(used for mutation description)
(last modified April 25, 2014)
This file was created to facilitate the description of sequence variants in the BLM gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering BLM transcript NM_000057.2.
(upstream sequence)
. . . g.1037
ggcgggaagtgagccagggcttggcgcggcggccgtg c.-61
. . . . . . | 02 g.31044
gttgcggcgcgggaagtttggatcctggttccgtccgctaggagtctgcgtgcgag | gatt c.-1
. . . . . . g.31104
ATGGCTGCTGTTCCTCAAAATAATCTACAGGAGCAACTAGAACGTCACTCAGCCAGAACA c.60
M A A V P Q N N L Q E Q L E R H S A R T p.20
. . . | 03 . . g.33040
CTTAATAATAAATTAAGTCTTTCAAAACCAAAATTTTC | AGGTTTCACTTTTAAAAAGAAA c.120
L N N K L S L S K P K F S | G F T F K K K p.40
. . . . . . g.33100
ACATCTTCAGATAACAATGTATCTGTAACTAATGTGTCAGTAGCAAAAACACCTGTATTA c.180
T S S D N N V S V T N V S V A K T P V L p.60
. . . . . . g.33160
AGAAATAAAGATGTTAATGTTACCGAAGACTTTTCCTTCAGTGAACCTCTACCCAACACC c.240
R N K D V N V T E D F S F S E P L P N T p.80
. . . . . . g.33220
ACAAATCAGCAAAGGGTCAAGGACTTCTTTAAAAATGCTCCAGCAGGACAGGAAACACAG c.300
T N Q Q R V K D F F K N A P A G Q E T Q p.100
. . . . . . g.33280
AGAGGTGGATCAAAATCATTATTGCCAGATTTCTTGCAGACTCCGAAGGAAGTTGTATGC c.360
R G G S K S L L P D F L Q T P K E V V C p.120
. . . . . . g.33340
ACTACCCAAAACACACCAACTGTAAAGAAATCCCGGGATACTGCTCTCAAGAAATTAGAA c.420
T T Q N T P T V K K S R D T A L K K L E p.140
. . . . . . g.33400
TTTAGTTCTTCACCAGATTCTTTAAGTACCATCAATGATTGGGATGATATGGATGACTTT c.480
F S S S P D S L S T I N D W D D M D D F p.160
. . . . . . g.33460
GATACTTCTGAGACTTCAAAATCATTTGTTACACCACCCCAAAGTCACTTTGTAAGAGTA c.540
D T S E T S K S F V T P P Q S H F V R V p.180
. . . . . . g.33520
AGCACTGCTCAGAAATCAAAAAAGGGTAAGAGAAACTTTTTTAAAGCACAGCTTTATACA c.600
S T A Q K S K K G K R N F F K A Q L Y T p.200
. . . . . . g.33580
ACAAACACAGTAAAGACTGATTTGCCTCCACCCTCCTCTGAAAGCGAGCAAATAGATTTG c.660
T N T V K T D L P P P S S E S E Q I D L p.220
. . . . . . g.33640
ACTGAGGAACAGAAGGATGACTCAGAATGGTTAAGCAGCGATGTGATTTGCATCGATGAT c.720
T E E Q K D D S E W L S S D V I C I D D p.240
. . . . . . g.33700
GGCCCCATTGCTGAAGTGCATATAAATGAAGATGCTCAGGAAAGTGACTCTCTGAAAACT c.780
G P I A E V H I N E D A Q E S D S L K T p.260
. | 04 . . . . g.35479
CATTTGGAAGATGAAAGAG | ATAATAGCGAAAAGAAGAAGAATTTGGAAGAAGCTGAATTA c.840
H L E D E R D | N S E K K K N L E E A E L p.280
. . . . . . g.35539
CATTCAACTGAGAAAGTTCCATGTATTGAATTTGATGATGATGATTATGATACGGATTTT c.900
H S T E K V P C I E F D D D D Y D T D F p.300
. . . . . | 05 g.38463
GTTCCACCTTCTCCAGAAGAAATTATTTCTGCTTCTTCTTCCTCTTCAAAATGCCTTAG | T c.960
V P P S P E E I I S A S S S S S K C L S | p.320
. . . . . . g.38523
