(used for variant description)
(last modified February 17, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_022765.3 in the MICAL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_042833.1, covering MICAL1 transcript NM_022765.3.
(upstream sequence)
. g.5012
cccaagactgtc c.-301
. . . . . . g.5072
cccgctggaggcggtagagggatccagaagtaatgagatgctaatgagtcgcgaataaag c.-241
. . . . . . g.5132
cccgggcggcgccccgcgcccctcgcggaagcccacactccgcgcgactccaggcgcacg c.-181
. . . . . . g.5192
ccccgggccgccccgcatcccagcatccccgcccgatctcggcgtttccgcccccgcccc c.-121
. . . . . . g.5252
cgcccccgccctcccacccgctcagacctggttgccagcccaacaggaagcggcccctcc c.-61
. . | 02 . . . . g.6791
cggcttcggagccgccg | ccactcatctctgcccagctgctgccctccccaggaggcctcc c.-1
. . . . . . g.6851
ATGGCTTCACCTACCTCCACCAACCCAGCGCATGCCCACTTTGAGAGCTTCCTGCAGGCC c.60
M A S P T S T N P A H A H F E S F L Q A p.20
. . . . . . g.6911
CAGCTGTGCCAGGACGTGCTGAGCAGCTTCCAGGAGCTGTGTGGGGCCCTGGGGCTGGAA c.120
Q L C Q D V L S S F Q E L C G A L G L E p.40
. . . . . . g.6971
CCCGGTGGGGGGCTGCCCCAGTACCACAAGATCAAGGACCAGCTCAACTACTGGAGCGCC c.180
P G G G L P Q Y H K I K D Q L N Y W S A p.60
. . . . . . g.7031
AAGTCACTGTGGACCAAGCTGGACAAGCGAGCAGGCCAGCCTGTCTACCAGCAGGGCCGG c.240
K S L W T K L D K R A G Q P V Y Q Q G R p.80
. | 03 . . . . g.7184
GCCTGCACCAGCACCAAG | TGCCTGGTGGTGGGTGCTGGACCTTGCGGGCTGCGGGTCGCT c.300
A C T S T K | C L V V G A G P C G L R V A p.100
. . . . . . g.7244
GTGGAGCTGGCGCTGCTGGGGGCCCGAGTGGTGCTGGTGGAAAAGCGCACCAAGTTCTCT c.360
V E L A L L G A R V V L V E K R T K F S p.120
. . . . . . g.7304
CGCCACAACGTGCTCCACCTCTGGCCCTTCACCATCCACGACCTGCGGGCACTCGGTGCT c.420
R H N V L H L W P F T I H D L R A L G A p.140
. . . . | 04 . . g.7634
AAGAAGTTCTACGGGCGCTTCTGCACCGGCACCCTGGACCACATCA | GCATCAGGCAGCTC c.480
K K F Y G R F C T G T L D H I S | I R Q L p.160
. . . . . . g.7694
CAGCTGCTTCTGCTGAAGGTAGCATTGCTGCTGGGGGTGGAAATTCACTGGGGTGTCACT c.540
Q L L L L K V A L L L G V E I H W G V T p.180
. . . | 05 . . . g.8401
TTCACTGGCCTCCAGCCCCCTCCTAGGAAGG | GGAGTGGCTGGCGTGCCCAGCTCCAACCC c.600
F T G L Q P P P R K G | S G W R A Q L Q P p.200
. . . . . . g.8461
AACCCCCCTGCCCAGCTGGCCAACTATGAATTTGACGTCCTTATCTCGGCTGCAGGAGGT c.660
N P P A Q L A N Y E F D V L I S A A G G p.220
. | 06 . . . . . g.8630
AAATTCGTCCCTGAAG | GCTTCAAAGTTCGAGAAATGCGAGGCAAACTGGCCATTGGCATC c.720
K F V P E G | F K V R E M R G K L A I G I p.240
. . . . . . g.8690
ACAGCCAACTTTGTGAATGGACGCACCGTGGAGGAGACACAGGTGCCGGAGATCAGTGGT c.780
T A N F V N G R T V E E T Q V P E I S G p.260
. . . . . | 07 . g.9295
GTAGCCAGGATCTACAACCAGAGCTTCTTCCAGAGCCTTCTCAAAGCCACAG | GCATTGAT c.840
V A R I Y N Q S F F Q S L L K A T G | I D p.280
. . . . . . g.9355
CTGGAGAACATTGTGTACTACAAGGACGACACCCACTACTTTGTGATGACAGCCAAGAAG c.900
L E N I V Y Y K D D T H Y F V M T A K K p.300
. . . | 08 . . . g.10457
