(used for variant description)
(last modified July 8, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000836.2 in the GRIN2D gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering GRIN2D transcript NM_000836.2.
(upstream sequence)
. . g.5028
ggacgccgggttccggtcctggcccccc c.-61
. . . . | 02 . . g.8518
cgccatccccccaacagaacagggtcatgaaaag | aggccgcccggcggggcccgcaggcg c.-1
. . . . . . g.8578
ATGCGCGGCGCCGGTGGCCCCCGCGGCCCTCGGGGCCCCGCTAAGATGCTGCTGCTGCTG c.60
M R G A G G P R G P R G P A K M L L L L p.20
. . . . . . g.8638
GCGCTGGCCTGCGCCAGCCCGTTCCCGGAGGAGGCGCCGGGGCCGGGCGGGGCCGGTGGG c.120
A L A C A S P F P E E A P G P G G A G G p.40
. . . . . . g.8698
CCCGGCGGCGGCCTCGGCGGGGCGCGGCCGCTCAACGTGGCGCTCGTGTTCTCGGGGCCC c.180
P G G G L G G A R P L N V A L V F S G P p.60
. . . . . . g.8758
GCGTACGCGGCCGAGGCGGCACGCCTGGGCCCGGCCGTGGCGGCGGCGGTGCGCAGCCCG c.240
A Y A A E A A R L G P A V A A A V R S P p.80
. . . . . . g.8818
GGCCTAGACGTGCGGCCCGTGGCGCTGGTGCTCAACGGCTCGGACCCGCGCAGCCTCGTG c.300
G L D V R P V A L V L N G S D P R S L V p.100
. . . . . . g.8878
CTGCAGCTCTGCGACCTGCTGTCGGGGTTGCGCGTGCACGGCGTGGTCTTCGAAGACGAC c.360
L Q L C D L L S G L R V H G V V F E D D p.120
. . . . . . g.8938
TCGCGCGCGCCCGCCGTCGCGCCCATCCTCGACTTCCTGTCGGCGCAGACCTCGCTGCCC c.420
S R A P A V A P I L D F L S A Q T S L P p.140
. . . . | 03 . . g.14874
ATCGTGGCCGTGCACGGCGGCGCCGCGCTCGTGCTCACGCCCAAG | GAGAAGGGCTCCACC c.480
I V A V H G G A A L V L T P K | E K G S T p.160
. . . . . . g.14934
TTCCTGCAGCTGGGCTCTTCCACCGAGCAACAGCTTCAGGTCATCTTTGAGGTGCTGGAG c.540
F L Q L G S S T E Q Q L Q V I F E V L E p.180
. . . . . . g.14994
GAGTATGACTGGACGTCCTTTGTAGCCGTGACCACTCGTGCCCCTGGCCACCGGGCCTTC c.600
E Y D W T S F V A V T T R A P G H R A F p.200
. . . . . . g.15054
CTGTCCTACATTGAGGTGCTGACTGACGGTAGTCTGGTGGGCTGGGAGCACCGCGGAGCG c.660
L S Y I E V L T D G S L V G W E H R G A p.220
. . . . . . g.15114
CTGACGCTGGACCCTGGGGCGGGCGAGGCCGTGCTCAGTGCCCAGCTCCGCAGTGTCAGC c.720
L T L D P G A G E A V L S A Q L R S V S p.240
. . . . . . g.15174
GCGCAGATCCGCCTGCTCTTCTGCGCCCGAGAGGAGGCCGAGCCCGTGTTCCGCGCAGCT c.780
A Q I R L L F C A R E E A E P V F R A A p.260
. . . . . . g.15234
GAGGAGGCTGGCCTCACTGGATCTGGCTACGTCTGGTTCATGGTGGGGCCCCAGCTGGCT c.840
E E A G L T G S G Y V W F M V G P Q L A p.280
. . . . . . g.15294
GGAGGCGGGGGCTCTGGGGCCCCTGGTGAGCCCCCTCTTCTGCCAGGAGGCGCCCCCCTG c.900
G G G G S G A P G E P P L L P G G A P L p.300
. . . . . . g.15354
CCTGCCGGGCTGTTTGCAGTGCGCTCGGCTGGCTGGCGGGATGACCTGGCTCGGCGAGTG c.960
P A G L F A V R S A G W R D D L A R R V p.320
. . . . . . g.15414
GCAGCTGGCGTGGCCGTAGTGGCCAGAGGTGCCCAGGCCCTGCTGCGTGATTATGGTTTC c.1020
A A G V A V V A R G A Q A L L R D Y G F p.340
. . . . . . g.15474
CTTCCTGAGCTCGGCCACGACTGTCGCGCCCAGAACCGCACCCACCGCGGCGAGAGTCTG c.1080
L P E L G H D C R A Q N R T H R G E S L p.360