ACGTTAAAGGACCTTGACACCTCTGACAGAAAAGAGGATGTTCTTAGCACATCAAAAGAT c.1020
T L K D L D T S D R K E D V L S T S K D p.340
. . . . . . g.38583
CTTTTGTCAAAACCTGAGAAAATGAGTATGCAGGAGCTGAATCCAGAAACCAGCACAGAC c.1080
L L S K P E K M S M Q E L N P E T S T D p.360
| 06. . . . . . g.43851
TGTGACG | CTAGACAGATAAGTTTACAGCAGCAGCTTATTCATGTGATGGAGCACATCTGT c.1140
C D A | R Q I S L Q Q Q L I H V M E H I C p.380
. . . . . . g.43911
AAATTAATTGATACTATTCCTGATGATAAACTGAAACTTTTGGATTGTGGGAACGAACTG c.1200
K L I D T I P D D K L K L L D C G N E L p.400
. . | 07 . . . . g.44285
CTTCAGCAGCGGAACATAAG | AAGGAAACTTCTAACGGAAGTAGATTTTAATAAAAGTGAT c.1260
L Q Q R N I R | R K L L T E V D F N K S D p.420
. . . . . . g.44345
GCCAGTCTTCTTGGCTCATTGTGGAGATACAGGCCTGATTCACTTGATGGCCCTATGGAG c.1320
A S L L G S L W R Y R P D S L D G P M E p.440
. . . . . . g.44405
GGTGATTCCTGCCCTACAGGGAATTCTATGAAGGAGTTAAATTTTTCACACCTTCCCTCA c.1380
G D S C P T G N S M K E L N F S H L P S p.460
. . . . . . g.44465
AATTCTGTTTCTCCTGGGGACTGTTTACTGACTACCACCCTAGGAAAGACAGGATTCTCT c.1440
N S V S P G D C L L T T T L G K T G F S p.480
. . . . . . g.44525
GCCACCAGGAAGAATCTTTTTGAAAGGCCTTTATTCAATACCCATTTACAGAAGTCCTTT c.1500
A T R K N L F E R P L F N T H L Q K S F p.500
. . . . . . g.44585
GTAAGTAGCAACTGGGCTGAAACACCAAGACTAGGAAAAAAAAATGAAAGCTCTTATTTC c.1560
V S S N W A E T P R L G K K N E S S Y F p.520
. . . . . . g.44645
CCAGGAAATGTTCTCACAAGCACTGCTGTGAAAGATCAGAATAAACATACTGCTTCAATA c.1620
P G N V L T S T A V K D Q N K H T A S I p.540
. . . . . . g.44705
AATGACTTAGAAAGAGAAACCCAACCTTCCTATGATATTGATAATTTTGACATAGATGAC c.1680
N D L E R E T Q P S Y D I D N F D I D D p.560
. . . . . . g.44765
TTTGATGATGATGATGACTGGGAAGACATAATGCATAATTTAGCAGCCAGCAAATCTTCC c.1740
F D D D D D W E D I M H N L A A S K S S p.580
. . . . . . g.44825
ACAGCTGCCTATCAACCCATCAAGGAAGGTCGGCCAATTAAATCAGTATCAGAAAGACTT c.1800
T A A Y Q P I K E G R P I K S V S E R L p.600
. . . . . . g.44885
TCCTCAGCCAAGACAGACTGTCTTCCAGTGTCATCTACTGCTCAAAATATAAACTTCTCA c.1860
S S A K T D C L P V S S T A Q N I N F S p.620
. . | 08 . . . . g.46655
GAGTCAATTCAGAATTATACTG | ACAAGTCAGCACAAAATTTAGCATCCAGAAATCTGAAA c.1920
E S I Q N Y T D | K S A Q N L A S R N L K p.640
. . . . . . g.46715
CATGAGCGTTTCCAAAGTCTTAGTTTTCCTCATACAAAGGAAATGATGAAGATTTTTCAT c.1980
H E R F Q S L S F P H T K E M M K I F H p.660
. . . . . . g.46775
AAAAAATTTGGCCTGCATAATTTTAGAACTAATCAGCTAGAGGCGATCAATGCTGCACTG c.2040
K K F G L H N F R T N Q L E A I N A A L p.680
. . . | 09 . . . g.48973
CTTGGTGAAGACTGTTTTATCCTGATGCCGACTG | GAGGTGGTAAGAGTTTGTGTTACCAG c.2100
L G E D C F I L M P T G | G G K S L C Y Q p.700
. . . . . . g.49033
CTCCCTGCCTGTGTTTCTCCTGGGGTCACTGTTGTCATTTCTCCCTTGAGATCACTTATC c.2160
