(used for variant description)
(last modified April 23, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_012213.2 in the MLYCD gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering MLYCD transcript NM_012213.2.
(upstream sequence)
. . g.5020
ggcagctgttgtggggcacc c.-1
. . . . . . g.5080
ATGCGAGGCTTCGGGCCAGGCTTGACGGCCAGGCGTCTCCTCCCGCTGCGGTTGCCCCCG c.60
M R G F G P G L T A R R L L P L R L P P p.20
. . . . . . g.5140
CGGCCGCCCGGGCCCCGGCTGGCGAGCGGGCAGGCGGCCGGCGCCCTGGAGCGGGCCATG c.120
R P P G P R L A S G Q A A G A L E R A M p.40
. . . . . . g.5200
GACGAGCTGCTGCGCCGCGCGGTGCCGCCGACGCCGGCCTACGAGCTGCGCGAGAAGACA c.180
D E L L R R A V P P T P A Y E L R E K T p.60
. . . . . . g.5260
CCGGCGCCCGCCGAGGGTCAGTGCGCGGACTTCGTGAGCTTCTACGGTGGGCTGGCCGAG c.240
P A P A E G Q C A D F V S F Y G G L A E p.80
. . . . . . g.5320
ACGGCCCAGCGGGCCGAACTGCTGGGCCGCCTGGCGCGGGGCTTCGGCGTGGACCACGGC c.300
T A Q R A E L L G R L A R G F G V D H G p.100
. . . . . . g.5380
CAGGTGGCGGAGCAGAGCGCCGGCGTGCTCCATCTGCGCCAGCAGCAGCGGGAGGCGGCG c.360
Q V A E Q S A G V L H L R Q Q Q R E A A p.120
. . . . . . g.5440
GTGCTGCTGCAGGCCGAGGACCGGCTGCGCTACGCGCTGGTGCCGCGCTATCGCGGCCTC c.420
V L L Q A E D R L R Y A L V P R Y R G L p.140
. . . . . . g.5500
TTCCACCACATCAGCAAGCTGGACGGCGGCGTGCGCTTCCTGGTGCAGCTGCGGGCCGAC c.480
F H H I S K L D G G V R F L V Q L R A D p.160
. . . . | 02 . g.12874
CTGCTGGAGGCGCAGGCCCTCAAGCTGGTGGAGGGGCCGGACGTCCGG | GAAATGAATGGG c.540
L L E A Q A L K L V E G P D V R | E M N G p.180
. . . . . . g.12934
GTGCTGAAAGGAATGCTCTCAGAATGGTTTTCCTCCGGGTTCCTGAACCTAGAACGGGTT c.600
V L K G M L S E W F S S G F L N L E R V p.200
. . . . | 03 . . g.14020
ACCTGGCATTCACCGTGTGAAGTGCTTCAGAAAATCAGTGA | GGCTGAGGCTGTGCATCCT c.660
T W H S P C E V L Q K I S E | A E A V H P p.220
. . . . . . g.14080
GTAAAAAACTGGATGGACATGAAGCGCCGCGTTGGGCCCTACAGAAGGTGTTACTTCTTT c.720
V K N W M D M K R R V G P Y R R C Y F F p.240
. . . . . . g.14140
TCTCACTGTTCGACCCCTGGGGAGCCCCTGGTCGTTTTGCACGTGGCACTGACTGGTGAC c.780
S H C S T P G E P L V V L H V A L T G D p.260
. | 04 . . . . g.18135
ATCTCCAGCAACATCCAG | GCAATCGTGAAGGAACATCCTCCATCAGAAACAGAAGAGAAG c.840
I S S N I Q | A I V K E H P P S E T E E K p.280
. . . . . . g.18195
AACAAAATCACTGCTGCGATCTTTTATTCCATCAGCTTGACCCAGCAGGGACTCCAAGGG c.900
N K I T A A I F Y S I S L T Q Q G L Q G p.300
. . . . | 05 . g.20843
GTGGAGCTGGGAACATTCCTCATAAAGCGAGTCGTCAAGGAGTTGCAG | AGAGAGTTTCCT c.960
