(used for mutation description)
(last modified April 1, 2011)
This file was created to facilitate the description of sequence variants in the IGHMBP2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007976.1, covering IGHMBP2 transcript NM_002180.2.
(upstream sequence)
. . . . g.5042
gtgcgtaacgcacgggcccggcggggaacaccggtccgctgt c.-61
. . . . . . g.5102
aacaccggcccggcgcagaagcgggacgtcggcttctaggggcccaggccggcggcggcg c.-1
. . . . . . g.5162
ATGGCCTCGGCAGCTGTGGAGAGCTTCGTGACCAAGCAACTGGACCTGCTGGAGCTTGAG c.60
M A S A A V E S F V T K Q L D L L E L E p.20
. . | 02 . . . . g.7252
AGAGACGCGGAGGTGGAGGAGCGCAG | GTCCTGGCAGGAGAACATCTCTCTGAAAGAGCTC c.120
R D A E V E E R R | S W Q E N I S L K E L p.40
. . . . . . g.7312
CAGAGCCGAGGCGTGTGTTTGCTGAAGCTGCAGGTATCCAGCCAGCGCACTGGGCTGTAC c.180
Q S R G V C L L K L Q V S S Q R T G L Y p.60
. . . . . . g.7372
GGACGGCTGCTGGTCACCTTTGAGCCCAGGCGATACGGGTCCGCGGCAGCTCTTCCCAGT c.240
G R L L V T F E P R R Y G S A A A L P S p.80
. | 03 . . . . . g.9338
AACAGCTTTACTTCTG | GTGATATCGTGGGCCTGTACGATGCTGCTAATGAGGGCAGTCAG c.300
N S F T S G | D I V G L Y D A A N E G S Q p.100
. . . . . . g.9398
CTGGCCACTGGGATCTTGACCCGGGTCACCCAGAAGTCGGTCACGGTGGCCTTTGATGAG c.360
L A T G I L T R V T Q K S V T V A F D E p.120
. . . . . . g.9458
TCCCACGATTTCCAGTTGAGCTTGGACCGAGAGAATTCCTACAGACTGTTAAAACTTGCC c.420
S H D F Q L S L D R E N S Y R L L K L A p.140
. . | 04 . . . g.9714
AATGATGTCACTTACAGGCGACTGAAAAA | AGCCCTGATTGCTCTAAAGAAGTATCATTCT c.480
N D V T Y R R L K K | A L I A L K K Y H S p.160
. . . . . . g.9774
GGCCCAGCCTCCTCACTCATAGAAGTGCTCTTTGGCAGATCTGCTCCCAGTCCTGCCAGT c.540
G P A S S L I E V L F G R S A P S P A S p.180
| 05. . . . . . g.12642
GAAATAC | ACCCGCTGACATTCTTCAACACCTGCCTGGACACCTCCCAGAAAGAAGCGGTT c.600
E I H | P L T F F N T C L D T S Q K E A V p.200
. . . . . . g.12702
TTATTTGCGCTGTCTCAGAAAGAACTTGCCATCATCCATGGACCTCCTGGCACTGGGAAA c.660
L F A L S Q K E L A I I H G P P G T G K p.220
. . . . . | 06 . g.15981
ACCACGACTGTGGTTGAGATCATTCTTCAAGCTGTGAAACAAGGCTTAAAG | GTTCTGTGC c.720
T T T V V E I I L Q A V K Q G L K | V L C p.240
. . . . . . g.16041
TGCGCCCCCTCCAACATCGCCGTGGACAATCTGGTGGAGCGCCTGGCTCTGTGTAAGCAG c.780
C A P S N I A V D N L V E R L A L C K Q p.260
. . . . . . g.16101
CGGATTCTGCGCCTGGGACACCCTGCCCGCCTCCTGGAGTCCATTCAGCAGCACTCCCTG c.840
R I L R L G H P A R L L E S I Q Q H S L p.280
. . . . . . g.16161
GATGCGGTTTTAGCGCGGAGCGACAGTGCCCAGATTGTTGCAGATATCAGGAAGGACATC c.900
D A V L A R S D S A Q I V A D I R K D I p.300
. | 07 . . . . . g.18933
GACCAGGTCTTT | GTGAAAAACAAAAAGACCCAGGATAAGAGAGAGAAAAGTAATTTTCGA c.960
D Q V F | V K N K K T Q D K R E K S N F R p.320
. . . . . . g.18993
AATGAAATTAAGCTGTTAAGAAAAGAACTGAAGGAGAGGGAAGAAGCAGCTATGCTCGAG c.1020
N E I K L L R K E L K E R E E A A M L E p.340
. . . . | 08 . . g.30352
AGCCTCACTTCGGCAAACGTGGTCCTTGCAACAAACACAG | GTGCGTCTGCCGATGGCCCC c.1080
S L T S A N V V L A T N T G | A S A D G P p.360