L P A C V S P G V T V V I S P L R S L I p.720
. . . | 10 . . . g.50588
GTAGATCAAGTCCAAAAGCTGACTTCCTTGGAT | ATTCCAGCTACATATCTGACAGGTGAT c.2220
V D Q V Q K L T S L D | I P A T Y L T G D p.740
. . . . . . g.50648
AAGACTGACTCAGAAGCTACAAATATTTACCTCCAGTTATCAAAAAAAGACCCAATCATA c.2280
K T D S E A T N I Y L Q L S K K D P I I p.760
. . | 11. . . . g.52817
AAACTTCTATATGTCACTCCAGAAAAG | ATCTGTGCAAGTAACAGACTCATTTCTACTCTG c.2340
K L L Y V T P E K | I C A S N R L I S T L p.780
. . . . . . g.52877
GAGAATCTCTATGAGAGGAAGCTCTTGGCACGTTTTGTTATTGATGAAGCACATTGTGTC c.2400
E N L Y E R K L L A R F V I D E A H C V p.800
| 12 . . . . . . g.53143
AGTCAG | TGGGGACATGATTTTCGTCAAGATTACAAAAGAATGAATATGCTTCGCCAGAAG c.2460
S Q | W G H D F R Q D Y K R M N M L R Q K p.820
. . . . . . g.53203
TTTCCTTCTGTTCCGGTGATGGCTCTTACGGCCACAGCTAATCCCAGGGTACAGAAGGAC c.2520
F P S V P V M A L T A T A N P R V Q K D p.840
. . . | 13 . . . g.66498
ATCCTGACTCAGCTGAAGATTCTCAGACCTCAGGT | GTTTAGCATGAGCTTTAACAGACAT c.2580
I L T Q L K I L R P Q V | F S M S F N R H p.860
. . . . . . g.66558
AATCTGAAATACTATGTATTACCGAAAAAGCCTAAAAAGGTGGCATTTGATTGCCTAGAA c.2640
N L K Y Y V L P K K P K K V A F D C L E p.880
. . | 14 . . . . g.68610
TGGATCAGAAAGCACCACCCAT | ATGATTCAGGGATAATTTACTGCCTCTCCAGGCGAGAA c.2700
W I R K H H P Y | D S G I I Y C L S R R E p.900
. . . . . . g.68670
TGTGACACCATGGCTGACACGTTACAGAGAGATGGGCTCGCTGCTCTTGCTTACCATGCT c.2760
C D T M A D T L Q R D G L A A L A Y H A p.920
. . . . . . g.68730
GGCCTCAGTGATTCTGCCAGAGATGAAGTGCAGCAGAAGTGGATTAATCAGGATGGCTGT c.2820
G L S D S A R D E V Q Q K W I N Q D G C p.940
| 15 . . . . . . g.74357
CAG | GTTATCTGTGCTACAATTGCATTTGGAATGGGGATTGACAAACCGGACGTGCGATTT c.2880
Q | V I C A T I A F G M G I D K P D V R F p.960
. . . . . . g.74417
GTGATTCATGCATCTCTCCCTAAATCTGTGGAGGGTTACTACCAAGAATCTGGCAGAGCT c.2940
V I H A S L P K S V E G Y Y Q E S G R A p.980
. . . . . . g.74477
GGAAGAGATGGGGAAATATCTCACTGCCTGCTTTTCTATACCTATCATGATGTGACCAGA c.3000
G R D G E I S H C L L F Y T Y H D V T R p.1000
. | 16 . . . . g.77859
CTGAAAAGACTTATAATGA | TGGAAAAAGATGGAAACCATCATACAAGAGAAACTCACTTC c.3060
L K R L I M M | E K D G N H H T R E T H F p.1020
. . . . . . g.77919
AATAATTTGTATAGCATGGTACATTACTGTGAAAATATAACGGAATGCAGGAGAATACAG c.3120
N N L Y S M V H Y C E N I T E C R R I Q p.1040
. . . . . . g.77979
CTTTTGGCCTACTTTGGTGAAAATGGATTTAATCCTGATTTTTGTAAGAAACACCCAGAT c.3180
L L A Y F G E N G F N P D F C K K H P D p.1060
. . . | 17 . . . g.81871
GTTTCTTGTGATAATTGCTGTAAAACAAAG | GATTATAAAACAAGAGATGTGACTGACGAT c.3240
V S C D N C C K T K | D Y K T R D V T D D p.1080
. . . . . . g.81931
GTGAAAAGTATTGTAAGATTTGTTCAAGAACATAGTTCATCACAAGGAATGAGAAATATA c.3300
