(used for mutation description)
(last modified April 30, 2014)
This file was created to facilitate the description of sequence variants in the CYBB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering CYBB transcript NM_000397.3.
(upstream sequence)
g.1001
a c.-61
. . . . . . g.1061
ttggaagaagaagcatagtatagaagaaaggcaaacacaacacattcaacctctgccacc c.-1
. . . . | 02 . . g.3086
ATGGGGAACTGGGCTGTGAATGAGGGGCTCTCCATTTTTGTCATT | CTGGTTTGGCTGGGG c.60
M G N W A V N E G L S I F V I | L V W L G p.20
. . . . . . g.3146
TTGAACGTCTTCCTCTTTGTCTGGTATTACCGGGTTTATGATATTCCACCTAAGTTCTTT c.120
L N V F L F V W Y Y R V Y D I P P K F F p.40
. . | 03 . . . . g.4512
TACACAAGAAAACTTCTTGGG | TCAGCACTGGCACTGGCCAGGGCCCCTGCAGCCTGCCTG c.180
Y T R K L L G | S A L A L A R A P A A C L p.60
. . . . . . g.4572
AATTTCAACTGCATGCTGATTCTCTTGCCAGTCTGTCGAAATCTGCTGTCCTTCCTCAGG c.240
N F N C M L I L L P V C R N L L S F L R p.80
. | 04 . . . . . g.13006
GGTTCCAGTGCG | TGCTGCTCAACAAGAGTTCGAAGACAACTGGACAGGAATCTCACCTTT c.300
G S S A | C C S T R V R R Q L D R N L T F p.100
. . . | 05. . . g.14671
CATAAAATGGTGGCATGGATGATTGCACTTCACTCTG | CGATTCACACCATTGCACATCTA c.360
H K M V A W M I A L H S A | I H T I A H L p.120
. . . . . . g.14731
TTTAATGTGGAATGGTGTGTGAATGCCCGAGTCAATAATTCTGATCCTTATTCAGTAGCA c.420
F N V E W C V N A R V N N S D P Y S V A p.140
. . . . . . g.14791
CTCTCTGAACTTGGAGACAGGCAAAATGAAAGTTATCTCAATTTTGCTCGAAAGAGAATA c.480
L S E L G D R Q N E S Y L N F A R K R I p.160
| 06 . . . . . . g.16991
AAG | AACCCTGAAGGAGGCCTGTACCTGGCTGTGACCCTGTTGGCAGGCATCACTGGAGTT c.540
K | N P E G G L Y L A V T L L A G I T G V p.180
. . . . . . g.17051
GTCATCACGCTGTGCCTCATATTAATTATCACTTCCTCCACCAAAACCATCCGGAGGTCT c.600
V I T L C L I L I I T S S T K T I R R S p.200
. . . . . . g.17111
TACTTTGAAGTCTTTTGGTACACACATCATCTCTTTGTGATCTTCTTCATTGGCCTTGCC c.660
Y F E V F W Y T H H L F V I F F I G L A p.220
. | 07 . . . . . g.19984
ATCCATGGAGCTGA | ACGAATTGTACGTGGGCAGACCGCAGAGAGTTTGGCTGTGCATAAT c.720
I H G A E | R I V R G Q T A E S L A V H N p.240
. . . . . . g.20044
ATAACAGTTTGTGAACAAAAAATCTCAGAATGGGGAAAAATAAAGGAATGCCCAATCCCT c.780
I T V C E Q K I S E W G K I K E C P I P p.260
. . | 08 . . . . g.22275
CAGTTTGCTGGAAACCCTCCTATG | ACTTGGAAATGGATAGTGGGTCCCATGTTTCTGTAT c.840
Q F A G N P P M | T W K W I V G P M F L Y p.280
. . . . . | 09. g.24863
CTCTGTGAGAGGTTGGTGCGGTTTTGGCGATCTCAACAGAAGGTGGTCATCACCAAG | GTG c.900
L C E R L V R F W R S Q Q K V V I T K | V p.300
. . . . . . g.24923
GTCACTCACCCTTTCAAAACCATCGAGCTACAGATGAAGAAGAAGGGGTTCAAAATGGAA c.960
V T H P F K T I E L Q M K K K G F K M E p.320
. . . . . . g.24983
GTGGGACAATACATTTTTGTCAAGTGCCCAAAGGTGTCCAAGCTGGAGTGGCACCCTTTT c.1020
V G Q Y I F V K C P K V S K L E W H P F p.340
. . . . . . g.25043
