(used for variant description)
(last modified October 23, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_007325.4 in the GRIA3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009377.2, covering GRIA3 transcript NM_007325.4.
(upstream sequence)
. . . . . g.5053
agagatcctgggagcgagagggagagagagggagcaagaaaggaagagagagc c.-241
. . . . . . g.5113
gagcgagagagagcgagcgaataagagagagagtaagagggagagagaagaagaggaaga c.-181
. . . . . . g.5173
agaggaggcggcggcagcggaggaggaggaggactagtgtggggtggaaaggaagagtga c.-121
. . . . . . g.5233
gcgagagcaagttaaggggagggggtgtaagagccagcgaattctttttctttttctatt c.-61
. . . . . . g.5293
attattttgacgactcctgagttgcgcccatgctcttgtcagcttcgttttaggcgtagc c.-1
. . . . . . g.5353
ATGGCCAGGCAGAAGAAAATGGGGCAAAGCGTGCTCCGGGCGGTCTTCTTTTTAGTCCTG c.60
M A R Q K K M G Q S V L R A V F F L V L p.20
. . . . | 02 . g.6600
GGGCTTTTGGGTCATTCTCACGGAGGATTCCCCAACACCATCAGCATAG | GTGGACTTTTC c.120
G L L G H S H G G F P N T I S I G | G L F p.40
. . . . . . g.6660
ATGAGAAACACAGTGCAGGAGCACAGCGCTTTCCGCTTTGCCGTGCAGTTATACAACACC c.180
M R N T V Q E H S A F R F A V Q L Y N T p.60
. . . . . . g.6720
AACCAGAACACCACCGAGAAGCCCTTCCATTTGAATTACCACGTAGATCACTTGGATTCC c.240
N Q N T T E K P F H L N Y H V D H L D S p.80
. . | 03 . . . g.74092
TCCAATAGTTTTTCCGTGACAAATGCTT | TCTGCTCCCAGTTCTCGAGAGGGGTGTATGCC c.300
S N S F S V T N A F | C S Q F S R G V Y A p.100
. . . . . . g.74152
ATCTTTGGATTCTATGACCAGATGTCAATGAACACCCTGACCTCCTTCTGTGGGGCCCTG c.360
I F G F Y D Q M S M N T L T S F C G A L p.120
. . . . . . g.74212
CACACATCCTTTGTTACGCCTAGCTTCCCCACTGACGCAGATGTGCAGTTTGTCATCCAG c.420
H T S F V T P S F P T D A D V Q F V I Q p.140
. . . . . . g.74272
ATGCGCCCAGCCTTGAAGGGCGCTATTCTGAGTCTTCTGGGTCATTACAAGTGGGAGAAG c.480
M R P A L K G A I L S L L G H Y K W E K p.160
. . | 04 . . . g.146815
TTTGTGTACCTCTATGACACAGAACGAG | GATTTTCCATCCTCCAAGCGATTATGGAAGCA c.540
F V Y L Y D T E R G | F S I L Q A I M E A p.180
. . . . . . g.146875
GCAGTGCAAAACAACTGGCAAGTAACAGCAAGGTCTGTGGGAAACATAAAGGACGTCCAA c.600
A V Q N N W Q V T A R S V G N I K D V Q p.200
. . . . . . g.146935
GAATTCAGGCGCATCATTGAAGAAATGGACAGGAGGCAGGAAAAGCGATACTTGATTGAC c.660
E F R R I I E E M D R R Q E K R Y L I D p.220
. . . | 05 . . . g.175691
TGCGAAGTCGAAAGGATTAACACAATTTTGGAACAG | GTTGTGATCCTAGGGAAACACTCA c.720
C E V E R I N T I L E Q | V V I L G K H S p.240
. . . | 06 . . . g.215755
AGAGGTTATCACTACATGCTCGCTAACCTG | GGTTTTACTGATATTTTACTGGAAAGAGTC c.780
R G Y H Y M L A N L | G F T D I L L E R V p.260
. . . . . . g.215815
ATGCATGGGGGAGCCAACATTACAGGTTTCCAGATTGTCAACAATGAAAACCCTATGGTT c.840
M H G G A N I T G F Q I V N N E N P M V p.280
. . . . . . g.215875
CAGCAGTTCATACAGCGCTGGGTGAGGCTGGATGAAAGGGAATTCCCTGAAGCCAAGAAT c.900
Q Q F I Q R W V R L D E R E F P E A K N p.300
. | 07 . . . . . g.219441
GCACCACTAAAG | TATACATCTGCATTGACACACGACGCAATACTGGTCATAGCAGAAGCT c.960
A P L K | Y T S A L T H D A I L V I A E A p.320
. . . . . . g.219501
TTCCGCTACCTGAGGAGGCAGCGAGTAGATGTGTCCCGGAGAGGAAGTGCTGGAGACTGC c.1020
F R Y L R R Q R V D V S R R G S A G D C p.340
. . . . . . g.219561
TTAGCAAATCCTGCTGTGCCCTGGAGTCAAGGAATTGATATTGAGAGAGCTCTGAAAATG c.1080
L A N P A V P W S Q G I D I E R A L K M p.360
| 08 . . . . . . g.223811
| GTGCAAGTACAAGGAATGACTGGAAATATTCAATTTGACACTTATGGACGTAGGACAAAT c.1140
| V Q V Q G M T G N I Q F D T Y G R R T N p.380