. . . . . . g.30412
CTGAAGTTGCTGCCCGAGAGCTACTTCGACGTGGTGGTCATTGACGAGTGTGCCCAGGCC c.1140
L K L L P E S Y F D V V V I D E C A Q A p.380
. . . . . . g.30472
CTCGAGGCGAGCTGCTGGATCCCCCTGCTGAAGGCCAGAAAGTGCATCCTGGCGGGCGAT c.1200
L E A S C W I P L L K A R K C I L A G D p.400
. . . | 09 . . . g.34473
CACAAGCAGCTGCCCCCCACCACAGTCTCTCACAA | GGCTGCGCTGGCAGGACTGTCACTC c.1260
H K Q L P P T T V S H K | A A L A G L S L p.420
. . . . . . g.34533
AGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTG c.1320
S L M E R L A E E Y G A R V V R T L T V p.440
. . . . . . g.34593
CAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAG c.1380
Q Y R M H Q A I M R W A S D T M Y L G Q p.460
. . . | 10 . . g.34966
CTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAG | GGACCTCCCAGGTGTGGCTGCC c.1440
L T A H S S V A R H L L R | D L P G V A A p.480
. . . . . . g.35026
ACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAG c.1500
T E E T G V P L L L V D T A G C G L F E p.500
. . . | 11. . . g.35636
CTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTG | GCGAAGTCCGCCTCGTCAGTTTG c.1560
L E E E D E Q S K G N P G | E V R L V S L p.520
. . . . . . g.35696
CACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCA c.1620
H I Q A L V D A G V P A R D I A V V S P p.540
. | 12 . . . . . g.36496
TACAACCTCCAG | GTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAA c.1680
Y N L Q | V D L L R Q S L V H R H P E L E p.560
. . . . . . g.36556
ATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTC c.1740
I K S V D G F Q G R E K E A V I L S F V p.580
. | 13 . . . . . g.37430
AGATCCAACAGGAAAG | GTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCT c.1800
R S N R K G | E V G F L A E D R R I N V A p.600
. . . . . . g.37490
GTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCAT c.1860
V T R A R R H V A V I C D S R T V N N H p.620
. . . . . . g.37550
GCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTT c.1920
A F L K T L V E Y F T Q H G E V R T A F p.640
. . . . . . g.37610
GAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGC c.1980
E Y L D D I V P E N Y S H E N S Q G S S p.660
. . . . . . g.37670
CACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCAGCGGCAG c.2040
H A A T K P Q G P A T S T R T G S Q R Q p.680
. . . . . . g.37730
GAGGGAGGCCAGGAGGCTGCAGCACCTGCCAGACAGGGCCGGAAGAAGCCGGCTGGGAAG c.2100
E G G Q E A A A P A R Q G R K K P A G K p.700
. . . . . . g.37790
TCTCTGGCCTCTGAAGCTCCATCTCAGCCCAGCCTCAACGGAGGCAGCCCAGAGGGAGTG c.2160
S L A S E A P S Q P S L N G G S P E G V p.720
. . . . . . g.37850
GAGAGCCAAGATGGCGTGGACCACTTCCGGGCCATGATAGTGGAGTTCATGGCCAGCAAG c.2220
E S Q D G V D H F R A M I V E F M A S K p.740
. . . . . . g.37910
AAGATGCAGTTGGAGTTTCCTCCTTCCCTCAATTCCCACGACAGGCTGCGGGTCCACCAA c.2280
K M Q L E F P P S L N S H D R L R V H Q p.760
. . . . . . g.37970
ATAGCCGAGGAGCACGGGCTGAGGCACGACAGTTCCGGGGAAGGGAAGAGGAGGTTCATC c.2340