| 04 . . . . . . g.24171
CATAG | GTACTTCATGAACATCACGTGGGATAACCGGGATTACTCCTTCAATGAGGACGGC c.1140
H R | Y F M N I T W D N R D Y S F N E D G p.380
. . . . . . g.24231
TTCCTAGTGAACCCCTCCCTGGTGGTCATCTCCCTCACCAGAGACAGGACGTGGGAGGTG c.1200
F L V N P S L V V I S L T R D R T W E V p.400
| 05 . . . . . . g.24558
| GTGGGCAGCTGGGAGCAGCAGACGCTCCGCCTCAAGTACCCGCTGTGGTCCCGCTATGGT c.1260
| V G S W E Q Q T L R L K Y P L W S R Y G p.420
. . . . . . g.24618
CGCTTCCTGCAGCCAGTGGACGACACGCAGCACCTCACGGTGGCCACGCTGGAGGAAAGG c.1320
R F L Q P V D D T Q H L T V A T L E E R p.440
. . . . . . g.24678
CCGTTTGTCATCGTGGAGCCTGCAGACCCTATCAGCGGCACCTGCATCCGAGACTCCGTC c.1380
P F V I V E P A D P I S G T C I R D S V p.460
. . . | 06 . . . g.25017
CCCTGCCGGAGCCAGCTCAACCGAACCCACAG | CCCTCCACCGGATGCCCCCCGCCCGGAA c.1440
P C R S Q L N R T H S | P P P D A P R P E p.480
. . . . . . g.25077
AAGCGCTGCTGCAAGGGTTTCTGCATCGACATTCTGAAGCGGCTGGCGCATACCATCGGC c.1500
K R C C K G F C I D I L K R L A H T I G p.500
. . . . . . g.25137
TTCAGCTACGACCTCTACCTGGTCACCAATGGCAAGCACGGAAAGAAGATCGATGGCGTC c.1560
F S Y D L Y L V T N G K H G K K I D G V p.520
. . | 07 . . . . g.26166
TGGAACGGCATGATCGGGGAG | GTGTTCTACCAGCGCGCAGACATGGCCATCGGCTCCCTC c.1620
W N G M I G E | V F Y Q R A D M A I G S L p.540
. . . . . . g.26226
ACCATCAACGAGGAGCGCTCCGAGATCGTGGACTTCTCCGTCCCCTTCGTGGAGACCGGC c.1680
T I N E E R S E I V D F S V P F V E T G p.560
. . . . . | 08 . g.29364
ATCAGCGTCATGGTGGCGCGCAGCAATGGCACGGTGTCCCCCTCGGCCTTCCTCG | AGCCC c.1740
I S V M V A R S N G T V S P S A F L E | P p.580
. . . . . . g.29424
TACAGCCCCGCCGTGTGGGTGATGATGTTCGTCATGTGCCTCACTGTGGTCGCCGTCACT c.1800
Y S P A V W V M M F V M C L T V V A V T p.600
. . . . . . g.29484
GTTTTCATCTTCGAGTACCTCAGTCCTGTTGGTTACAACCGCAGCCTGGCCACGGGCAAG c.1860
V F I F E Y L S P V G Y N R S L A T G K p.620
| 09 . . . . . . g.29769
C | GCCCTGGCGGTTCAACCTTCACCATTGGGAAATCCATCTGGCTGCTCTGGGCCCTGGTG c.1920
R | P G G S T F T I G K S I W L L W A L V p.640
. . . . . . g.29829
TTCAATAATTCGGTGCCCGTGGAGAACCCCCGGGGAACCACCAGCAAAATCATGGTGCTG c.1980
F N N S V P V E N P R G T T S K I M V L p.660
. . . . . . g.29889
GTGTGGGCCTTCTTCGCCGTCATCTTCCTCGCCAGCTACACAGCCAACCTGGCCGCCTTC c.2040
V W A F F A V I F L A S Y T A N L A A F p.680
. . . . . | 10 . g.31919
ATGATCCAGGAGGAGTACGTGGATACTGTGTCTGGGCTCAGTGACCGCAAG | TTCCAGAGG c.2100
M I Q E E Y V D T V S G L S D R K | F Q R p.700
. . . . . . g.31979
CCCCAGGAGCAGTACCCGCCCCTGAAGTTTGGGACCGTGCCCAACGGCTCCACGGAGAAG c.2160
P Q E Q Y P P L K F G T V P N G S T E K p.720
. . . . . . g.32039
AACATCCGCAGCAACTATCCCGACATGCACAGCTACATGGTGCGCTACAACCAGCCCCGC c.2220
N I R S N Y P D M H S Y M V R Y N Q P R p.740
. . . | 11 . . . g.51922
GTAGAGGAAGCGCTCACTCAGCTCAAGGCAGG | GAAGCTGGACGCCTTCATCTACGATGCT c.2280
