . g.32404
cactaaaactctatgtggggaagggaggggttactcctcctccaatgggactcaaggact c.*540
. . . . . . g.32464
tgacctccaggagtaggcccctggtcagaagtgccatctcaccagtggtcttcattcttc c.*600
. . . . . . g.32524
ctcattcattctttatcatcctgtgttctgtttagttgcaacaatctcttgtgactaatg c.*660
. . . . . . g.32584
tcactcaaagcatcttgtaaatcctagggcttcctggaagttagttgccaaagtcatgca c.*720
. . . . . . g.32644
agcatcacctgtcattcttgtgttggagttatagaattctacatcttataaaacctaact c.*780
. . . . . . g.32704
ggcatttaaaaaatactgtggccgggcgtggtggctcatgcctgtaatcccagcactttg c.*840
. . . . . . g.32764
ggaggccgaggtgggaggattgcttgagtccaggaatttgagaccagcctggacaacaca c.*900
. . . . . . g.32824
gtgagacctcatctctatcaaaaaataaaaattagctagatgtggtggcatgagcctgtg c.*960
. . . . . . g.32884
ttcccagctgcttaggaggctgaagcaggaggattgattgagcctgcgaggccaaggctg c.*1020
. . . . . . g.32944
cagcaggctgtgattgcaccactgcacttcagcttgggcaacagagcaagaccctgtctc c.*1080
. . . . . . g.33004
cgaaacaaataaaaaatactgtaataaaagtacttataaacatactaatcctctttcagg c.*1140
. . . . . . g.33064
accctaaagttgcaggttagtaggtcttcaaggacaaatctgtaagtttcttatttctgt c.*1200
. . . . . . g.33124
agtgcaagtaaaatttcactttttgaaactatagagagatccctttctgattagcctaca c.*1260
. . . . . . g.33184
gaacttaaagtgagggaaccatttcctctcacagacaaagaggcctgggatattaggact c.*1320
. . . . . . g.33244
ttggggtttgagagcatcatggggcagacagatggtggatggtctggacaagaagcgagt c.*1380
. . . . . . g.33304
aagccactgcggttggtcatactgaagggaattgatggcaagaggatcccctgagcaagt c.*1440
. . . . . . g.33364
cagaagttactctcatcagtcgttcatggtcacaacctgaggtactctgctgagtgggca c.*1500
. . . . . . g.33424
aggctgaagaagaggcctgtggaatgcagcattacctgctggacagagcagggcaggcag c.*1560
. . . . . . g.33484
ttctatgccttggagctcctgactgcagggactctgtccccacactcaaaaagactcagc c.*1620
. . . . . . g.33544
tcactcaatgagagaatgtgatttactttatagaacgtataatcaactttgttgaataat c.*1680
. . . . . . g.33604
ttgttctattaaggctgtctaaagtatgtgatgtcttcatcatagtatgaagtgttgaaa c.*1740
. . . . . . g.33664
attaataacgagcctagtttaggaaaaagctgcttaaaactgtggctctaagagagtaat c.*1800
. . . . . . g.33724
cataaaataccttagataaaattgcactatggaattttcattgagtatgtttaaattatt c.*1860
. . . . . . g.33784
ggcttgtctactaatacacatctgcttcaaaatgaacatatttcataaaattggcatcaa c.*1920
. . . . . . g.33844
ttttaatgacgctcctggtatggaacctcagatataccctattggagacaatcctttgat c.*1980
. . . . g.33887
cataaattctccccaactataaatcattttatgtctttatcat c.*2023
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 15
©2004-2016 Leiden University Medical Center