CAGTGCCTGCTGCGGCTGGGGGTGCTGCGCCAG | GACTGGCCAGACACCAATCGGCTGCTG c.960
Q C L L R L G V L R Q | D W P D T N R L L p.320
. . . . . . g.10517
GGCAGTGCCAATGTGGTGCCCGAGGCTCTGCAGCGCTTTACCCGGGCAGCTGCTGACTTT c.1020
G S A N V V P E A L Q R F T R A A A D F p.340
. . . . . . g.10577
GCCACCCATGGCAAGCTCGGGAAACTAGAGTTTGCCCAGGATGCCCATGGGCAGCCTGAT c.1080
A T H G K L G K L E F A Q D A H G Q P D p.360
. . . . . . g.10637
GTCTCTGCCTTTGACTTCACGAGCATGATGCGGGCAGAGAGTTCTGCTCGTGTGCAAGAG c.1140
V S A F D F T S M M R A E S S A R V Q E p.380
. . . . . | 09 . g.10911
AAGCATGGCGCCCGCCTGCTGCTGGGACTGGTGGGGGACTGCCTGGTGGAG | CCCTTCTGG c.1200
K H G A R L L L G L V G D C L V E | P F W p.400
. . . . . . g.10971
CCCCTGGGCACTGGAGTGGCACGGGGCTTCCTGGCAGCCTTTGATGCAGCCTGGATGGTG c.1260
P L G T G V A R G F L A A F D A A W M V p.420
. . . . | 10. . g.11217
AAGCGGTGGGCAGAGGGCGCTGAGTCCCTAGAGGTGTTGGCTGAGCG | TGAGAGCCTGTAC c.1320
K R W A E G A E S L E V L A E R | E S L Y p.440
. . . . . . g.11277
CAGCTTCTGTCACAGACATCCCCAGAAAACATGCATCGCAATGTGGCCCAGTATGGGCTG c.1380
Q L L S Q T S P E N M H R N V A Q Y G L p.460
. . . . . | 11 . g.11512
GACCCAGCCACCCGCTACCCCAACCTGAACCTCCGGGCAGTGACCCCCAATCAG | GTACGA c.1440
D P A T R Y P N L N L R A V T P N Q | V R p.480
. . . . . . g.11572
GACCTGTATGATGTGCTAGCCAAGGAGCCTGTGCAGAGGAACAACGACAAGACAGATACA c.1500
D L Y D V L A K E P V Q R N N D K T D T p.500
. | 12 . . . . . g.12152
GGGATGCCAGCCACCG | GGTCGGCAGGCACCCAGGAGGAGCTGCTACGCTGGTGCCAGGAG c.1560
G M P A T G | S A G T Q E E L L R W C Q E p.520
. . . . . . g.12212
CAGACAGCTGGGTACCCGGGAGTCCACGTCTCCGATTTGTCTTCCTCCTGGGCTGATGGG c.1620
Q T A G Y P G V H V S D L S S S W A D G p.540
. . . . | 13 . . g.12610
CTAGCTCTGTGTGCCCTGGTGTACCGGCTGCAGCCTGGCCTGCT | GGAACCCTCAGAGCTG c.1680
L A L C A L V Y R L Q P G L L | E P S E L p.560
. . . . . . g.12670
CAGGGGCTGGGAGCTCTGGAAGCAACTGCTTGGGCACTAAAGGTGGCAGAGAATGAGCTG c.1740
Q G L G A L E A T A W A L K V A E N E L p.580
. . . . . . g.12730
GGCATCACACCGGTGGTGTCTGCACAGGCCGTGGTAGCAGGGAGTGACCCACTGGGCCTC c.1800
G I T P V V S A Q A V V A G S D P L G L p.600
. . . . . | 14 . g.13029
ATTGCCTACCTCAGCCACTTCCACAGTGCCTTCAAGAGCATGGCCCACAGCCCAG | GCCCT c.1860
I A Y L S H F H S A F K S M A H S P G | P p.620
. . . . . . g.13089
GTCAGCCAGGCCTCCCCAGGGACCTCCAGTGCTGTATTATTCCTTAGTAAACTTCAGAGG c.1920
V S Q A S P G T S S A V L F L S K L Q R p.640
. . | 15 . . . . g.13301
ACCCTGCAGCGATCCCGGGCCAAG | GAAAATGCAGAGGATGCTGGTGGCAAGAAGCTGCGC c.1980
T L Q R S R A K | E N A E D A G G K K L R p.660
| 16 . . . . . . g.13601
TTGGAG | ATGGAGGCCGAGACCCCAAGTACTGAGGTGCCACCTGACCCAGAGCCTGGTGTA c.2040
L E | M E A E T P S T E V P P D P E P G V p.680
. . . | 17 . . . g.13788
CCCCTGACACCCCCATCCCAACACCAGGAG | GCCGGTGCTGGGGACCTGTGTGCACTTTGT c.2100
P L T P P S Q H Q E | A G A G D L C A L C p.700
. . . . . . g.13848
