(used for variant description)
(last modified July 19, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_000795.3 in the DRD2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering DRD2 transcript NM_000795.3.
(upstream sequence)
. . . . . g.5055
actgctccccgcgggccagagccggccgagctgctgcccgccggggctctgaacg c.-181
. . . . . . g.5115
gcgcggcggggccgggagccagggaccggccgaggagagtggcggccccggacggctgcc c.-121
. . . . . . g.5175
ggaggggcggccgcgcgtggatgcggcgggagctggaagcctcaagcagccggcgccgtc c.-61
. . . | 02 . . g.55628
tctgcccccgggcgccctatggcttgaag | agcctggccacccagtggctccaccgccctg c.-1
. . . . . . g.55688
ATGGATCCACTGAATCTGTCCTGGTATGATGATGATCTGGAGAGGCAGAACTGGAGCCGG c.60
M D P L N L S W Y D D D L E R Q N W S R p.20
. . . . . . g.55748
CCCTTCAACGGGTCAGACGGGAAGGCGGACAGACCCCACTACAACTACTATGCCACACTG c.120
P F N G S D G K A D R P H Y N Y Y A T L p.40
. . . . . . g.55808
CTCACCCTGCTCATCGCTGTCATCGTCTTCGGCAACGTGCTGGTGTGCATGGCTGTGTCC c.180
L T L L I A V I V F G N V L V C M A V S p.60
. . . . . . g.55868
CGCGAGAAGGCGCTGCAGACCACCACCAACTACCTGATCGTCAGCCTCGCAGTGGCCGAC c.240
R E K A L Q T T T N Y L I V S L A V A D p.80
. . . . | 03 . . g.62158
CTCCTCGTCGCCACACTGGTCATGCCCTGGGTTGTCTACCTGGAG | GTGGTAGGTGAGTGG c.300
L L V A T L V M P W V V Y L E | V V G E W p.100
. . . . . . g.62218
AAATTCAGCAGGATTCACTGTGACATCTTCGTCACTCTGGACGTCATGATGTGCACGGCG c.360
K F S R I H C D I F V T L D V M M C T A p.120
. . . | 04 . . . g.63305
AGCATCCTGAACTTGTGTGCCATCAGCATCGACAG | GTACACAGCTGTGGCCATGCCCATG c.420
S I L N L C A I S I D R | Y T A V A M P M p.140
. . . . . . g.63365
CTGTACAATACGCGCTACAGCTCCAAGCGCCGGGTCACCGTCATGATCTCCATCGTCTGG c.480
L Y N T R Y S S K R R V T V M I S I V W p.160
. . . . . | 05 . g.64676
GTCCTGTCCTTCACCATCTCCTGCCCACTCCTCTTCGGACTCAATAACGCAG | ACCAGAAC c.540
V L S F T I S C P L L F G L N N A D | Q N p.180
. . . . . . g.64736
GAGTGCATCATTGCCAACCCGGCCTTCGTGGTCTACTCCTCCATCGTCTCCTTCTACGTG c.600
E C I I A N P A F V V Y S S I V S F Y V p.200
. . . . . . g.64796
CCCTTCATTGTCACCCTGCTGGTCTACATCAAGATCTACATTGTCCTCCGCAGACGCCGC c.660
P F I V T L L V Y I K I Y I V L R R R R p.220
. . . . . . g.64856
AAGCGAGTCAACACCAAACGCAGCAGCCGAGCTTTCAGGGCCCACCTGAGGGCTCCACTA c.720
K R V N T K R S S R A F R A H L R A P L p.240
| 06 . . . . . . g.65875
AAG | GGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAAT c.780
K | G N C T H P E D M K L C T V I M K S N p.260
. . . | 07 . . . g.67426
GGGAGTTTCCCAGTGAACAGGCGGAGAGTG | GAGGCTGCCCGGCGAGCCCAGGAGCTGGAG c.840
G S F P V N R R R V | E A A R R A Q E L E p.280
. . . . . . g.67486
ATGGAGATGCTCTCCAGCACCAGCCCACCCGAGAGGACCCGGTACAGCCCCATCCCACCC c.900
M E M L S S T S P P E R T R Y S P I P P p.300
. . . . . . g.67546