V E L G T F L I K R V V K E L Q | R E F P p.320
. . . . . . g.20903
CACCTTGGGGTGTTTTCAAGTCTGTCACCTATACCTGGTTTCACCAAATGGCTTCTGGGG c.1020
H L G V F S S L S P I P G F T K W L L G p.340
. . . . . . g.20963
CTTCTGAACTCGCAAACGAAGGAGCATGGGAGGAATGAACTCTTTACAGATTCGGAATGT c.1080
L L N S Q T K E H G R N E L F T D S E C p.360
. . . . . . g.21023
AAGGAAATCTCGGAGATCACAGGTGGCCCCATTAACGAGACCCTCAAGCTCCTCCTCAGC c.1140
K E I S E I T G G P I N E T L K L L L S p.380
. . . . . . g.21083
AGCAGCGAGTGGGTGCAGTCGGAGAAGCTGGTGCGGGCGCTGCAGACTCCGCTGATGAGG c.1200
S S E W V Q S E K L V R A L Q T P L M R p.400
. . . . . . g.21143
CTGTGCGCCTGGTACCTGTATGGAGAGAAGCACCGCGGCTACGCGCTGAACCCCGTGGCC c.1260
L C A W Y L Y G E K H R G Y A L N P V A p.420
. . . . . . g.21203
AACTTCCACCTGCAGAACGGGGCGGTGCTGTGGCGCATCAACTGGATGGCGGATGTGAGC c.1320
N F H L Q N G A V L W R I N W M A D V S p.440
. . . . . . g.21263
CTCAGAGGCATCACCGGCTCCTGCGGCCTGATGGCCAACTACCGCTACTTCCTGGAGGAG c.1380
L R G I T G S C G L M A N Y R Y F L E E p.460
. . . . . . g.21323
ACGGGCCCCAACAGCACCTCCTACCTCGGCTCCAAGATCATCAAAGCCTCTGAGCAGGTC c.1440
T G P N S T S Y L G S K I I K A S E Q V p.480
. . . . g.21365
CTCAGCCTAGTGGCCCAGTTTCAAAAGAACAGCAAGCTCTGA c.1482
L S L V A Q F Q K N S K L X p.493
. . . . . . g.21425
cagtaaacctctcctaaagcacagggccccggctaagaaaacgatcattttcaggagggg c.*60
. . . . . . g.21485
ccgggagttatgtatctgaagcagctttccaagcaaagccaaagttgactgtgttcttgt c.*120
. . . . . . g.21545
cccgcagccggtccacactgtgaggccaggcctcaacttccctcaccctgggcgtgacat c.*180
. . . . . . g.21605
gcacccagtgcaagacggttgtgggtgcgggtgcacacaaatgagtgggttgctgtgctg c.*240
. . . . . . g.21665
tctccggaagattctgtcgttgcccttggcctggctccctgcccggggctggtgctgtgg c.*300
. . . . . . g.21725
tacctacatcttcaggaagctgtgcagcctctgccattgccatcccagggggatctggca c.*360
. . . . . . g.21785
tcctcctaaggaccggggcgcgtggcccagataagaataggtgttcctttgtgctcataa c.*420
. . . . . . g.21845
aacagaatgcggcgatggttgctttagccgtttctcaccatgcaatgcagagggacaaag c.*480
. . . . . . g.21905
ggctgtgctacacttcccagttacattctgaagctcataaatgtatgagaaggtttgtga c.*540
. . . . . . g.21965
ttttgcacaaggtgtgtgtagtaagttaaattgttgaacacaaaaatgttgctgcttgag c.*600
. . . . . . g.22025
gcataagttggataataggctttaaatgatcagggattcaggttcataatgaacttcaca c.*660
. . . g.22058
gtaaagaacacgtttgttctgtaaagcattgaa c.*693
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 26
©2004-2021 Leiden University Medical Center