(used for mutation description)
(last modified May 2, 2014)
This file was created to facilitate the description of sequence variants in the RBCK1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.10, covering RBCK1 transcript NM_031229.2.
(upstream sequence)
. . . g.1046
agctccttcccgcggctctgcgatgcggcccgc c.-661
. . . . . . g.1106
agggtgacccgggcgggagtccggggacccgcgatcagccccggaggacggggtggggtc c.-601
. . . . . . g.1166
gccccaaacaggagcgccgggaccgctgggaccccgcactcggcgtccgccgccgccggg c.-541
. . . . . . g.1226
tagccgggcagtggaggtcccggatgaggcgacaatttttccggccccccctcccagtcc c.-481
. . . . . . g.1286
cgccccacttccggggccgccactttcactttctcttccgccgaagccgctccccttgcg c.-421
. . . . . . g.1346
aagaactggggcctcccgggaggagagagggctttgccttgaaacccgggacgccagggg c.-361
. . . . . . g.1406
cgctcccgcaagtgggggtcctccgggacttggaacgccccggctgggtggtgtccgggc c.-301
. . . . . . g.1466
gtcctttccccgcttcttcccacctcggctggtcccgtttcctcctgcgcccagtgcgga c.-241
. . . . . . g.1526
cctgtctcggcgcccgctgccctctcaccgccccacgcaggatcccggcctggtcaccgg c.-181
. . . . . . g.1586
gcagtgtgatgcttcccgactgccgcggggacagcgaggcacacacagggcttgggccgc c.-121
. . . . . . g.1646
gccggaggccacacggcctggctgagttgctcctggtctcccgcctctcccaggcgaccc c.-61
. . . . . . g.1706
ggaggtagcatttcccaggaggcacggtcccccccagggggatgggcacagccacgccag c.-1
. . | 02 . . . . g.2867
ATGGACGAGAAGACCAAGAAAG | CAGAGGAAATGGCCCTGAGCCTCACCCGAGCAGTGGCG c.60
M D E K T K K A | E E M A L S L T R A V A p.20
. . . . . . g.2927
GGCGGGGATGAACAGGTGGCAATGAAGTGTGCCATCTGGCTGGCAGAGCAACGGGTGCCC c.120
G G D E Q V A M K C A I W L A E Q R V P p.40
. . . . | 03. . g.10487
CTGAGTGTGCAACTGAAGCCTGAGGTCTCCCCAACGCAGGACATCAG | GCTGTGGGTGAGC c.180
L S V Q L K P E V S P T Q D I R | L W V S p.60
. . . . . . g.10547
GTGGAGGATGCTCAGATGCACACCGTCACCATCTGGCTCACAGTGCGCCCTGATATGACA c.240
V E D A Q M H T V T I W L T V R P D M T p.80
. . | 04 . . . . g.10719
GTGGCGTCTCTCAAGGACATG | GTTTTTCTGGACTATGGCTTCCCACCAGTCTTGCAGCAG c.300
V A S L K D M | V F L D Y G F P P V L Q Q p.100
. . . . . . g.10779
TGGGTGATTGGGCAGCGGCTGGCACGAGACCAGGAGACCCTGCACTCCCATGGGGTGCGG c.360
W V I G Q R L A R D Q E T L H S H G V R p.120
. . . . . . g.10839
CAGAATGGGGACAGTGCCTACCTCTATCTGCTGTCAGCCCGCAACACCTCCCTCAACCCT c.420
Q N G D S A Y L Y L L S A R N T S L N P p.140
. . . . | 05 . . g.12315
CAGGAGCTGCAGCGGGAGCGGCAGCTGCGGATGCTGGAAG | ATCTGGGCTTCAAGGACCTC c.480
Q E L Q R E R Q L R M L E D | L G F K D L p.160
. . . . . . g.12375
ACGCTGCAGCCGCGGGGCCCTCTGGAGCCAGGCCCCCCAAAGCCCGGGGTCCCCCAGGAA c.540
T L Q P R G P L E P G P P K P G V P Q E p.180
. . . . | 06 . . g.12524
CCCGGACGGGGGCAGCCAGATGCAGTGCCTGAGCCCCCACCG | GTGGGCTGGCAGTGCCCC c.600
P G R G Q P D A V P E P P P | V G W Q C P p.200
. . . . . . g.12584
GGGTGCACCTTCATCAACAAGCCCACGCGGCCTGGCTGTGAGATGTGCTGCCGGGCGCGC c.660
G C T F I N K P T R P G C E M C C R A R p.220
. . . . . . g.12644
