(used for mutation description)
(last modified March 25, 2013)
This file was created to facilitate the description of sequence variants in the MICU1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033179.1, covering MICU1 transcript NM_006077.3.
(upstream sequence)
g.5003
gtt c.-181
. . . . . . g.5063
ccttttcctctgtgcccctcccacacgcctgtctccacgatcccgacaggcccagcggct c.-121
. . . . . . g.5123
aggagagtcacgtgagagtgggcggagggggtggaggtttgtctccgctgtttcatctct c.-61
. . . . . . | 02 g.64398
atggctgtcagaggtgggcggctttgaccgagaggctgctggagctcgtgtttggacgc | g c.-1
. . . . . . g.64458
ATGTTTCGTCTGAACTCACTTTCTGCTTTGGCAGAACTGGCTGTGGGTTCTCGATGGTAC c.60
M F R L N S L S A L A E L A V G S R W Y p.20
. . . . . . g.64518
CATGGAGGATCACAGCCCATCCAGATCCGGCGAAGACTAATGATGGTGGCTTTCCTGGGA c.120
H G G S Q P I Q I R R R L M M V A F L G p.40
. . . . | 03 . . g.68147
GCATCTGCAGTAACTGCAAGTACTGGTCTTTTGTGGAAGAG | GGCCCATGCAGAATCTCCA c.180
A S A V T A S T G L L W K R | A H A E S P p.60
. . . . . . g.68207
CCATGTGTAGACAACCTAAAAAGTGACATCGGTGATAAAGGGAAGAATAAAGATGAAGGG c.240
P C V D N L K S D I G D K G K N K D E G p.80
. . . . . . g.68267
GATGTTTGTAACCATGAGAAAAAGACTGCAGATCTTGCCCCTCACCCAGAAGAGAAAAAG c.300
D V C N H E K K T A D L A P H P E E K K p.100
. . . | 04 . . . g.79880
AAGAAACGTTCTGGATTCAGAGACAGAAAA | GTGATGGAATATGAGAATAGGATTCGAGCC c.360
K K R S G F R D R K | V M E Y E N R I R A p.120
. . . . . . g.79940
TACTCCACGCCAGACAAAATCTTCCGATATTTTGCCACCTTGAAAGTCATCAGTGAGCCT c.420
Y S T P D K I F R Y F A T L K V I S E P p.140
. . . . . . g.80000
GGTGAAGCAGAAGTGTTTATGACACCAGAAGATTTTGTGCGATCCATAACACCCAATGAA c.480
G E A E V F M T P E D F V R S I T P N E p.160
. | 05 . . . . | 06. g.121791
AAACAACCAGAAC | ACTTGGGTCTGGATCAATATATAATAAAACGCTTTGATGGAAAG | ACA c.540
K Q P E H | L G L D Q Y I I K R F D G K | T p.180
| 07 . . . . . . g.122979
GAG | AAAATTTCCCAGGAACGAGAAAAATTTGCTGATGAAGGCAGTATATTTTACACCCTT c.600
E | K I S Q E R E K F A D E G S I F Y T L p.200
. . . . . | 08 g.153937
GGAGAATGTGGGCTCATATCCTTTTCAGACTACATTTTCCTCACAACTGTTCTTTCCA | CT c.660
G E C G L I S F S D Y I F L T T V L S T | p.220
. . . . . . g.153997
CCTCAGAGAAATTTTGAAATTGCCTTCAAGATGTTTGATTTGAATGGAGATGGAGAAGTA c.720
P Q R N F E I A F K M F D L N G D G E V p.240
. . | 09 . . . . g.155933
GATATGGAAGAATTTGAACAG | GTTCAGAGCATCATTCGCTCCCAAACCAGTATGGGTATG c.780
D M E E F E Q | V Q S I I R S Q T S M G M p.260
. . . . . . g.155993
CGCCACAGAGATCGTCCAACTACTGGCAACACCCTCAAGTCTGGCTTGTGTTCAGCCCTC c.840
R H R D R P T T G N T L K S G L C S A L p.280
. . . . . . g.156053
ACAACCTACTTTTTTGGAGCTGATCTGAAGGGAAAGCTGACAATCAAAAACTTCCTCGAA c.900
T T Y F F G A D L K G K L T I K N F L E p.300
