(used for variant description)
(last modified August 31, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_005906.4 in the MAK gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_030040.1, covering MAK transcript NM_005906.4.
(upstream sequence)
. . . . g.5042
tcctaggagatgaaacacacaagacgccggagcttcacaagg c.-241
. . | 02 . . . . g.12727
gagcgaacgag | ggtgtttataagaatggaagtgttgtttccttgcccgattccttcatgc c.-181
. . . . . . g.12787
tatatctcatgaacctctgtaatcttgggggagagactatatttaatgatgacaaacctg c.-121
. . . . . . g.12847
tcaccagtgtagcaacaacagtgtgaggacaaaagcaaataaaaattaagaagcgttcaa c.-61
. . . . . . g.12907
atttatattcaacaaggaagtcatttcaatcaacaacttctgctgcattatttttccaag c.-1
. . . . . . g.12967
ATGAACCGATACACAACCATGAGACAGTTGGGGGACGGCACGTATGGGAGTGTGCTTATG c.60
M N R Y T T M R Q L G D G T Y G S V L M p.20
. . . . | 03 . . g.24634
GGCAAGAGTAATGAATCCGGGGAGCTGGTGGCCATCAAAAG | GATGAAGAGAAAGTTCTAT c.120
G K S N E S G E L V A I K R | M K R K F Y p.40
. . . | 04 . . . g.25608
TCTTGGGATGAATGCATGAACTTGAGAGAAGTTAAG | TCTCTGAAGAAACTTAATCATGCC c.180
S W D E C M N L R E V K | S L K K L N H A p.60
. . . . . . g.25668
AATGTTATTAAATTGAAAGAAGTTATCAGAGAAAATGACCATCTTTATTTTATATTTGAA c.240
N V I K L K E V I R E N D H L Y F I F E p.80
. . . | 05 . . g.29854
TATATGAAAGAAAACCTCTATCAATTAATGAAAGACAG | AAACAAGTTGTTCCCTGAATCA c.300
Y M K E N L Y Q L M K D R | N K L F P E S p.100
. . . . . | 06 g.34615
GTCATCAGAAATATTATGTATCAAATATTGCAAGGGCTGGCTTTTATCCATAAACATG | GC c.360
V I R N I M Y Q I L Q G L A F I H K H G | p.120
. . . . . . g.34675
TTTTTTCATAGGGACATGAAACCAGAAAACTTGCTTTGTATGGGTCCAGAGCTTGTGAAA c.420
F F H R D M K P E N L L C M G P E L V K p.140
. . . . . . g.34735
ATTGCTGATTTTGGACTTGCAAGAGAATTAAGGTCACAGCCACCATACACTGATTATGTA c.480
I A D F G L A R E L R S Q P P Y T D Y V p.160
. | 07 . . . . . g.39713
TCTACCAGATG | GTATCGTGCCCCTGAAGTTTTACTGAGATCTTCAGTTTATAGTTCTCCC c.540
S T R W | Y R A P E V L L R S S V Y S S P p.180
. . . . . . g.39773
ATTGATGTGTGGGCTGTTGGAAGTATCATGGCTGAACTCTATATGTTAAGGCCACTTTTC c.600
I D V W A V G S I M A E L Y M L R P L F p.200
. . . . . . g.39833
CCAGGGACAAGTGAGGTCGATGAAATCTTTAAAATTTGCCAAGTTTTAGGGACTCCCAAA c.660
P G T S E V D E I F K I C Q V L G T P K p.220
| 08 . . . . . . g.41553
AAA | AGTGACTGGCCAGAAGGATACCAGCTGGCATCCTCTATGAACTTCCGTTTTCCCCAG c.720
K | S D W P E G Y Q L A S S M N F R F P Q p.240
. . . . . . g.41613
TGTGTTCCTATAAACTTAAAAACTCTTATTCCCAATGCCAGTAATGAAGCTATTCAGCTC c.780
C V P I N L K T L I P N A S N E A I Q L p.260
. . . . . | 09 . g.47255
ATGACCGAAATGTTGAATTGGGATCCAAAGAAACGACCGACAGCAAGCCAG | GCATTGAAA c.840
