(used for variant description)
(last modified February 28, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000883.3 in the IMPDH1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009194.1, covering IMPDH1 transcript NM_000883.3.
(upstream sequence)
. . g.5021
actcgaccgggctgcgctcac c.-61
. . . . . . g.5081
tgcccagccggggccccgggagcctccaggctcccgcccgccctgagctgcggcctccgc c.-1
. . . . . . g.5141
ATGGAGGGGCCACTCACTCCACCACCGCTGCAGGGAGGCGGAGCCGCCGCTGTTCCGGAG c.60
M E G P L T P P P L Q G G G A A A V P E p.20
. . . . . . g.5201
CCCGGAGCCCGGCAACACCCGGGACACGAGACGGCGGCGCAGCGGTACAGCGCCCGACTG c.120
P G A R Q H P G H E T A A Q R Y S A R L p.40
. . | 02 . . . . g.5532
CTGCAGGCCGGCTACGAGCCCGAGAG | CCCTAGATTGGACCTCGCTACACACCCGACGACA c.180
L Q A G Y E P E S | P R L D L A T H P T T p.60
. | 03 . . . . . g.5680
CCCCGTTCAG | AACTATCTTCAGTGGTCTTACTGGCAGGTGTTGGTGTCCAGATGGATCGC c.240
P R S E | L S S V V L L A G V G V Q M D R p.80
. | 04 . . . . . g.9163
CTTCGCAGGGCTAG | CATGGCGGACTACCTGATCAGCGGCGGCACCGGCTACGTGCCCGAG c.300
L R R A S | M A D Y L I S G G T G Y V P E p.100
. . . . . | 05 . g.11235
GATGGGCTCACCGCGCAGCAGCTCTTCGCCAGCGCCGACGGCCTCACCTACAA | CGACTTC c.360
D G L T A Q Q L F A S A D G L T Y N | D F p.120
. . . . | 06 . . g.13884
CTGATTCTCCCAGGATTCATAGACTTCATAGCTGATGAGGTG | GACCTGACCTCAGCCCTG c.420
L I L P G F I D F I A D E V | D L T S A L p.140
. . . . . . g.13944
ACCCGGAAGATCACGCTGAAGACGCCACTGATCTCCTCCCCCATGGACACTGTGACAGAG c.480
T R K I T L K T P L I S S P M D T V T E p.160
. . | 07 . . . . g.14127
GCTGACATGGCCATTGCCATGGCT | CTGATGGGAGGTATTGGTTTCATTCACCACAACTGC c.540
A D M A I A M A | L M G G I G F I H H N C p.180
. . . | 08 . . g.14464
ACCCCAGAGTTCCAGGCCAACGAGGTGCGGAAGGTCAAG | AAGTTTGAACAGGGCTTCATC c.600
T P E F Q A N E V R K V K | K F E Q G F I p.200
. . . . . . g.14524
ACGGACCCTGTGGTGCTGAGCCCCTCGCACACTGTGGGCGATGTGCTGGAGGCCAAGATG c.660
T D P V V L S P S H T V G D V L E A K M p.220
. . . . . . g.14584
CGGCATGGCTTCTCTGGCATCCCCATCACTGAGACGGGCACCATGGGCAGCAAGCTGGTG c.720
R H G F S G I P I T E T G T M G S K L V p.240
. . . . . . g.14644
GGCATCGTCACCTCCCGAGACATCGACTTTCTTGCTGAGAAGGACCACACCACCCTCCTC c.780
G I V T S R D I D F L A E K D H T T L L p.260
| 09 . . . . . . g.14854
AGTGAG | GTGATGACGCCAAGGATTGAACTGGTGGTGGCTCCAGCAGGTGTGACGTTGAAA c.840
S E | V M T P R I E L V V A P A G V T L K p.280
. . . | 10 . . . g.16395
GAGGCAAATGAGATCCTGCAGCGTAGCAAGAAAG | GGAAGCTGCCTATCGTCAATGATTGC c.900
E A N E I L Q R S K K G | K L P I V N D C p.300
. . . . . . g.16455
GATGAGCTGGTGGCCATCATCGCCCGCACCGACCTGAAGAAGAACCGAGACTACCCTCTG c.960
D E L V A I I A R T D L K K N R D Y P L p.320
. . . . . . g.16515
GCCTCCAAGGATTCCCAGAAGCAGCTGCTCTGTGGGGCAGCTGTGGGCACCCGTGAGGAT c.1020
A S K D S Q K Q L L C G A A V G T R E D p.340
. . . . . | 11 . g.17966
GACAAATACCGTCTGGACCTGCTCACCCAGGCGGGCGTCGACGTCATAGTCTTG | GACTCG c.1080
D K Y R L D L L T Q A G V D V I V L | D S p.360
