(used for variant description)
(last modified August 28, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000071.2 in the CBS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008938.1, covering CBS transcript NM_000071.2.
(upstream sequence)
g.5005
acatt c.-241
. . . . . . g.5065
ggccggcgccggcctccgcccccgcctctccgccaatcaccgcccgcctgctcccctcgc c.-181
. . . . . . g.5125
cgtgggtccccgcgaggccgccaccccggggtcgccgtctccgcctcgccgcagtcgggg c.-121
. . . . | 02 . . g.7613
cagccgctcgcccctcttttccatgtatccgtccag | gatcccatgacagattctgttgtc c.-61
. . . . . . | 03 g.8737
acgtctccttacagagtttgagcggtgctgaactgtcagcaccatctgtccg | gtcccagc c.-1
. . . . . . g.8797
ATGCCTTCTGAGACCCCCCAGGCAGAAGTGGGGCCCACAGGCTGCCCCCACCGCTCAGGG c.60
M P S E T P Q A E V G P T G C P H R S G p.20
. . . . . . g.8857
CCACACTCGGCGAAGGGGAGCCTGGAGAAGGGGTCCCCAGAGGATAAGGAAGCCAAGGAG c.120
P H S A K G S L E K G S P E D K E A K E p.40
. . . . . . g.8917
CCCCTGTGGATCCGGCCCGATGCTCCGAGCAGGTGCACCTGGCAGCTGGGCCGGCCTGCC c.180
P L W I R P D A P S R C T W Q L G R P A p.60
. . | 04 . . . g.12346
TCCGAGTCCCCACATCACCACACTGCCCC | GGCAAAATCTCCAAAAATCTTGCCAGATATT c.240
S E S P H H H T A P | A K S P K I L P D I p.80
. . . . . . g.12406
CTGAAGAAAATCGGGGACACCCCTATGGTCAGAATCAACAAGATTGGGAAGAAGTTCGGC c.300
L K K I G D T P M V R I N K I G K K F G p.100
. | 05 . . . . . g.14597
CTGAAGTGTGAGCTCT | TGGCCAAGTGTGAGTTCTTCAACGCGGGCGGGAGCGTGAAGGAC c.360
L K C E L L | A K C E F F N A G G S V K D p.120
. . . . . . g.14657
CGCATCAGCCTGCGGATGATTGAGGATGCTGAGCGCGACGGGACGCTGAAGCCCGGGGAC c.420
R I S L R M I E D A E R D G T L K P G D p.140
. . . | 06 . . . g.15264
ACGATTATCGAGCCGACATCCGGGAACACCG | GGATCGGGCTGGCCCTGGCTGCGGCAGTG c.480
T I I E P T S G N T G | I G L A L A A A V p.160
. . . . . | 07 . g.15418
AGGGGCTATCGCTGCATCATCGTGATGCCAGAGAAGATGAGCTCCGAGAAG | GTGGACGTG c.540
R G Y R C I I V M P E K M S S E K | V D V p.180
. . . . . . g.15478
CTGCGGGCACTGGGGGCTGAGATTGTGAGGACGCCCACCAATGCCAGGTTCGACTCCCCG c.600
L R A L G A E I V R T P T N A R F D S P p.200
. . . . . . g.15538
GAGTCACACGTGGGGGTGGCCTGGCGGCTGAAGAACGAAATCCCCAATTCTCACATCCTA c.660
E S H V G V A W R L K N E I P N S H I L p.220
| 08 . . . . . . g.15712
GACCAG | TACCGCAACGCCAGCAACCCCCTGGCTCACTACGACACCACCGCTGATGAGATC c.720
D Q | Y R N A S N P L A H Y D T T A D E I p.240
. | 09 . . . . . g.16983
CTGCAGCAGTGTGATG | GGAAGCTGGACATGCTGGTGGCTTCAGTGGGCACGGGCGGCACC c.780
L Q Q C D G | K L D M L V A S V G T G G T p.260
. . . . | 10 . g.17864
ATCACGGGCATTGCCAGGAAGCTGAAGGAGAAGTGTCCTGGATGCAGG | ATCATTGGGGTG c.840
I T G I A R K L K E K C P G C R | I I G V p.280
. . . . . . g.17924
GATCCCGAAGGGTCCATCCTCGCAGAGCCGGAGGAGCTGAACCAGACGGAGCAGACAACC c.900
D P E G S I L A E P E E L N Q T E Q T T p.300
. . . . . | 11 . g.18541
TACGAGGTGGAAGGGATCGGCTACGACTTCATCCCCACGGTGCTGGACAGGACG | GTGGTG c.960