. . . | 10 . . g.207841
TTTCAGCGTAAACTGCAGCATGATGTTCTGAAGCTTGAG | TTTGAACGCCATGACCCTGTG c.960
F Q R K L Q H D V L K L E | F E R H D P V p.320
. . . . . . g.207901
GATGGGAGAATTACTGAGAGGCAGTTTGGTGGCATGCTACTTGCCTACAGTGGGGTGCAG c.1020
D G R I T E R Q F G G M L L A Y S G V Q p.340
. . . . . | 11. g.223157
TCCAAGAAGCTGACCGCCATGCAGAGGCAGCTCAAGAAGCACTTCAAAGAAGGAAAG | GGT c.1080
S K K L T A M Q R Q L K K H F K E G K | G p.360
. . . . . . g.223217
CTGACATTTCAGGAGGTGGAGAACTTCTTTACTTTCCTAAAGAACATTAATGATGTGGAC c.1140
L T F Q E V E N F F T F L K N I N D V D p.380
. . . . | 12 . . g.255333
ACTGCATTGAGTTTTTACCATATGGCTGGAGCATCTCTTGATAAAG | TGACCATGCAGCAG c.1200
T A L S F Y H M A G A S L D K V | T M Q Q p.400
. . . . . . g.255393
GTGGCCAGGACAGTGGCTAAAGTGGAGCTCTCAGACCACGTGTGTGATGTGGTGTTTGCA c.1260
V A R T V A K V E L S D H V C D V V F A p.420
. | 13 . . . . . g.262880
CTCTTTGACTGTGATG | GCAATGGCGAACTGAGCAATAAGGAATTTGTTTCCATCATGAAG c.1320
L F D C D G | N G E L S N K E F V S I M K p.440
. . . . . . g.262940
CAACGGCTGATGAGAGGCCTGGAAAAGCCCAAAGACATGGGTTTCACTCGCCTCATGCAG c.1380
Q R L M R G L E K P K D M G F T R L M Q p.460
. . . . . g.262997
GCCATGTGGAAATGTGCACAGGAAACTGCCTGGGACTTCGCTTTACCCAAACAGTAA c.1437
A M W K C A Q E T A W D F A L P K Q X p.478
. . . . . . g.263057
ccccacactgcaagaggggacccctccacccccagtaccctggaccccctccgcagagtc c.*60
. . . . . . g.263117
tcggcagagccctttgtgctgctgcttctggaagtagtcccccttcctcccgggatgacc c.*120
. . . . . . g.263177
tcaggactctgtcggtttcccctctttacccttccccgtccccgtgttctgctgggctct c.*180
. . . . . . g.263237
gattctgcccaatgagtatccccataggttctcaaaaacatgaacaagtctgtaaagctc c.*240
. . . . . . g.263297
agacatttgtcagcctcaacagcaccacccattcaagcatcctgtggataaagaattcag c.*300
. . . . . . g.263357
ggaaccatccacacacctgccaaccctgggaagcatccagttctcaaatcgtttttgcta c.*360
. . . . . . g.263417
tggatttatactaacaagaacattccttgacttccctcctgctggtgttttaaagccaca c.*420
. . . . . . g.263477
agtagggaagatatctggcaggcagaaagaagtctgtgatgataaacaatgatgaggatg c.*480
. . . . . . g.263537
acctaggcaccctacgctagtgtgagaagcctgcgccccaggaaggatctgtgttagtcc c.*540
. . . . . . g.263597
ctgggatggctccaaggcctgctctaggaaggcagcatgctcagtgggaacacagcaaga c.*600
. . . . . . g.263657
ttcagaatttaaagtagttgcttcatggctctgtgcactcccttttcttcctcgcagcct c.*660
. . . . . . g.263717
ccctaagatgactccagtgtgaccctgtgcttagtgagcaatagtgattgagctcatgtt c.*720
. . . . . . g.263777
ccctgcaagtgccatttcctctccaggatgggcctctaaagctgaggcctggctcagagc c.*780
. . . . . . g.263837
ctgtttgccctctgtcttaaacaattgtaaatatcacttaaattataaccatttgcaata c.*840
. . g.263866
aacatccccaaagttccctgtctccttta c.*869
(downstream sequence)
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