AGCCACCACCAGCTGACTCTCCCCGACCCGTCCCACCATGGTCTCCACAGCACTCCCGAC c.960
S H H Q L T L P D P S H H G L H S T P D p.320
. . . . . . g.67606
AGCCCCGCCAAACCAGAGAAGAATGGGCATGCCAAAGACCACCCCAAGATTGCCAAGATC c.1020
S P A K P E K N G H A K D H P K I A K I p.340
. . . . . . g.67666
TTTGAGATCCAGACCATGCCCAATGGCAAAACCCGGACCTCCCTCAAGACCATGAGCCGT c.1080
F E I Q T M P N G K T R T S L K T M S R p.360
. . . . . | 08 g.69361
AGGAAGCTCTCCCAGCAGAAGGAGAAGAAAGCCACTCAGATGCTCGCCATTGTTCTCG | GC c.1140
R K L S Q Q K E K K A T Q M L A I V L G | p.380
. . . . . . g.69421
GTGTTCATCATCTGCTGGCTGCCCTTCTTCATCACACACATCCTGAACATACACTGTGAC c.1200
V F I I C W L P F F I T H I L N I H C D p.400
. . . . . . g.69481
TGCAACATCCCGCCTGTCCTGTACAGCGCCTTCACGTGGCTGGGCTATGTCAACAGCGCC c.1260
C N I P P V L Y S A F T W L G Y V N S A p.420
. . . . . . g.69541
GTGAACCCCATCATCTACACCACCTTCAACATTGAGTTCCGCAAGGCCTTCCTGAAGATC c.1320
V N P I I Y T T F N I E F R K A F L K I p.440
. g.69553
CTCCACTGCTGA c.1332
L H C X p.443
. . . . . . g.69613
ctctgctgcctgcccgcacagcagcctgcttcccacctccctgcccaggccggccagcct c.*60
. . . . . . g.69673
cacccttgcgaaccgtgagcaggaaggcctgggtggatcggcctcctcttcaccccggca c.*120
. . . . . . g.69733
ggccctgcagtgttcgcttggctccatgctcctcactgcccgcacaccctcactctgcca c.*180
. . . . . . g.69793
gggcagtgctagtgagctgggcatggtaccagccctggggctgggccccccagctcaggg c.*240
. . . . . . g.69853
gcagctcatagagtcccccctcccacctccagtccccctatccttggcaccaaagatgca c.*300
. . . . . . g.69913
gccgccttccttgaccttcctctggggctctagggttgctggagcctgagtcagggccca c.*360
. . . . . . g.69973
gaggctgagttttctctttgtggggcttggcgtggagcaggcggtggggagagatggaca c.*420
. . . . . . g.70033
gttcacaccctgcaaggcccacaggaggcaagcaagctctcttgccgaggagccaggcaa c.*480
. . . . . . g.70093
cttcagtcctgggagacccatgtaaataccagactgcaggttggaccccagagattccca c.*540
. . . . . . g.70153
agccaaaaaccttagctccctcccgcaccccgatgtggacctctactttccaggctagtc c.*600
. . . . . . g.70213
cggacccacctcaccccgttacagctccccaagtggtttccacatgctctgagaagagga c.*660
. . . . . . g.70273
gccctcatcttgaagggcccaggagggtctatggggagaggaactccttggcctagccca c.*720
. . . . . . g.70333
ccctgctgccttctgacggccctgcaatgtatcccttctcacagcacatgctggccagcc c.*780
. . . . . . g.70393
tggggcctggcagggaggtcaggccctggaactctatctgggcctgggctaggggacatc c.*840
. . . . . . g.70453
agaggttctttgagggactgcctctgccacactctgacgcaaaaccactttccttttcta c.*900
. . . . . . g.70513
ttccttctggcctttcctctctcctgtttcccttcccttccactgcctctgccttagagg c.*960
. . . . . . g.70573
agcccacggctaagaggctgctgaaaaccatctggcctggcctggccctgccctgaggaa c.*1020
. . . . . . g.70633
ggaggggaagctgcagcttgggagagcccctggggcctagactctgtaacatcactatcc c.*1080
. . . . . g.70685
atgcaccaaactaataaaactttgacgagtcaccttccaggacccctgggta c.*1132
(downstream sequence)
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