(used for variant description)
(last modified June 19, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_016011.2 in the MECR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_053058.1, covering MECR transcript NM_016011.2.
(upstream sequence)
. . . g.5036
gccggggcgtcaggctctgtgttggttggagcgagc c.-1
. . . . . . g.5096
ATGTGGGTCTGCAGTACCCTGTGGCGGGTGCGAACCCCCGCCCGGCAGTGGCGGGGGCTG c.60
M W V C S T L W R V R T P A R Q W R G L p.20
. . . . . . g.5156
CTCCCAGCTTCTGGCTGTCACGGACCTGCCGCCTCCTCCTACTCCGCATCCGCCGAGCCT c.120
L P A S G C H G P A A S S Y S A S A E P p.40
. . . . . | 02 . g.19261
GCCCGGGTCCGGGCGCTTGTCTATGGGCACCACGGGGATCCAGCCAAGGTCGTCGA | ACTC c.180
A R V R A L V Y G H H G D P A K V V E | L p.60
. . . . . . g.19321
AAGAACCTGGAGCTAGCTGCTGTGAGAGGATCAGATGTCCGTGTGAAGATGCTGGCGGCC c.240
K N L E L A A V R G S D V R V K M L A A p.80
. . . | 03 . . . g.19832
CCTATCAATCCATCTGACATAAATATGATCCAAG | GAAACTACGGATTCCTTCCTGAACTG c.300
P I N P S D I N M I Q G | N Y G F L P E L p.100
. . . . . . g.19892
CCTGCTGTTGGAGGGAACGAAGGTGTTGCACAGGTGGTAGCGGTGGGCAGCAATGTGACC c.360
P A V G G N E G V A Q V V A V G S N V T p.120
. . . . | 04 . . g.29051
GGGCTGAAGCCAGGAGACTGGGTGATTCCAGCAAATGCTGGTTTAG | GAACCTGGCGGACC c.420
G L K P G D W V I P A N A G L G | T W R T p.140
. . . . . . g.29111
GAGGCTGTGTTCAGCGAGGAAGCACTGATCCAAGTTCCGAGTGACATCCCTCTTCAGAGC c.480
E A V F S E E A L I Q V P S D I P L Q S p.160
. . . . . . g.29171
GCTGCCACCCTGGGTGTCAATCCCTGCACAGCCTACAGGATGTTGATGGACTTCGAGCAA c.540
A A T L G V N P C T A Y R M L M D F E Q p.180
. | 05 . . . . . g.32759
CTGCAGCCAG | GGGATTCTGTCATCCAGAATGCATCCAACAGCGGAGTGGGGCAAGCAGTC c.600
L Q P G | D S V I Q N A S N S G V G Q A V p.200
. . . . . | 06 . g.33904
ATCCAGATCGCCGCAGCCCTGGGCCTAAGAACCATCAATGTGGTCCGAGACAG | ACCTGAT c.660
I Q I A A A L G L R T I N V V R D R | P D p.220
. . . . . . g.33964
ATCCAGAAGCTGAGTGACAGACTGAAGAGTCTGGGGGCTGAGCATGTCATCACAGAAGAG c.720
I Q K L S D R L K S L G A E H V I T E E p.240
. . . | 07 . . . g.35377
GAGCTAAGAAGGCCCGAAATGAAAAACTTCTTTAAG | GACATGCCCCAGCCACGGCTTGCT c.780
E L R R P E M K N F F K | D M P Q P R L A p.260
. . . . . | 08 . g.39694
CTCAACTGTGTTGGTGGGAAAAGCTCCACAGAGCTGCTGCGGCAGTTAGC | GCGTGGAGGA c.840
L N C V G G K S S T E L L R Q L A | R G G p.280
. . . . . | 09 . g.39938
ACCATGGTAACCTATGGGGGGATGGCCAAGCAGCCCGTCGTAGCCTCTGTG | AGCCTGCTC c.900
T M V T Y G G M A K Q P V V A S V | S L L p.300
. . . . . . g.39998
ATTTTTAAGGATCTCAAACTTCGAGGCTTTTGGTTGTCCCAGTGGAAGAAGGATCACAGT c.960
I F K D L K L R G F W L S Q W K K D H S p.320
| 10 . . . . . . g.41819
CCAG | ACCAGTTCAAGGAGCTGATCCTCACACTGTGCGATCTCATCCGCCGAGGCCAGCTC c.1020
P D | Q F K E L I L T L C D L I R R G Q L p.340
. . . . . . g.41879
ACAGCCCCTGCCTGCTCCCAGGTCCCGCTGCAGGACTACCAGTCTGCCTTGGAAGCCTCC c.1080
T A P A C S Q V P L Q D Y Q S A L E A S p.360
. . . . g.41921
ATGAAGCCCTTCATATCTTCAAAGCAGATTCTCACCATGTGA c.1122
M K P F I S S K Q I L T M X p.373
. . . . . . g.41981
tcatcccaaaagagctggagtgacatgggaggggaggcggatctgaggggctgggtgcag c.*60
. . . . . . g.42041
gcccctcagttggggctcccaccttccccagactactgttctcctcactgcctcttccta c.*120
. . . . . . g.42101
ttaggaggatggtgaagccagccacggttttccccagggccagccttaaggtatctaata c.*180
. . . . . . g.42161
aagtctgaactctcccttccaaaaagtagaagtcatccctgtcgagaaggaccaacactg c.*240
. . . . . . g.42221
tgcactggtcagctcacagcaccaagaggcccccttcctgcttttctgtcatgtgttccc c.*300
. . . . . . g.42281
ccagtaatcattttctgaccaccctgaaagcaaagcctgggtgggtactggcagtgcaaa c.*360
. . . . . . g.42341
ggccagtaggccaccatccctggccccaagctgcacaagcccacagacgagggtcctgta c.*420
. . . . . . g.42401
gaacaaacgctttgatgtgcttctcaggtagcctgcggcccagtccagggcttggggagg c.*480
. . . . . . g.42461
atcagctgcatggaagagtgaatgccaggctgaggtcatcagggccctgaggaacttgga c.*540
. . . . . . g.42521
cgtggggtcttcactctcatggaactgcccttctaactggagacatagacaatataccag c.*600
. . . . . . g.42581
tggttctcaaccagaggcaattttacccccaggagacatttgacaatgtctggggatatt c.*660
. . . . . . g.42641
tctggctatcacagcttatgaaggaggttgctactggcatctagcaggcagagtgagtgc c.*720
. . . . . . g.42701
tgctgttaaacccaccacaggacacagaacagtctactgcaacaaagaattacccaaggc c.*780
. . . . . . g.42761
ctggcgcggtggctcacacctgtaatcccagcactttgggaagccaaggcaagcggatca c.*840
. . . . . . g.42821
cttgagcccaggagttcaaggtcaacctaggtaacgtggtgaaacaccatctctacaaaa c.*900
. . . . . . g.42881
aatacaaacattagccaggtatggtgctgtgcacctgtagtcccagctactcgggaggtt c.*960
. . . . . . g.42941
gaggtgggaggatcacctgagcctgggaggtctagactgcagtgagccatgatcatgcca c.*1020
. . . . . . g.43001
ctgcattccagcctaggcaacagagcaagaccctatatcaaaaaaaaaaaaaaaatctag c.*1080
. . . . . . g.43061
ccccaaatgttcaatgttcatgaggtcgttgataaaccgtgcattaaacaatctcacagt c.*1140
g.43070
aattaccat c.*1149
(downstream sequence)
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