(used for variant description)
(last modified June 26, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_000190.3 in the HMBS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008093.1, covering HMBS transcript NM_000190.3.
(upstream sequence)
. . . g.5037
ccggaagtgacgcgaggctctgcggagaccaggagtc c.-121
. . . . . . g.5097
agactgtaggacgacctcgggtcccacgtgtccccggtactcgccggccggagcccccgg c.-61
. . . . . . g.5157
cttcccggggccgggggaccttagcggcacccacacacagcctactttccaagcggagcc c.-1
. . . | 02 . . . g.8405
ATGTCTGGTAACGGCAATGCGGCTGCAACGGCG | GAAGAAAACAGCCCAAAGATGAGAGTG c.60
M S G N G N A A A T A | E E N S P K M R V p.20
. . | 03. . . . g.8791
ATTCGCGTGGGTACCCGCAAGAGCCAG | CTTGCTCGCATACAGACGGACAGTGTGGTGGCA c.120
I R V G T R K S Q | L A R I Q T D S V V A p.40
. . . . | 04 . . g.9225
ACATTGAAAGCCTCGTACCCTGGCCTGCAGTTTGAAATCA | TTGCTATGTCCACCACAGGG c.180
T L K A S Y P G L Q F E I I | A M S T T G p.60
. . . | 05 . . . g.9370
GACAAGATTCTTGATACTGCACTCTCTAAG | ATTGGAGAGAAAAGCCTGTTTACCAAGGAG c.240
D K I L D T A L S K | I G E K S L F T K E p.80
. . | 06 . . . . g.9840
CTTGAACATGCCCTGGAGAAGAATGA | AGTGGACCTGGTTGTTCACTCCTTGAAGGACCTG c.300
L E H A L E K N E | V D L V V H S L K D L p.100
. . . . | 07 . . g.10129
CCCACTGTGCTTCCTCCTGGCTTCACCATCGGAGCCATCTGCAA | GCGGGAAAACCCTCAT c.360
P T V L P P G F T I G A I C K | R E N P H p.120
. . . . . . g.10189
GATGCTGTTGTCTTTCACCCAAAATTTGTTGGGAAGACCCTAGAAACCCTGCCAGAGAAG c.420
D A V V F H P K F V G K T L E T L P E K p.140
| 08 . . . . . . g.10371
AG | TGTGGTGGGAACCAGCTCCCTGCGAAGAGCAGCCCAGCTGCAGAGAAAGTTCCCGCAT c.480
S | V V G T S S L R R A A Q L Q R K F P H p.160
. | 09 . . . . g.11578
CTGGAGTTCAGGAGTATT | CGGGGAAACCTCAACACCCGGCTTCGGAAGCTGGACGAGCAG c.540
L E F R S I | R G N L N T R L R K L D E Q p.180
. . . . . . g.11638
CAGGAGTTCAGTGCCATCATCCTGGCAACAGCTGGCCTGCAGCGCATGGGCTGGCACAAC c.600
Q E F S A I I L A T A G L Q R M G W H N p.200
. | 10 . . . . | 11 . g.12536
CGGGTGGGGCAG | ATCCTGCACCCTGAGGAATGCATGTATGCTGTGGGCCAG | GGGGCCTTG c.660
R V G Q | I L H P E E C M Y A V G Q | G A L p.220
. . . . . . g.12596
GGCGTGGAAGTGCGAGCCAAGGACCAGGACATCTTGGATCTGGTGGGTGTGCTGCACGAT c.720
G V E V R A K D Q D I L D L V G V L H D p.240
. . . . . | 12 . g.12890
CCCGAGACTCTGCTTCGCTGCATCGCTGAAAGGGCCTTCCTGAGGCACCTG | GAAGGAGGC c.780
P E T L L R C I A E R A F L R H L | E G G p.260
. . . . | 13 . . g.13073
TGCAGTGTGCCAGTAGCCGTGCATACAGCTATGAAGGATGGGCAA | CTGTACCTGACTGGA c.840
C S V P V A V H T A M K D G Q | L Y L T G p.280
. . . . . . g.13133
GGAGTCTGGAGTCTAGACGGCTCAGATAGCATACAAGAGACCATGCAGGCTACCATCCAT c.900
G V W S L D G S D S I Q E T M Q A T I H p.300
. | 14 . . . . . g.13281
GTCCCTGCCCAG | CATGAAGATGGCCCTGAGGATGACCCACAGTTGGTAGGCATCACTGCT c.960
V P A Q | H E D G P E D D P Q L V G I T A p.320
. . . . . . g.13341
CGTAACATTCCACGAGGGCCCCAGTTGGCTGCCCAGAACTTGGGCATCAGCCTGGCCAAC c.1020
R N I P R G P Q L A A Q N L G I S L A N p.340
. . . . . . g.13401
TTGTTGCTGAGCAAAGGAGCCAAAAACATCCTGGATGTTGCACGGCAGCTTAACGATGCC c.1080
L L L S K G A K N I L D V A R Q L N D A p.360
g.13407
CATTAA c.1086
H X p.361
. . . . . . g.13467
ctggtttgtggggcacagatgcctgggttgctgctgtccagtgcctacatcccgggcctc c.*60
. . . . . . g.13527
agtgccccattctcactgctatctggggagtgattaccccgggagactgaactgcagggt c.*120
. . . . . . g.13587
tcaagccttccagggatttgcctcaccttggggccttgatgactgccttgcctcctcagt c.*180
. . . . . . g.13647
atgtgggggcttcatctctttagagaagtccaagcaacagcctttgaatgtaaccaatcc c.*240
. . g.13673
tactaataaaccagttctgaaggtgt c.*266
(downstream sequence)
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