GGGGAACACCTCTATGTCCTGGAACGCCTCTGTGTCAACGGCCATTTCTTCCACCGGAGC c.2160
G E H L Y V L E R L C V N G H F F H R S p.720
. . . . . . g.13908
TGCTTCCGCTGCCATACCTGTGAGGCCACACTGTGGCCAGGTGGCTACGAGCAGCACCCA c.2220
C F R C H T C E A T L W P G G Y E Q H P p.740
| 18. . . . . . g.14268
GGAGATG | GACATTTCTACTGCCTCCAGCACCTGCCCCAGACAGACCACAAAGCGGAAGGC c.2280
G D G | H F Y C L Q H L P Q T D H K A E G p.760
. . | 19 . . . . g.14611
AGCGATAGAGGCCCTGAGAGTCCG | GAGCTCCCCACACCAAGTGAGAATAGCATGCCACCA c.2340
S D R G P E S P | E L P T P S E N S M P P p.780
. . . . . . g.14671
GGCCTCTCAACTCCCACAGCCTCGCAGGAGGGGGCCGGTCCTGTTCCAGATCCCAGCCAG c.2400
G L S T P T A S Q E G A G P V P D P S Q p.800
. . . . . . g.14731
CCCACCCGTCGGCAGATCCGCCTCTCCAGCCCGGAGCGCCAGCGGTTGTCCTCCCTTAAC c.2460
P T R R Q I R L S S P E R Q R L S S L N p.820
. . . . . . g.14791
CTTACCCCTGACCCGGAAATGGAGCCTCCACCCAAGCCTCCCCGCAGCTGCTCCGCCTTG c.2520
L T P D P E M E P P P K P P R S C S A L p.840
. . . . . . g.14851
GCCCGCCACGCCCTGGAGAGCAGCTTTGTGGGCTGGGGCCTGCCAGTCCAGAGCCCTCAA c.2580
A R H A L E S S F V G W G L P V Q S P Q p.860
| 20 . . . . . . g.15184
G | CTCTTGTGGCCATGGAGAAGGAGGAAAAAGAGAGTCCCTTCTCCAGTGAAGAGGAAGAA c.2640
A | L V A M E K E E K E S P F S S E E E E p.880
. . . | 21 . . . g.15485
GAAGATGTGCCTTTGGACTCAGATGTGGAACAG | GCCCTGCAGACCTTTGCCAAGACCTCA c.2700
E D V P L D S D V E Q | A L Q T F A K T S p.900
. . . . . . g.15545
GGCACCATGAATAACTACCCAACATGGCGTCGGACTCTGCTGCGCCGTGCGAAGGAGGAG c.2760
G T M N N Y P T W R R T L L R R A K E E p.920
. . | 22. . . . g.15730
GAGATGAAGAGGTTCTGCAAGGCCCAG | ACCATCCAACGGCGACTAAATGAGATTGAGGCT c.2820
E M K R F C K A Q | T I Q R R L N E I E A p.940
. . . . . . g.15790
GCCTTGAGGGAGCTAGAGGCCGAGGGCGTGAAGCTGGAGCTGGCCTTGAGGCGCCAGAGC c.2880
A L R E L E A E G V K L E L A L R R Q S p.960
| 23 . . . . . . g.16051
A | GTTCCCCAGAACAGCAAAAGAAACTATGGGTAGGACAGCTGCTACAGCTCGTTGACAAG c.2940
S | S P E Q Q K K L W V G Q L L Q L V D K p.980
. . . . | 24 . . g.16208
AAAAACAGCCTGGTGGCTGAGGAGGCCGAGCTCATGATCAC | GGTGCAGGAATTGAATCTG c.3000
K N S L V A E E A E L M I T | V Q E L N L p.1000
. . . . . | 25 . g.16653
GAGGAGAAACAGTGGCAGCTGGACCAGGAGCTACGAGGCTACATGAACCGGGAAG | AAAAC c.3060
E E K Q W Q L D Q E L R G Y M N R E E | N p.1020
. . . . . . g.16713
CTAAAGACAGCTGCTGATCGGCAGGCTGAGGACCAGGTCCTGAGGAAGCTGGTGGATTTG c.3120
L K T A A D R Q A E D Q V L R K L V D L p.1040
. . . . . . g.16773
GTCAACCAGAGAGATGCCCTCATCCGCTTCCAGGAGGAGCGCAGGCTCAGCGAGCTGGCC c.3180
V N Q R D A L I R F Q E E R R L S E L A p.1060
. . g.16797
TTGGGGACAGGGGCCCAGGGCTAG c.3204
L G T G A Q G X p.1067
. . . . . . g.16857
acgagggtgggccgtctgctttcgttcccacaaagaaagcacctcaccccagcacagtgc c.*60
. . . . . . g.16917
cacccctgttcatctgggctgcctggcagagagccttgctgtttacaattaaaatgtttc c.*120
g.16926
tgccacaaa c.*129
(downstream sequence)
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