ACACTGACATCCGCCCCTGAGGAAGACTTCTTTAGTATCCATATCCGCATCGTTGGGGAC c.1080
T L T S A P E E D F F S I H I R I V G D p.360
. . . . . . g.25103
TGGACAGAGGGGCTGTTCAATGCTTGTGGCTGTGATAAGCAGGAGTTTCAAGATGCGTGG c.1140
W T E G L F N A C G C D K Q E F Q D A W p.380
. | 10 . . . . . g.26038
AAACTACCTAA | GATAGCGGTTGATGGGCCCTTTGGCACTGCCAGTGAAGATGTGTTCAGC c.1200
K L P K | I A V D G P F G T A S E D V F S p.400
. . . . . . g.26098
TATGAGGTGGTGATGTTAGTGGGAGCAGGGATTGGGGTCACACCCTTCGCATCCATTCTC c.1260
Y E V V M L V G A G I G V T P F A S I L p.420
. . . . . | 11 . g.27376
AAGTCAGTCTGGTACAAATATTGCAATAACGCCACCAATCTGAAGCTCAAAAAG | ATCTAC c.1320
K S V W Y K Y C N N A T N L K L K K | I Y p.440
. . . . . . g.27436
TTCTACTGGCTGTGCCGGGACACACATGCCTTTGAGTGGTTTGCAGATCTGCTGCAACTG c.1380
F Y W L C R D T H A F E W F A D L L Q L p.460
. . . . . . g.27496
CTGGAGAGCCAGATGCAGGAAAGGAACAATGCCGGCTTCCTCAGCTACAACATCTACCTC c.1440
L E S Q M Q E R N N A G F L S Y N I Y L p.480
. . | 12 . . . . g.30589
ACTGGCTGGGATGAGTCTCAG | GCCAATCACTTTGCTGTGCACCATGATGAGGAGAAAGAT c.1500
T G W D E S Q | A N H F A V H H D E E K D p.500
. . . . . . g.30649
GTGATCACAGGCCTGAAACAAAAGACTTTGTATGGACGGCCCAACTGGGATAATGAATTC c.1560
V I T G L K Q K T L Y G R P N W D N E F p.520
. . | 13 . . . . g.31808
AAGACAATTGCAAGTCAACACCCTAA | TACCAGAATAGGAGTTTTCCTCTGTGGACCTGAA c.1620
K T I A S Q H P N | T R I G V F L C G P E p.540
. . . . . . g.31868
GCCTTGGCTGAAACCCTGAGTAAACAAAGCATCTCCAACTCTGAGTCTGGCCCTCGGGGA c.1680
A L A E T L S K Q S I S N S E S G P R G p.560
. . . g.31901
GTGCATTTCATTTTCAACAAGGAAAACTTCTAA c.1713
V H F I F N K E N F X p.570
. . . . . . g.31961
cttgtctcttccatgaggaaataaatgtgggttgtgctgccaaatgctcaaataatgcta c.*60
. . . . . . g.32021
attgataatataaataccccctgcttaaaaatggacaaaaagaaactataatgtaatggt c.*120
. . . . . . g.32081
tttcccttaaaggaatgtcaaagattgtttgatagtgataagttacatttatgtggagct c.*180
. . . . . . g.32141
ctatggttttgagagcacttttacaaacattatttcatttttttcctctcagtaatgtca c.*240
. . . . . . g.32201
gtggaagttagggaaaagattcttggactcaattttagaatcaaaagggaaaggatcaaa c.*300
. . . . . . g.32261
aggttcagtaacttccctaagattatgaaactgtgaccagatctagcccatcttactcca c.*360
. . . . . . g.32321
ggtttgatactctttccacaatactgagctgcctcagaatcctcaaaatcagtttttata c.*420
. . . . . . g.32381
ttccccaaaagaagaaggaaaccaaggagtagctatatatttctactttgtgtcattttt c.*480
. . . . . . g.32441
gccatcattattatcatactgaaggaaattttccagatcattaggacataatacatgttg c.*540
. . . . . . g.32501
agagtgtctcaacacttattagtgacagtattgacatctgagcatactccagtttactaa c.*600
. . . . . . g.32561
tacagcagggtaactgggccagatgttctttctacagaagaatattggattgattggagt c.*660
. . . . . . g.32621
taatgtaatactcatcatttaccactgtgcttggcagagagcggatactcaagtaagttt c.*720
. . . . . . g.32681
tgttaaatgaatgaatgaatttagaaccacacaatgccaagatagaattaatttaaagcc c.*780
