(used for variant description)
(last modified July 15, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_001042472.2 in the ABHD12 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028119.1, covering ABHD12 transcript NM_001042472.2.
(upstream sequence)
. . . g.5039
ccagggatgctgggcgcgcgctccttggaactagagagg c.-241
. . . . . . g.5099
aggtggccggggcggggccgggggaggggggtagggcagagccggcgggagcccggcgct c.-181
. . . . . . g.5159
gattggccggcctggctggcgggcccccgccgctggttcgtagccggcgcagcggcctgg c.-121
. . . . . . g.5219
gctgggatgtgaggagcggcgggttccgggctccgggctctgggtggcggcggctgtgag c.-61
. . . . . . g.5279
cggcggcactgcggcgcaggccagcgggcgccgtcggcggctggccctgtcggccgcggg c.-1
. . . . . . g.5339
ATGAGGAAGCGGACCGAGCCCGTCGCCTTGGAGCATGAGCGCTGCGCCGCCGCGGGCTCG c.60
M R K R T E P V A L E H E R C A A A G S p.20
. . . . . . g.5399
TCCTCCTCCGGCTCGGCCGCCGCGGCGCTGGACGCCGACTGCCGCCTGAAGCAGAACCTA c.120
S S S G S A A A A L D A D C R L K Q N L p.40
. . . . . . g.5459
CGCCTGACGGGCCCGGCGGCGGCTGAGCCGCGCTGCGCAGCCGACGCGGGAATGAAGCGG c.180
R L T G P A A A E P R C A A D A G M K R p.60
. | 02 . . . . . g.56680
GCGCTGGGCAG | GCGAAAGGGCGTGTGGTTGCGCCTGAGGAAGATACTTTTCTGTGTTTTG c.240
A L G R | R K G V W L R L R K I L F C V L p.80
. . . . . . g.56740
GGGTTGTACATTGCCATTCCATTTCTCATCAAACTATGTCCTGGAATACAGGCCAAACTG c.300
G L Y I A I P F L I K L C P G I Q A K L p.100
. | 03 . . . . . g.72596
ATTTTCTTGAATTTCG | TAAGAGTTCCCTATTTCATTGATTTGAAAAAACCACAGGATCAA c.360
I F L N F V | R V P Y F I D L K K P Q D Q p.120
. . . . . . g.72656
GGTTTGAATCACACGTGTAACTACTACCTGCAGCCAGAGGAAGACGTGACCATTGGAGTC c.420
G L N H T C N Y Y L Q P E E D V T I G V p.140
| 04 . . . . . . g.75722
TG | GCACACCGTCCCTGCAGTCTGGTGGAAGAACGCCCAAGGCAAAGACCAGATGTGGTAT c.480
W | H T V P A V W W K N A Q G K D Q M W Y p.160
. . . . . . g.75782
GAGGATGCCTTGGCTTCCAGCCACCCTATCATTCTGTACCTGCATGGGAACGCAGGTACC c.540
E D A L A S S H P I I L Y L H G N A G T p.180
| 05 . . . | 06 . . . g.81039
AG | AGGAGGCGACCACCGCGTGGAGCTTTACAAG | GTGCTGAGTTCCCTTGGTTACCATGTG c.600
R | G G D H R V E L Y K | V L S S L G Y H V p.200
. | 07 . . . . g.86448
GTCACCTTTGACTACAGAG | GTTGGGGTGACTCAGTGGGAACGCCATCTGAGCGGGGCATG c.660
V T F D Y R G | W G D S V G T P S E R G M p.220
. . . . . . g.86508
ACCTATGACGCACTCCACGTTTTTGACTGGATCAAAGCAAGAAGTGGTGACAACCCCGTG c.720
T Y D A L H V F D W I K A R S G D N P V p.240
. . | 08 . . . g.87519
TACATCTGGGGCCACTCTCTGGGCACTGG | CGTGGCGACAAATCTGGTGCGGCGCCTCTGT c.780
Y I W G H S L G T G | V A T N L V R R L C p.260
| 09. . . . . . g.87990
GAGCGAG | AGACGCCTCCAGATGCCCTTATATTGGAATCTCCATTCACTAATATCCGCGAA c.840
E R E | T P P D A L I L E S P F T N I R E p.280
. . | 10. . . . g.89100
GAAGCTAAGAGCCATCCATTTTCAGTG | ATATATCGATACTTCCCTGGGTTTGACTGGTTC c.900
E A K S H P F S V | I Y R Y F P G F D W F p.300
. . . . . | 11 . g.92364
TTCCTTGATCCTATTACAAGTAGTGGAATTAAATTTGCAAATGATGAAAA | CGTGAAGCAC c.960
F L D P I T S S G I K F A N D E N | V K H p.320
. . . . . . g.92424
ATCTCCTGTCCCCTGCTCATCCTGCACGCTGAGGACGACCCGGTGGTGCCCTTCCAGCTT c.1020
I S C P L L I L H A E D D P V V P F Q L p.340
| 12 . . . . . g.93687
GGCAGAAAG | CTCTATAGCATCGCCGCACCAGCTCGAAGCTTCCGAGATTTCAAAGTTCAG c.1080
G R K | L Y S I A A P A R S F R D F K V Q p.360
. . . . . . g.93747
TTTGTGCCCTTTCATTCAGACCTTGGCTACAGGCACAAATACATTTACAAGAGCCCTGAG c.1140
F V P F H S D L G Y R H K Y I Y K S P E p.380
. | 13. . . . g.95141
CTGCCACGGATACTGAG | GGAATTCCTGGGGAAGTCGGAGCCTGAGCACCAGCACTGA c.1197
L P R I L R | E F L G K S E P E H Q H X p.398
. . . . . . g.95201
gcctggccgtgggaaggaagcatgaagacctctgccctcctcccgttttcctccagtcag c.*60
. . . . . . g.95261
cagcccggtatcctgaagccccggggggccggcacctgcaatgctcaggagcccagctcg c.*120
. . . . . . g.95321
cacctggagagcacctcagatcccaggcggggaggcccctgcaggcctgcagtgcccgga c.*180
. . . . . . g.95381
ggcctgagcatggctgtgtggaaagcgtgggtggcaggcatgtggctctccttgccgccc c.*240
. . . . . . g.95441
ctcaacctgagatcttgttgggagacttaatggcagcaggcagccatcactgcctgcttg c.*300
. . . . . . g.95501
atgctgcactgagctggacagggggagtccgggcaggggactcttggggctcgggaccat c.*360
. . . . . . g.95561
gctgagctttttggcaccacccacagagaacgtggggtccaggttctttctgcaccttcc c.*420
. . . . . . g.95621
cagcacatgcagaatgactccagtggttccatcgtcccctcctgccctgtgtacctgctt c.*480
. . . . . . g.95681
gcctttctcagctgccccacctcccctgggctggcccactcacccacagtggaagtgccc c.*540
. . . . . . g.95741
gggatctgcacttcctcccctttcacctacctgtacacctaacctggccttagactgagc c.*600
. . . . g.95788
tttatttaagaataaaatcgtggtggtggtccttttgtctctctgca c.*647
(downstream sequence)
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