. . . . . . g.18026
TCCCAAGGGAATTCGGTGTATCAGATCGCCATGGTGCATTACATCAAACAGAAGTACCCC c.1140
S Q G N S V Y Q I A M V H Y I K Q K Y P p.380
. . | 12 . . . . g.18322
CACCTCCAGGTGATTGGGGGGAACG | TGGTGACAGCAGCCCAGGCCAAGAACCTGATTGAT c.1200
H L Q V I G G N V | V T A A Q A K N L I D p.400
. . . . . . g.18382
GCTGGTGTGGACGGGCTGCGCGTGGGCATGGGCTGCGGCTCCATCTGCATCACCCAGGAA c.1260
A G V D G L R V G M G C G S I C I T Q E p.420
| 13 . . . . . . g.19767
G | TGATGGCCTGTGGTCGGCCCCAGGGCACTGCTGTGTACAAGGTGGCTGAGTATGCCCGG c.1320
V | M A C G R P Q G T A V Y K V A E Y A R p.440
. . . . . . g.19827
CGCTTTGGTGTGCCCATCATAGCCGATGGCGGCATCCAGACCGTGGGACACGTGGTCAAG c.1380
R F G V P I I A D G G I Q T V G H V V K p.460
. . | 14 . . . . g.19984
GCCCTGGCCCTTGGAGCCTCCACAG | TGATGATGGGCTCCCTGCTGGCCGCCACTACGGAG c.1440
A L A L G A S T V | M M G S L L A A T T E p.480
. . . . . . g.20044
GCCCCTGGCGAGTACTTCTTCTCAGACGGGGTGCGGCTCAAGAAGTACCGGGGCATGGGC c.1500
A P G E Y F F S D G V R L K K Y R G M G p.500
. . . . . | 15 . g.20393
TCACTGGATGCCATGGAGAAGAGCAGCAGCAGCCAGAAACGATACTTCAG | CGAGGGGGAT c.1560
S L D A M E K S S S S Q K R Y F S | E G D p.520
. . . . . . g.20453
AAAGTGAAGATCGCGCAGGGTGTCTCGGGCTCCATCCAGGACAAAGGATCCATTCAGAAG c.1620
K V K I A Q G V S G S I Q D K G S I Q K p.540
. . . . . . g.20513
TTCGTGCCCTACCTCATAGCAGGCATCCAACACGGCTGCCAGGATATCGGGGCCCGCAGC c.1680
F V P Y L I A G I Q H G C Q D I G A R S p.560
. | 16 . . . . . g.20667
CTGTCTGTCCTTCG | GTCCATGATGTACTCAGGAGAGCTCAAGTTTGAGAAGCGGACCATG c.1740
L S V L R | S M M Y S G E L K F E K R T M p.580
. . . | 17 . . g.21976
TCGGCCCAGATTGAGGGTGGTGTCCATGGCCTGCACTC | TTACGAAAAGCGGCTGTACTGA c.1800
S A Q I E G G V H G L H S | Y E K R L Y X p.599
. . . . . . g.22036
ggacagcggtggaggccgaggtggtggaggggatgcaccccagtgtccacttttgggcac c.*60
. . . . . . g.22096
agcctccctccataactgagtggtccacagatttgcactacgggttctccagctcctttc c.*120
. . . . . . g.22156
caggcagagaggaggggaggtcctgaggggactgctgcccctcactcggcatcccctgca c.*180
. . . . . . g.22216
gagtcaggactgctcccggggccaggctgccctgggagcccccctccgagcccagccagc c.*240
. . . . . . g.22276
caggctctcaggccctgcgcctgcctcaggtctttcttgctgcagcctgctccagcctgg c.*300
. . . . . . g.22336
cccccaccccaggggcaggcggcccctcctggcttctcctgtagggcacctccctgcccc c.*360
. . . . . . g.22396
tagcctcccaggaaatggtgctctcctggccctgcctctggcccttcccgggccgctgcc c.*420
. . . . . . g.22456
cctcagccatgtggcacttctgagctcctgacctaggccaaggggaggtctctgccccct c.*480
. . . . . . g.22516
tccccggccctgggctacccttgggtcctgctcctcaggccgctcccctgtccctggcca c.*540
. . . . . . g.22576
tgggtaggagactgccctggtcatggccgcctgcctgtcattcctgactcaccaccgtcc c.*600
. . . . . . g.22636
ccaggtgaaccattcctcccttctcctcagctgcagtcgaaggctttaactttgcacact c.*660
. . . . . . g.22696
tgggatcacagttgcgtcattgtgtattaaatacttggaataaatcaagcaggtctcaac c.*720
. g.22706
gcctccacta c.*730
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 12
©2004-2015 Leiden University Medical Center