(used for variant description)
(last modified March 20, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_016219.4 in the MAN1B1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031978.1, covering MAN1B1 transcript NM_016219.4.
(upstream sequence)
. g.5013
actggccgcatag c.-61
. . . . . . g.5073
agacgcagcgcacgcgcagtcgcgtatccgtgtgatgggcgggctgttgacggcgctgcg c.-1
. . . . . . g.5133
ATGGCTGCCTGCGAGGGCAGGAGAAGCGGAGCTCTCGGTTCCTCTCAGTCGGACTTCCTG c.60
M A A C E G R R S G A L G S S Q S D F L p.20
. . . . . . g.5193
ACGCCGCCAGTGGGCGGGGCCCCTTGGGCCGTCGCCACCACTGTAGTCATGTACCCACCG c.120
T P P V G G A P W A V A T T V V M Y P P p.40
. . . . . . g.5253
CCGCCGCCGCCGCCTCATCGGGACTTCATCTCGGTGACGCTGAGCTTTGGCGAGAACTAT c.180
P P P P P H R D F I S V T L S F G E N Y p.60
. . . | 02 . . g.6169
GACAACAGCAAGAGTTGGCGGCGGCGCTCGTGCTGGAGG | AAATGGAAGCAACTGTCGAGA c.240
D N S K S W R R R S C W R | K W K Q L S R p.80
. . . . . . g.6229
TTGCAGCGGAATATGATTCTCTTCCTCCTTGCCTTTCTGCTTTTCTGTGGACTCCTCTTC c.300
L Q R N M I L F L L A F L L F C G L L F p.100
. . | 03 . . . g.6974
TACATCAACTTGGCTGACCATTGGAAAG | CTCTGGCTTTCAGGCTAGAGGAAGAGCAGAAG c.360
Y I N L A D H W K A | L A F R L E E E Q K p.120
. . . . . . g.7034
ATGAGGCCAGAAATTGCTGGGTTAAAACCAGCAAATCCACCCGTCTTACCAGCTCCTCAG c.420
M R P E I A G L K P A N P P V L P A P Q p.140
. . . . | 04 . . g.14325
AAGGCGGACACCGACCCTGAGAACTTACCTGAGATTTCGTCACAG | AAGACACAAAGACAC c.480
K A D T D P E N L P E I S S Q | K T Q R H p.160
. . . . . . g.14385
ATCCAGCGGGGACCACCTCACCTGCAGATTAGACCCCCAAGCCAAGACCTGAAGGATGGG c.540
I Q R G P P H L Q I R P P S Q D L K D G p.180
. . . . . . g.14445
ACCCAGGAGGAGGCCACAAAAAGGCAAGAAGCCCCTGTGGATCCCCGCCCGGAAGGAGAT c.600
T Q E E A T K R Q E A P V D P R P E G D p.200
. . | 05 . . . . g.15941
CCGCAGAGGACAGTCATCAG | CTGGAGGGGAGCGGTGATCGAGCCTGAGCAGGGCACCGAG c.660
P Q R T V I S | W R G A V I E P E Q G T E p.220
. . . . . . g.16001
CTCCCTTCAAGAAGAGCAGAAGTGCCCACCAAGCCTCCCCTGCCACCGGCCAGGACACAG c.720
L P S R R A E V P T K P P L P P A R T Q p.240
. | 06 . . . . . g.17819
GGCACACCAG | TGCATCTGAACTATCGCCAGAAGGGCGTGATTGACGTCTTCCTGCATGCA c.780
G T P V | H L N Y R Q K G V I D V F L H A p.260
. . . . . . g.17879
TGGAAAGGATACCGCAAGTTTGCATGGGGCCATGACGAGCTGAAGCCTGTGTCCAGGTCC c.840
W K G Y R K F A W G H D E L K P V S R S p.280
. . . . . . g.17939
TTCAGTGAGTGGTTTGGCCTCGGTCTCACACTGATCGACGCGCTGGACACCATGTGGATC c.900
F S E W F G L G L T L I D A L D T M W I p.300
. | 07 . . . . . g.19122
TTGGGTCTGAGGAAAG | AATTTGAGGAAGCCAGGAAGTGGGTGTCGAAGAAGTTACACTTT c.960
L G L R K E | F E E A R K W V S K K L H F p.320
. . . . . . g.19182
GAAAAGGACGTGGACGTCAACCTGTTTGAGAGCACGATCCGCATCCTGGGGGGGCTCCTG c.1020
E K D V D V N L F E S T I R I L G G L L p.340
. . . . | 08 . . g.19572
AGTGCCTACCACCTGTCTGGGGACAGCCTCTTCCTGAGGAAAGCT | GAGGATTTTGGAAAT c.1080
S A Y H L S G D S L F L R K A | E D F G N p.360
. . . . . . g.19632
CGGCTAATGCCTGCCTTCAGAACACCATCCAAGATTCCTTACTCGGATGTGAACATCGGT c.1140
R L M P A F R T P S K I P Y S D V N I G p.380
. . . . . . g.19692
ACTGGAGTTGCCCACCCGCCACGGTGGACCTCCGACAGCACTGTGGCCGAGGTGACCAGC c.1200