V E E A L T Q L K A G | K L D A F I Y D A p.760
. . . . . . g.51982
GCAGTGCTCAATTACATGGCCCGCAAGGACGAGGGCTGCAAGCTTGTCACCATCGGCTCC c.2340
A V L N Y M A R K D E G C K L V T I G S p.780
. . . . . . g.52042
GGCAAGGTCTTCGCCACGACAGGCTATGGCATCGCCCTGCACAAGGGCTCCCGCTGGAAG c.2400
G K V F A T T G Y G I A L H K G S R W K p.800
. . . . | 12 . . g.52295
CGGCCCATCGACCTGGCGTTGCTGCAGTTCCTGGGGGATG | ATGAGATCGAGATGCTGGAG c.2460
R P I D L A L L Q F L G D D | E I E M L E p.820
. . . . . . g.52355
CGGCTGTGGCTCTCTGGGATCTGCCACAATGACAAAATCGAGGTGATGAGCAGCAAGCTG c.2520
R L W L S G I C H N D K I E V M S S K L p.840
. . . . . . g.52415
GACATCGACAACATGGCGGGCGTCTTCTACATGCTCCTGGTGGCCATGGGCCTGTCCCTG c.2580
D I D N M A G V F Y M L L V A M G L S L p.860
. . . . . . g.52475
CTGGTCTTCGCCTGGGAGCACCTGGTGTACTGGCGCCTGCGGCACTGCCTGGGGCCCACC c.2640
L V F A W E H L V Y W R L R H C L G P T p.880
. . . | 13 . . . g.52752
CACCGCATGGACTTCCTGCTGGCCTTCTCCAGG | GGCATGTACAGCTGCTGCAGCGCTGAG c.2700
H R M D F L L A F S R | G M Y S C C S A E p.900
. . . . . . g.52812
GCCGCCCCACCGCCCGCCAAGCCCCCGCCGCCGCCACAGCCCCTGCCCAGCCCCGCGTAC c.2760
A A P P P A K P P P P P Q P L P S P A Y p.920
. . . . . . g.52872
CCCGCGCCGCGGCCGGCTCCCGGGCCCGCACCTTTCGTGCCCCGCGAGCGCGCCTCAGTG c.2820
P A P R P A P G P A P F V P R E R A S V p.940
. . . . . . g.52932
GACCGCTGGCGCCGGACCAAGGGCGCGGGGCCGCCGGGGGGCGCGGGCCTGGCCGACGGC c.2880
D R W R R T K G A G P P G G A G L A D G p.960
. . . . . . g.52992
TTCCACCGCTACTACGGCCCCATCGAGCCGCAGGGCCTAGGCCTCGGCCTGGGCGAAGCG c.2940
F H R Y Y G P I E P Q G L G L G L G E A p.980
. . . . . . g.53052
CGCGCGGCACCGCGGGGCGCAGCCGGGCGCCCGCTGTCCCCGCCGGCCGCTCAGCCCCCG c.3000
R A A P R G A A G R P L S P P A A Q P P p.1000
. . . . . . g.53112
CAGAAGCCGCCGCCCTCCTATTTCGCCATCGTACGCGACAAGGAGCCAGCCGAGCCCCCC c.3060
Q K P P P S Y F A I V R D K E P A E P P p.1020
. . . . . . g.53172
GCCGGCGCCTTCCCCGGCTTCCCGTCGCCGCCCGCGCCCCCCGCCGCCGCGGCCACCGCC c.3120
A G A F P G F P S P P A P P A A A A T A p.1040
. . . . . . g.53232
GTCGGGCCGCCACTCTGCCGCTTGGCCTTCGAGGACGAGAGCCCGCCGGCGCCCGCGCGG c.3180
V G P P L C R L A F E D E S P P A P A R p.1060
. . . . . . g.53292
TGGCCGCGCTCGGACCCCGAGAGCCAACCCCTGCTGGGGCCAGGCGCGGGCGGCGCGGGG c.3240
W P R S D P E S Q P L L G P G A G G A G p.1080
. . . . . . g.53352
GGCACGGGGGGCGCAGGCGGAGGAGCCCCGGCCGCTCCGCCCCCGTGCCGCGCCGCGCCG c.3300
G T G G A G G G A P A A P P P C R A A P p.1100
. . . . . . g.53412
CCCCCGTGCCCTTACCTCGATCTCGAGCCGTCGCCGTCGGACTCGGAGGACTCGGAGAGC c.3360
P P C P Y L D L E P S P S D S E D S E S p.1120
. . . . . . g.53472
CTGGGCGGCGCGTCGCTGGGCGGCCTGGAGCCCTGGTGGTTCGCCGACTTCCCTTACCCG c.3420
L G G A S L G G L E P W W F A D F P Y P p.1140
. . . . . . g.53532
TATGCCGAGCGCCTCGGGCCGCCGCCCGGCCGCTACTGGTCGGTCGACAAGCTCGGGGGC c.3480
Y A E R L G P P P G R Y W S V D K L G G p.1160
. . . . . . g.53592