M T E M L N W D P K K R P T A S Q | A L K p.280
. . . . . . g.47315
CACCCATATTTTCAAGTTGGTCAGGTATTAGGCCCTTCGTCAAATCATCTGGAATCAAAA c.900
H P Y F Q V G Q V L G P S S N H L E S K p.300
. . . . . . g.47375
CAGTCTTTAAATAAGCAGCTGCAACCATTAGAATCAAAGCCATCTTTAGTTGAGGTAGAG c.960
Q S L N K Q L Q P L E S K P S L V E V E p.320
. . . . . . g.47435
CCTAAGCCTCTGCCGGATATAATCGATCAGGTTGTTGGACAACCCCAGCCAAAAACTAGC c.1020
P K P L P D I I D Q V V G Q P Q P K T S p.340
. . . . . . g.47495
CAGCAGCCACTGCAGCCCATTCAGCCGCCACAGAACCTGAGCGTCCAGCAACCTCCAAAG c.1080
Q Q P L Q P I Q P P Q N L S V Q Q P P K p.360
. . . . . . g.47555
CAACAGAGTCAGGAGAAACCGCCACAAACGCTATTCCCGAGCATCGTCAAAAACATGCCA c.1140
Q Q S Q E K P P Q T L F P S I V K N M P p.380
| 10 . . . . . . g.51765
ACT | AAGCCAAATGGCACACTGAGTCATAAAAGTGGTAGGAGGCGTTGGGGTCAGACTATC c.1200
T | K P N G T L S H K S G R R R W G Q T I p.400
. . . . . . g.51825
TTCAAGTCTGGAGATAGCTGGGAAGAGTTGGAGGACTATGATTTCGGAGCCTCCCATTCC c.1260
F K S G D S W E E L E D Y D F G A S H S p.420
. . . . . | 11 . g.58987
AAGAAGCCAAGCATGGGTGTTTTTAAAGAAAAAAGGAAAAAAGATTCTCCATTTCG | GCTT c.1320
K K P S M G V F K E K R K K D S P F R | L p.440
. . . . . . g.59047
CCAGAGCCAGTACCCTCAGGCTCCAACCACTCGACAGGGGAAAACAAGAGCTTACCTGCT c.1380
P E P V P S G S N H S T G E N K S L P A p.460
. . . . . . g.59107
GTTACTTCCCTAAAATCTGATTCCGAATTGTCAACTGCTCCAACCTCTAAACAGTACTAC c.1440
V T S L K S D S E L S T A P T S K Q Y Y p.480
. . | 12 . . . . g.68131
TTGAAACAATCAAGATATCTTCCAG | GTGTGAATCCCAAGAAGGTGTCCTTGATAGCCAGT c.1500
L K Q S R Y L P G | V N P K K V S L I A S p.500
. . . . . . g.68191
GGAAAGGAAATAAACCCCCACACTTGGAGCAACCAGTTATTCCCCAAGTCACTGGGACCC c.1560
G K E I N P H T W S N Q L F P K S L G P p.520
. . . | 13. . . g.73348
GTTGGGGCAGAACTTGCTTTCAAAAGGAGCAATGCAG | GAAATCTTGGAAGTTATGCTACT c.1620
V G A E L A F K R S N A G | N L G S Y A T p.540
. . . . . . g.73408
TACAATCAGTCAGGATATATTCCTTCCTTTCTCAAAAAAGAAGTGCAGTCAGCTGGCCAG c.1680
Y N Q S G Y I P S F L K K E V Q S A G Q p.560
. . . | 14. . . g.78972
AGGATCCACTTAGCACCTCTCAATGCAACGGCTTCAG | AATATACCTGGAACACAAAAACT c.1740
R I H L A P L N A T A S E | Y T W N T K T p.580
. . . . . . g.79032
GGTCGGGGGCAGTTTTCAGGACGTACTTATAATCCTACAGCAAAAAACCTAAATATTGTG c.1800
G R G Q F S G R T Y N P T A K N L N I V p.600
. . . . . . g.79092
AACCGTGCACAGCCCATTCCCTCAGTGCATGGGAGGACAGACTGGGTGGCCAAGTATGGA c.1860
N R A Q P I P S V H G R T D W V A K Y G p.620
. g.79104
GGCCACCGGTAG c.1872
G H R X p.623
. . . . . . g.79164
gagtctatggtgtgaaaccctacagcattgctccgtagagtacgtgcaagttccttgacc c.*60