T G V A H P P R W T S D S T V A E V T S p.400
. . . . . | 09 . g.24204
ATTCAGCTGGAGTTCCGGGAGCTCTCCCGTCTCACAGGGGATAAGAAGTTTCAG | GAGGCA c.1260
I Q L E F R E L S R L T G D K K F Q | E A p.420
. . . . . . g.24264
GTGGAGAAGGTGACACAGCACATCCACGGCCTGTCTGGGAAGAAGGATGGGCTGGTGCCC c.1320
V E K V T Q H I H G L S G K K D G L V P p.440
. . . . . . g.24324
ATGTTCATCAATACCCACAGTGGCCTCTTCACCCACCTGGGCGTATTCACGCTGGGCGCC c.1380
M F I N T H S G L F T H L G V F T L G A p.460
. . . . . . g.24384
AGGGCCGACAGCTACTATGAGTACCTGCTGAAGCAGTGGATCCAGGGCGGGAAGCAGGAG c.1440
R A D S Y Y E Y L L K Q W I Q G G K Q E p.480
| 10 . . . . . . g.24817
ACACA | GCTGCTGGAAGACTACGTGGAAGCCATCGAGGGTGTCAGAACGCACCTGCTGCGG c.1500
T Q | L L E D Y V E A I E G V R T H L L R p.500
. . . . . . g.24877
CACTCCGAGCCCAGTAAGCTCACCTTTGTGGGGGAGCTTGCCCACGGCCGCTTCAGTGCC c.1560
H S E P S K L T F V G E L A H G R F S A p.520
| 11 . . . . . . g.25377
AAGATG | GACCACCTGGTGTGCTTCCTGCCAGGGACGCTGGCTCTGGGCGTCTACCACGGC c.1620
K M | D H L V C F L P G T L A L G V Y H G p.540
. . . . . . g.25437
CTGCCCGCCAGCCACATGGAGCTGGCCCAGGAGCTCATGGAGACTTGTTACCAGATGAAC c.1680
L P A S H M E L A Q E L M E T C Y Q M N p.560
. . . . . . g.25497
CGGCAGATGGAGACGGGGCTGAGTCCCGAGATCGTGCACTTCAACCTTTACCCCCAGCCG c.1740
R Q M E T G L S P E I V H F N L Y P Q P p.580
. . | 12 . . . . g.25640
GGCCGTCGGGACGTGGAGGTCAAG | CCAGCAGACAGGCACAACCTGCTGCGGCCAGAGACC c.1800
G R R D V E V K | P A D R H N L L R P E T p.600
. . . . . . g.25700
GTGGAGAGCCTGTTCTACCTGTACCGCGTCACAGGGGACCGCAAATACCAGGACTGGGGC c.1860
V E S L F Y L Y R V T G D R K Y Q D W G p.620
. . . | 13 . . . g.26485
TGGGAGATTCTGCAGAGCTTCAGCCGATTCACACGG | GTCCCCTCGGGTGGCTATTCTTCC c.1920
W E I L Q S F S R F T R | V P S G G Y S S p.640
. . . . . . g.26545
ATCAACAATGTCCAGGATCCTCAGAAGCCCGAGCCTAGGGACAAGATGGAGAGCTTCTTC c.1980
I N N V Q D P Q K P E P R D K M E S F F p.660
. . . . . . g.26605
CTGGGGGAGACGCTCAAGTATCTGTTCTTGCTCTTCTCCGATGACCCAAACCTGCTCAGC c.2040
L G E T L K Y L F L L F S D D P N L L S p.680
. . . . . . g.26665
CTGGATGCCTACGTGTTCAACACCGAAGCCCACCCTCTGCCTATCTGGACCCCTGCCTAG c.2100
L D A Y V F N T E A H P L P I W T P A X p.699
. . . . . . g.26725
ggtggatggctgctggtgtggggacttcgggtgggcagaggcaccttgctgggtctgtgg c.*60
. . . . . . g.26785
cattttccaagggcccacgtagcaccggcaaccgccaagtggcccaggctctgaactggc c.*120
. . . . . . g.26845
tctgggctcctcctcgtctctgctttaatcaggacaccgtgaggacaagtgaggccgtca c.*180
. . . . . . g.26905
gtcttggtgtgatgcggggtgggctgggccgctggagcctccgcctgcttcctccagaag c.*240
. . . . . . g.26965
acacgaatcatgactcacgattgctgaagcctgagcaggtctctgtgggccgaccagagg c.*300
. . . . . . g.27025
ggggcttcgaggtggtccctggtactggggtgaccgagtggacagcccagggtgcagctc c.*360
. . . . . . g.27085
tgcccgggctcgtgaagcctcagatgtccccaatccaagggtctggaggggctgccgtga c.*420
. . . . . . g.27145
ctccagaggcctgaggctccagggctggctctggtgtttacaagctggactcagggatcc c.*480
. . . . . . g.27205
tcctggccgccccgcagggggcttggagggctggacggcaagtccgtctagctcacgggc c.*540
. . . . . g.27261
ccctccagtggaatgggtcttttcggtggagataaaagttgatttgctctaaccgc c.*596
(downstream sequence)
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