TGGCGCGCCGGGAGCTGGGACTACCTGCCCCCGCGCAGCGGTCCGGCCGCCTGGCACTGT c.3540
W R A G S W D Y L P P R S G P A A W H C p.1180
. . . . . . g.53652
CGGCACTGCGCCAGCCTGGAGCTGCTGCCGCCGCCGCGCCATCTCAGCTGCTCGCACGAT c.3600
R H C A S L E L L P P P R H L S C S H D p.1200
. . . . . . g.53712
GGCCTGGACGGCGGCTGGTGGGCGCCACCGCCTCCACCCTGGGCCGCCGGGCCCCTGCCC c.3660
G L D G G W W A P P P P P W A A G P L P p.1220
. . . . . . g.53772
CGACGCCGGGCCCGCTGCGGGTGCCCGCGGTCGCACCCGCACCGCCCGCGGGCCTCGCAC c.3720
R R R A R C G C P R S H P H R P R A S H p.1240
. . . . . . g.53832
CGCACGCCCGCCGCCGCCGCGCCCCACCACCACAGGCACCGGCGCGCCGCTGGGGGCTGG c.3780
R T P A A A A P H H H R H R R A A G G W p.1260
. . . . . . g.53892
GACCTCCCGCCGCCCGCGCCCACCTCGCGCTCGCTCGAGGACCTCAGCTCGTGCCCTCGC c.3840
D L P P P A P T S R S L E D L S S C P R p.1280
. . . . . . g.53952
GCCGCCCCTGCGCGCAGGCTTACCGGGCCCTCCCGCCACGCTCGCAGGTGTCCGCACGCC c.3900
A A P A R R L T G P S R H A R R C P H A p.1300
. . . . . . g.54012
GCGCACTGGGGGCCGCCGCTGCCCACAGCTTCCCACCGGAGACACCGGGGCGGGGACCTG c.3960
A H W G P P L P T A S H R R H R G G D L p.1320
. . . . . g.54063
GGCACCCGCAGGGGCTCGGCGCACTTCTCTAGCCTCGAGTCCGAGGTATGA c.4011
G T R R G S A H F S S L E S E V X p.1336
. . . . . . g.54123
cgcggccccgggggccccaccgcccccttggtcagcgcaggccacggcccgagggggcgc c.*60
. . . . . . g.54183
ccgcagtggacaggacccgcgtgggttgggaaggaaagcagtggaactggccggaccccg c.*120
. . . . . . g.54243
cctggagcagcgtcctgcgccccctggttctggaggaaccgcaagccggagaggatttgg c.*180
. . . . . . g.54303
tccctcaactatcacccagcctgagaacgagggggcgggggccttggagcccaccggact c.*240
. . . . . . g.54363
tttttttaaacccgacaagggctttttaacgtcaccagatggggcgggaggtggggggtt c.*300
. . . . . . g.54423
cacgccactcccgcgtcccacctccacgcccggggccgtggcccccacatcactgtgcag c.*360
. . . . . . g.54483
ctccccggccccagccgcgcctccggggaagcccgtttttaacctttcatccattgggac c.*420
. . . . . . g.54543
tcaaaactgtgagacgcgttcgccaaactgtgaccccagaccttggccccgccacacaga c.*480
. . . . . . g.54603
aacccctgacccagactgtgacatccgactcctaaaatggtcatccgactccagactgtg c.*540
. . . . . . g.54663
acccctgaccccaaactgtgacccgaaccccagactgtgccccgaccagactgtgaccct c.*600
. . . . . . g.54723
tgacatcaaaccgtgacaccccctcctcctcttccaccctcggtcgcttttccctactct c.*660
. . . . . . g.54783
gacctaggacacgtccccaacggaagccccgccttcccttgcaccgcgatgaacccaacc c.*720
. . . . . . g.54843
tccctgaagccaaaacttcccaccctgccgcacctccggaccaccccacttgccaccaag c.*780
. . . . . . g.54903
cacatcctctccaaatccaacccttatttgcgacccttcagtgatgacccagcagacctc c.*840
. . . . . . g.54963
caaaaagcctcctctgcccagatctccagccgggtctggggctgggttgcggaggggagg c.*900
. . . . . . g.55023
gtctgggagtccacacttctccaccaacttcccttcccactctcttattccacattgcag c.*960
. . . g.55057
tgtttggaataaaccatgtttttatgcctcctca c.*994
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 16
©2004-2016 Leiden University Medical Center