CCCGAGGCCTACCAGGTCCCCGCCTCATACCAGCCCGACGAGGAGGAGCGAGCGCGCCTG c.720
P E A Y Q V P A S Y Q P D E E E R A R L p.240
. . . | 07 . . . g.13843
GCGGGCGAGGAGGAGGCGCTGCGTCAGTACCAGCAG | CGGAAGCAGCAGCAGCAGGAGGGG c.780
A G E E E A L R Q Y Q Q | R K Q Q Q Q E G p.260
. . . . . . g.13903
AACTACCTGCAGCACGTCCAGCTGGACCAGAGGAGCCTGGTGCTGAACACGGAGCCCGCC c.840
N Y L Q H V Q L D Q R S L V L N T E P A p.280
. . . . . . g.13963
GAGTGCCCCGTGTGCTACTCGGTGCTGGCGCCCGGCGAGGCCGTGGTGCTGCGTGAGTGT c.900
E C P V C Y S V L A P G E A V V L R E C p.300
. | 08. . . . . g.15118
CTGCACACCTTCTGCAG | GGAGTGCCTGCAGGGCACCATCCGCAACAGCCAGGAGGCGGAG c.960
L H T F C R | E C L Q G T I R N S Q E A E p.320
. . . . . . g.15178
GTCTCCTGCCCCTTCATTGACAACACCTACTCGTGCTCGGGCAAGCTGCTGGAGAGGGAG c.1020
V S C P F I D N T Y S C S G K L L E R E p.340
| 09 . . . . . g.20312
ATCAAGGCG | CTCCTGACCCCTGAGGATTACCAGCGATTTCTAGACCTGGGCATCTCCATT c.1080
I K A | L L T P E D Y Q R F L D L G I S I p.360
. . . . . . g.20372
GCTGAAAACCGCAGTGCCTTCAGCTACCATTGCAAGACCCCAGATTGCAAGGGATGGTGC c.1140
A E N R S A F S Y H C K T P D C K G W C p.380
. . . . . . g.20432
TTCTTTGAGGATGATGTCAATGAGTTCACCTGCCCTGTGTGTTTCCACGTCAACTGCCTG c.1200
F F E D D V N E F T C P V C F H V N C L p.400
| 10 . . . . . g.21490
CTCTGCAAG | GCCATCCATGAGCAGATGAACTGCAAGGAGTATCAGGAGGACCTGGCCCTG c.1260
L C K | A I H E Q M N C K E Y Q E D L A L p.420
. . . . | 11 . g.21911
CGGGCTCAGAACGATGTGGCTGCCCGGCAGACGACAGAGATGCTGAAG | GTGATGCTGCAG c.1320
R A Q N D V A A R Q T T E M L K | V M L Q p.440
. . . . . . g.21971
CAGGGCGAGGCCATGCGCTGCCCCCAGTGCCAGATCGTGGTACAGAAGAAGGACGGCTGC c.1380
Q G E A M R C P Q C Q I V V Q K K D G C p.460
. . . . . . g.22031
GACTGGATCCGCTGCACCGTCTGCCACACCGAGATCTGCTGGGTCACCAAGGGCCCACGC c.1440
D W I R C T V C H T E I C W V T K G P R p.480
. | 12 . . . . . g.23346
TGGGGCCCTGGG | GGCCCAGGAGACACCAGCGGGGGCTGCCGCTGCAGGGTAAATGGGATT c.1500
W G P G | G P G D T S G G C R C R V N G I p.500
. . . g.23379
CCTTGCCACCCAAGCTGTCAGAACTGCCACTGA c.1533
P C H P S C Q N C H X p.510
. . . . . . g.23439
gctaaagatggtggggccacatgctgacccagccccacatccacattctgttagaatgta c.*60
. . . . . . g.23499
gctcagggagcttcgtggacggccttgcttgctgtagcgttgtaggggccctgcctgcac c.*120
. . . . . . g.23559
tgcggttgtccacggtcacatctgccccagtgcctttgtccttcccttggggcttgccgg c.*180
. . . . . . g.23619
ccagacttctctcccctgcggctcccacctctgcctgaccccagccttaaacatagcccc c.*240
. . . . . . g.23679
tggccagaggccttgctgggtggagcctctgtgtgactccatactcctcccaccacaaca c.*300
. . . . . . g.23739
ctcatctgtcaaacaccaagcactctcagcctccccgccttcagctgtcagctttctggg c.*360
. . . . . . g.23799
gctaacttctctgcctttgtggttggaggcctgaggcctcttggaactcttgctaacctg c.*420
. . . . . . g.23859
ttcagagccaggaaggagactgcacagttttgaaagcacagcccgtcaggtccggctctg c.*480
. . . . . g.23915
cgtctccctctctgcagcctgtgtaagctattataattaaaatggttttccgggaa c.*536
(downstream sequence)
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