Y E V E G I G Y D F I P T V L D R T | V V p.320
. . . . . . g.18601
GACAAGTGGTTCAAGAGCAACGATGAGGAGGCGTTCACCTTTGCCCGCATGCTGATCGCG c.1020
D K W F K S N D E E A F T F A R M L I A p.340
. | 12 . . . . g.20425
CAAGAGGGGCTGCTGTGCG | GTGGCAGTGCTGGCAGCACGGTGGCGGTGGCCGTGAAGGCC c.1080
Q E G L L C G | G S A G S T V A V A V K A p.360
. . . . . . g.20485
GCGCAGGAGCTGCAGGAGGGCCAGCGCTGCGTGGTCATTCTGCCCGACTCAGTGCGGAAC c.1140
A Q E L Q E G Q R C V V I L P D S V R N p.380
| 13 . . . . . . g.21682
TACAT | GACCAAGTTCCTGAGCGACAGGTGGATGCTGCAGAAGGGCTTTCTGAAGGAGGAG c.1200
Y M | T K F L S D R W M L Q K G F L K E E p.400
. . | 14 . . . . g.21999
GACCTCACGGAGAAGAAGCCCTG | GTGGTGGCACCTCCGTGTTCAGGAGCTGGGCCTGTCA c.1260
D L T E K K P W | W W H L R V Q E L G L S p.420
. . . . . . g.22059
GCCCCGCTGACCGTGCTCCCGACCATCACCTGTGGGCACACCATCGAGATCCTCCGGGAG c.1320
A P L T V L P T I T C G H T I E I L R E p.440
. . . | 15 . . g.22699
AAGGGCTTCGACCAGGCGCCCGTGGTGGATGAGGCGGG | GGTAATCCTGGGAATGGTGACG c.1380
K G F D Q A P V V D E A G | V I L G M V T p.460
. . . . . . g.22759
CTTGGGAACATGCTCTCGTCCCTGCTTGCCGGGAAGGTGCAGCCGTCAGACCAAGTTGGC c.1440
L G N M L S S L L A G K V Q P S D Q V G p.480
. . | 16. . . . g.24076
AAAGTCATCTACAAGCAGTTCAAACAG | ATCCGCCTCACGGACACGCTGGGCAGGCTCTCG c.1500
K V I Y K Q F K Q | I R L T D T L G R L S p.500
. . . . . | 17 . g.26955
CACATCCTGGAGATGGACCACTTCGCCCTGGTGGTGCACGAGCAGATCCAGT | ACCACAGC c.1560
H I L E M D H F A L V V H E Q I Q Y | H S p.520
. . . . . . g.27015
ACCGGGAAGTCCAGTCAGCGGCAGATGGTGTTCGGGGTGGTCACCGCCATTGACTTGCTG c.1620
T G K S S Q R Q M V F G V V T A I D L L p.540
. . . g.27051
AACTTCGTGGCCGCCCAGGAGCGGGACCAGAAGTGA c.1656
N F V A A Q E R D Q K X p.551
. . . . . . g.27111
agtccggagcgctgggcggtgcggagcgggcccgccacccttgcccacttctccttcgct c.*60
. . . . . . g.27171
ttcctgagccctaaacacacgcgtgattggtaactgcctggcctggcaccgttatccctg c.*120
. . . . . . g.27231
cacacggcacagagcatccgtctcccctcgttaacacatggcttcctaaatggccctgtt c.*180
. . . . . . g.27291
tacggcctatgagatgaaatatgtgattttctctaatgtaacttcctcttaggatgtttc c.*240
. . . . . . g.27351
accaaggaaatattgagagagaagtcggccaggtaggatgaacacaggcaatgactgcgc c.*300
. . . . . . g.27411
agagtggattaaaggcaaaagagagaagagtccaggaaggggcggggagaagcctgggtg c.*360
. . . . . . g.27471
gctcagcatcctccacgggctgcgccgtctgctcggggctgagctggcgggagcagtttg c.*420
. . . . . . g.27531
cgtgtttgggttttttaattgagatgaaattcaaataacctaaaaatcaatcacttgaaa c.*480
. . . . . . g.27591
gtgaacaatcagcggcatttagtacatccagaaagttgtgtaggcaccacctctgtcacg c.*540
. . . . . . g.27651
ttctggaacattctgtcatcaccccgtgaagcaatcatttcccctcccgtcttcctcctc c.*600
. . . . . . g.27711
ccctggcaactgctgatcgactttgtgtctctgttgtctaaaataggttttccctgttct c.*660
. . g.27740
ggacatttcatataaatggaatcacacaa c.*689
(downstream sequence)
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