. . . . . . g.32741
ttaaacaaaatttatctaaagaaataacttctattactgtcatagaccaaaggaatctga c.*840
. . . . . . g.32801
ttctccctagggtcaagaacaggctaaggatactaaccaataggattgcctgaagggttc c.*900
. . . . . . g.32861
tgcacattcttatttgaagcatgaaaaaagagggttggaggtggagaattaacctcctgc c.*960
. . . . . . g.32921
catgactctggctcatctagtcctgctccttgtgctataaaataaatgcagactaatttc c.*1020
. . . . . . g.32981
ctgcccaaagtggtcttctccagctagcccttatgaatattgaacttaggaattgtgaca c.*1080
. . . . . . g.33041
aatatgtatctgatatggtcatttgttttaaataacacccaccccttattttccgtaaat c.*1140
. . . . . . g.33101
acacacacaaaatggatcgcatctgtgtgactaatggtttatttgtattatatcatcatc c.*1200
. . . . . . g.33161
atcatcctaaaattaacaacccagaaacaaaaatctctatacagagatcaaattcacact c.*1260
. . . . . . g.33221
caatagtatgttctgaatatatgttcaagagagagtctctaaatcactgttagtgtggcc c.*1320
. . . . . . g.33281
aagagcagggttttctttttgttcttagaactgctcccatttctgggaactaaaaccagt c.*1380
. . . . . . g.33341
tttatttgccccaccccttggagccacaaatgtttagaactcttcaacttcggtaatgag c.*1440
. . . . . . g.33401
gaagaaggagaaagagctgggggaagggcagaagactggtttaggaggaaaaggaaataa c.*1500
. . . . . . g.33461
ggagaaaagagaatgggagagtgagagaaaataaaaaaggcaaaagggagagagagggga c.*1560
. . . . . . g.33521
agggggtctcatattggtcattccctgccccagatttcttaaagtttgatatgtatagaa c.*1620
. . . . . . g.33581
tataattgaaggaggtatacacatattgatgttgttttgattatctatggtattgaatct c.*1680
. . . . . . g.33641
tttaaaatctggtcacaaattttgatgctgagggggattattcaagggactaggatgaac c.*1740
. . . . . . g.33701
taaataagaactcagttgttctttgtcatactactattcctttcgtctcccagaatcctc c.*1800
. . . . . . g.33761
agggcactgagggtaggtctgacaaataaggcctgctgtgcgaatatagcctttctgaaa c.*1860
. . . . . . g.33821
tgtaccaggatggtttctgcttagagacacttaggtccagcctgttcacactgcacctca c.*1920
. . . . . . g.33881
ggtatcaattcatctattcaacagatatttattgtgttattactatgagtcaggctctgt c.*1980
. . . . . . g.33941
ttattgtttcaattctttacaccaaagtatgaactggagagggtacctcagttataagga c.*2040
. . . . . . g.34001
gtctgagaatattggccctttctaacctatgtgcataattaaaaccagcttcatttgttg c.*2100
. . . . . . g.34061
ctccgagagtgtttctccaaggttttctatcttcaaaaccaactaagttatgaaagtaga c.*2160
. . . . . . g.34121
gagatctgccctgtgttatccagttatgagataaaaaatgaatataagagtgcttgtcat c.*2220
. . . . . . g.34181
tataaaagtttccttttttattctctcaagccaccagctgccagccaccagcagccagct c.*2280
. . . . . . g.34241
gccagcctagctttttttttttttttttttttttagcacttagtatttagcatttattaa c.*2340
. . . . . . g.34301
caggtactctaagaatgatgaagcattgtttttaatcttaagactatgaaggtttttctt c.*2400
. . . . . . g.34361
agttcttctgcttttgcaattgtgtttgtgaaatttgaatacttgcaggctttgtatgtg c.*2460
. . . . . . g.34421
aataattctagcgggggacctgggagataattcctacggggaattcttaaaactgtgctc c.*2520
. . g.34445
aactattaaaatgaatgagctttc c.*2544
(downstream sequence)
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