. . . . . . g.79224
ctgggaaatgtctacaaatgtctatttctactgagttctggaagaaatatgcaaaagtgg c.*120
. . . . . . g.79284
gtacttggaagggcaaaaatcatcccctattttacttatttccaagaaatgcattttctt c.*180
. . . . . . g.79344
agcatcattgcccacagtgttgatatatgggtaggatgttacaaagtattgaataaacta c.*240
. . . . . . g.79404
tttgccaaagtatgaagtatttgatctacaatttaataaatagtaaatccaataagaacc c.*300
. . . . . . g.79464
cttaaaaaaaaacaacttccagaaaatgtttagagtgttttagttttcatttgttgtatg c.*360
. . . . . . g.79524
tgcccaaatggtttagtagttcttcactttgctgtggttggcttaagaggtttgtctttt c.*420
. . . . . . g.79584
gtttttgtacagcagttgggccaacctttgctggctgtcagctgtggttcttatttgact c.*480
. . . . . . g.79644
aaggctctgcgctgccattttgtcaatgacagaaagattgcaattatttgtttttctact c.*540
. . . . . . g.79704
ttgaagctatgggagcgatggtaatttcaatcttgagcaggatatctttttttttttttt c.*600
. . . . . . g.79764
tgaggcgatgtttcactcttgtgtccaggctggagtgcagtggcactatcttggcttact c.*660
. . . . . . g.79824
gcaacctccacctcctgggttcaagtgattctcctgcctcagcctcccgagtagctggga c.*720
. . . . . . g.79884
ttagaggcgtgtgccaccatgcctggctaatttttgtagtattagtagagacagggtttc c.*780
. . . . . . g.79944
accatgttggtcaggctcaggctggtctcaaactcctgacctcaggtgatccacctgcct c.*840
. . . . . . g.80004
cggcctcccaaagtgcagggcttacaggtgtgagccacagtgcccagctttttttttttt c.*900
. . . . . . g.80064
tttttagaaataaatttatctttaacatagagaatatcaaagttatgccacttgatttta c.*960
. . . . . . g.80124
gtggacggcttgtgttttgatcttgaccagtacagttcccatgaattcaaggtgacaatc c.*1020
. . . . . . g.80184
aagcccaatggcttgatgacttcaatagtaaccaagtcaaggttctcttggctggacatc c.*1080
. . . . . . g.80244
attaagaaagttctggaaactgtgtttgtttgatgctggttcattggacttttcaaattg c.*1140
. . . . . . g.80304
ttttgtttctgtgtccctaccagacacaaagatgaagtgtgccagctggttcccccaagc c.*1200
. . . . . . g.80364
cagctcatgctgctgaccactgactcagctctgaccttcacatttgctctgaagcaagtg c.*1260
. . . . . . g.80424
cgttcagctgctggggcagtgatatcacatagtacatatattatttccttagtttatttc c.*1320
. . . . . . g.80484
caaactggtattttaaatagacacttcgaactttgggctactctgtttaaatctgccact c.*1380
. . . . . . g.80544
ttctggactggaccttagtactgtaaattctttttaaagaataataatgttaccaactgc c.*1440
. . . . . . g.80604
tgagatttttatgtattttgtgactttgtaacaactgctattgtaataagtgtcatcttg c.*1500
. . . . . . g.80664
tgggcattatacaaaggcatattataaaataataatgatatttttgtatagaagagtcaa c.*1560
. . . . . . g.80724
ctgttcagatgtaagatgttgaaaaatgttaaaatctaaagagtaatttatcctagtggt c.*1620
. . . . . . g.80784
aatggttatatgtatttgtacagtttaaattaatgtctcaaagctgtgcagtcttttgtt c.*1680
. . . . g.80833
actgggacacttttaaactctgaataggcattaaaaaaaatatggctaa c.*1729
(downstream sequence)
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