V K S I V R F V Q E H S S S Q G M R N I p.1100
. . . . . | 18 g.87174
AAACATGTAGGTCCTTCTGGAAGATTTACTATGAATATGCTGGTCGACATTTTCTTGG | GG c.3360
K H V G P S G R F T M N M L V D I F L G | p.1120
. . . . . . g.87234
AGTAAGAGTGCAAAAATCCAGTCAGGTATATTTGGAAAAGGATCTGCTTATTCACGACAC c.3420
S K S A K I Q S G I F G K G S A Y S R H p.1140
. . . . . . g.87294
AATGCCGAAAGACTTTTTAAAAAGCTGATACTTGACAAGATTTTGGATGAAGACTTATAT c.3480
N A E R L F K K L I L D K I L D E D L Y p.1160
. . . . . . g.87354
ATCAATGCCAATGACCAGGCGATCGCTTATGTGATGCTCGGAAATAAAGCCCAAACTGTA c.3540
I N A N D Q A I A Y V M L G N K A Q T V p.1180
. | 19 . . . . g.87860
CTAAATGGCAATTTAAAG | GTAGACTTTATGGAAACAGAAAATTCCAGCAGTGTGAAAAAA c.3600
L N G N L K | V D F M E T E N S S S V K K p.1200
. . . . . . g.87920
CAAAAAGCGTTAGTAGCAAAAGTGTCTCAGAGGGAAGAGATGGTTAAAAAATGTCTTGGA c.3660
Q K A L V A K V S Q R E E M V K K C L G p.1220
. . . . . . g.87980
GAACTTACAGAAGTCTGCAAATCTCTGGGGAAAGTTTTTGGTGTCCATTACTTCAATATT c.3720
E L T E V C K S L G K V F G V H Y F N I p.1240
. . . | 20 . . . g.92817
TTTAATACCGTCACTCTCAAGAAGCTTGCAG | AATCTTTATCTTCTGATCCTGAGGTTTTG c.3780
F N T V T L K K L A E | S L S S D P E V L p.1260
. . . . . . g.92877
CTTCAAATTGATGGTGTTACTGAAGACAAACTGGAAAAATATGGTGCGGAAGTGATTTCA c.3840
L Q I D G V T E D K L E K Y G A E V I S p.1280
. . . | 21 . . . g.94882
GTATTACAGAAATACTCTGAATGGACATCGCCAG | CTGAAGACAGTTCCCCAGGGATAAGC c.3900
V L Q K Y S E W T S P A | E D S S P G I S p.1300
. . . . . . g.94942
CTGTCCAGCAGCAGAGGCCCCGGAAGAAGTGCCGCTGAGGAGCTCGACGAGGAAATACCC c.3960
L S S S R G P G R S A A E E L D E E I P p.1320
. . . . . . g.95002
GTATCTTCCCACTACTTTGCAAGTAAAACCAGAAATGAAAGGAAGAGGAAAAAGATGCCA c.4020
V S S H Y F A S K T R N E R K R K K M P p.1340
. . . . . | 22 . g.98757
GCCTCCCAAAGGTCTAAGAGGAGAAAAACTGCTTCCAGTGGTTCCAAGGCAAAGGG | GGGG c.4080
A S Q R S K R R K T A S S G S K A K G | G p.1360
. . . . . . g.98817
TCTGCCACATGTAGAAAGATATCTTCCAAAACGAAATCCTCCAGCATCATTGGATCCAGT c.4140
S A T C R K I S S K T K S S S I I G S S p.1380
. . . . . . g.98877
TCAGCCTCACATACTTCTCAAGCGACATCAGGAGCCAATAGCAAATTGGGGATTATGGCT c.4200
S A S H T S Q A T S G A N S K L G I M A p.1400
. . . . . g.98931
CCACCGAAGCCTATAAATAGACCGTTTCTTAAGCCTTCATATGCATTCTCATAA c.4254
P P K P I N R P F L K P S Y A F S X p.1417
. . . . . . g.98991
caaccgaatctcaatgtacatagaccctctttcttgtttgtcagcatctgaccatctgtg c.*60
. . . . . . g.99051
actataaagctgttattcttgttataccatttgaagtttttactcgtctctattaatatt c.*120
. . . . . g.99108
taaataaatgctggggggtgatagttcttctttttaaaataaacattttcttttgaa c.*177
(downstream sequence)
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