I A E E H G L R H D S S G E G K R R F I p.780
. . . . . . g.38030
ACTGTGAGCAAGAGGGCCCCGCGACCCCGAGCAGCCCTGGGACCCCCAGCAGGGACCGGT c.2400
T V S K R A P R P R A A L G P P A G T G p.800
. . . . . . g.38090
GGCCCAGCCCCTCTCCAGCCAGTGCCCCCTACCCCTGCGCAGACAGAGCAGCCTCCCAGG c.2460
G P A P L Q P V P P T P A Q T E Q P P R p.820
. . . . . . g.38150
GAGCAGCGTGGCCCAGACCAGCCTGATCTGAGGACGCTGCACCTGGAGAGACTGCAGAGG c.2520
E Q R G P D Q P D L R T L H L E R L Q R p.840
. . . . . . g.38210
GTCAGGAGCGCGCAGGGGCAGCCCGCCAGCAAGGAGCAGCAGGCCTCAGGGCAGCAGAAA c.2580
V R S A Q G Q P A S K E Q Q A S G Q Q K p.860
. . . | 14 . . . g.39360
CTTCCAGAAAAGAAAAAGAAAAAAGCCAAAG | GACATCCGGCCACAGATCTGCCCACGGAG c.2640
L P E K K K K K A K G | H P A T D L P T E p.880
. . . . . . g.39420
GAGGACTTTGAGGCCCTGGTTTCTGCCGCCGTTAAGGCTGATAACACCTGCGGCTTTGCC c.2700
E D F E A L V S A A V K A D N T C G F A p.900
. . . . . . g.39480
AAGTGCACAGCCGGCGTCACAACCCTGGGCCAGTTCTGCCAGCTCTGCAGCCGCCGCTAC c.2760
K C T A G V T T L G Q F C Q L C S R R Y p.920
. . | 15 . . . . g.40719
TGCCTCAGCCACCACCTGCCCGAG | ATCCATGGCTGCGGTGAGAGGGCTCGCGCCCATGCC c.2820
C L S H H L P E | I H G C G E R A R A H A p.940
. . . . . . g.40779
CGGCAGAGAATCAGCCGGGAAGGGGTCCTCTATGCCGGCAGCGGGACCAAGAACGGATCC c.2880
R Q R I S R E G V L Y A G S G T K N G S p.960
. . . . . . g.40839
CTGGACCCAGCCAAGAGGGCCCAGCTGCAGAGGAGGCTGGATAAGAAGCTGAGTGAGCTC c.2940
L D P A K R A Q L Q R R L D K K L S E L p.980
. . . . g.40881
AGCAACCAGAGGACCAGCCGGAGGAAGGAGAGGGGGACGTGA c.2982
S N Q R T S R R K E R G T X p.993
. . . . . . g.40941
ccggccgcatccttgcacgccccgcggagctctctccatggtagcccagggcgctggcag c.*60
. . . . . . g.41001
accatgctccgcctccaccagggccacagaggagcggaggggcctatgggggaggagcgg c.*120
. . . . . . g.41061
agggccctgttggggaaggttgggtttttggaccccagggataagcttttccgatgtcac c.*180
. . . . . . g.41121
aatgtggaggaaagcacctgggggacaacagtgctcgtgcaggtggggcttgggaaatgc c.*240
. . . . . . g.41181
acgtcccttccccttactccccgccaaaacccacatcccagcctctggatcctggggaag c.*300
. . . . . . g.41241
gttccagtccctggagaatacccagggcctcaaacttgaagtcactcctccaatgtctgg c.*360
. . . . . . g.41301
gacttgccagctcagcccgttaggatgagggtgctgagaggaaacaggaaacaagactgc c.*420
. . . . . . g.41361
gaatggcgctcaggcagggagcagggagtggcgtttggcttgcacgttcccatgtggcca c.*480
. . . . . . g.41421
gatgctggggccactttccttctgtctgctggtgactgcagtgttccccctcctcctcac c.*540
. . . . . . g.41481
cacggggctcctgtgagtctggggggcacctctttctggcctgtgcacctctctctggct c.*600
. . . . . . g.41541
tataaaggtgcctggcctgtgccagcccctccttgttgcgcctcaccgtggggaccaggt c.*660
. . . . . . g.41601
gagccggctctcccacgtggttgtcccgggaaagctgccccacagcctcagcatcttcag c.*720
. . . . . . g.41661
cacttaccgatccagagcctcccggccttctccggtgtcctgtaccaactcttctattta c.*780
. . . . . . g.41721
agagaacctcagatgatgtacctgagcctcagggttttgtttcagagggatataaattat c.*840
. . . g.41751
ttaaaaattaaatgaaaacgttgcacactg c.*870
(downstream sequence)
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