. . . . | 09 . . g.224184
TATACCATCGATGTGTATGAAATGAAAGTCAGTGGCTCTCGAAAA | GCTGGCTACTGGAAT c.1200
Y T I D V Y E M K V S G S R K | A G Y W N p.400
. . . . . . g.224244
GAGTATGAAAGGTTTGTGCCTTTCTCAGATCAGCAAATCAGCAATGACAGTGCATCCTCA c.1260
E Y E R F V P F S D Q Q I S N D S A S S p.420
. . . | 10 . . . g.225492
GAGAATCGGACCATAGTAGTGACTACCATTCTG | GAATCACCATATGTAATGTACAAGAAG c.1320
E N R T I V V T T I L | E S P Y V M Y K K p.440
. . . . . . g.225552
AACCATGAGCAACTGGAAGGAAATGAACGATATGAAGGCTATTGTGTAGACCTAGCCTAT c.1380
N H E Q L E G N E R Y E G Y C V D L A Y p.460
. . . . . . g.225612
GAAATAGCCAAACATGTAAGGATCAAATACAAATTGTCCATCGTTGGTGACGGGAAATAT c.1440
E I A K H V R I K Y K L S I V G D G K Y p.480
. . . . . . g.225672
GGTGCAAGGGATCCAGAGACTAAAATATGGAACGGCATGGTTGGGGAACTTGTCTATGGG c.1500
G A R D P E T K I W N G M V G E L V Y G p.500
| 11 . . . . . . g.238219
| AGAGCTGATATAGCTGTTGCTCCACTCACTATAACATTGGTCCGTGAAGAAGTCATAGAT c.1560
| R A D I A V A P L T I T L V R E E V I D p.520
. . . . . . g.238279
TTTTCAAAGCCATTCATGAGCCTGGGCATCTCCATCATGATAAAGAAGCCTCAGAAATCA c.1620
F S K P F M S L G I S I M I K K P Q K S p.540
. . . . . . g.238339
AAACCAGGCGTATTCTCATTTCTGGATCCCCTGGCTTATGAAATCTGGATGTGCATTGTC c.1680
K P G V F S F L D P L A Y E I W M C I V p.560
. . . . . . g.238399
TTTGCTTACATTGGAGTCAGCGTAGTTCTTTTCCTAGTCAGCAGGTTCAGTCCTTATGAA c.1740
F A Y I G V S V V L F L V S R F S P Y E p.580
. . . . . . g.238459
TGGCACTTGGAAGACAACAATGAAGAACCTCGTGACCCACAAAGTCCTCCTGATCCTCCA c.1800
W H L E D N N E E P R D P Q S P P D P P p.600
. . . . . . g.238519
AATGAATTTGGAATATTTAACAGTCTTTGGTTTTCCTTGGGTGCCTTTATGCAGCAAGGA c.1860
N E F G I F N S L W F S L G A F M Q Q G p.620
. | 12. . . . . g.248741
TGTGATATTTCTCCAAG | ATCACTCTCCGGGCGCATTGTTGGAGGGGTTTGGTGGTTCTTC c.1920
C D I S P R | S L S G R I V G G V W W F F p.640
. . . . . . g.248801
ACCCTGATCATAATTTCTTCCTATACTGCCAATCTCGCTGCTTTCCTGACTGTGGAGAGG c.1980
T L I I I S S Y T A N L A A F L T V E R p.660
. . . . . . g.248861
ATGGTTTCTCCCATAGAGAGTGCTGAAGACTTAGCTAAACAGACTGAAATTGCATATGGG c.2040
M V S P I E S A E D L A K Q T E I A Y G p.680
. . . | 13 . . . g.285646
ACCCTGGACTCCGGTTCAACAAAAGAATTTTTCAGA | AGATCCAAAATTGCTGTGTACGAG c.2100
T L D S G S T K E F F R | R S K I A V Y E p.700
. . . . . . g.285706
AAAATGTGGTCTTACATGAAATCAGCGGAGCCATCTGTGTTTACCAAAACAACAGCAGAC c.2160
K M W S Y M K S A E P S V F T K T T A D p.720
. . . . . . g.285766
GGAGTGGCCCGAGTGCGAAAGTCCAAGGGAAAGTTCGCCTTCCTGCTGGAGTCAACCATG c.2220
G V A R V R K S K G K F A F L L E S T M p.740
. . . . . . g.285826
AATGAGTACATTGAGCAGAGAAAACCATGTGATACGATGAAAGTTGGTGGAAATCTGGAT c.2280
N E Y I E Q R K P C D T M K V G G N L D p.760
. . . . | 14 . . g.300836
TCCAAAGGCTATGGTGTGGCAACCCCTAAAGGCTCAGCATTAGG | AACGCCTGTAAACCTT c.2340
S K G Y G V A T P K G S A L G | T P V N L p.780
. . . . . . g.300896
GCAGTATTGAAACTCAGTGAACAAGGCATCTTAGACAAGCTGAAAAACAAATGGTGGTAC c.2400
A V L K L S E Q G I L D K L K N K W W Y p.800
. . . | 15 . . g.303577
GATAAGGGGGAATGTGGAGCCAAGGACTCCGGGAGTAAG | GACAAGACCAGCGCTCTGAGC c.2460
D K G E C G A K D S G S K | D K T S A L S p.820
. . . . . . g.303637
CTGAGCAATGTGGCAGGCGTTTTCTATATACTTGTCGGAGGTCTGGGGCTGGCCATGATG c.2520
L S N V A G V F Y I L V G G L G L A M M p.840
. . . . . . g.303697
GTGGCTTTGATAGAATTCTGTTACAAATCACGGGCAGAGTCCAAACGCATGAAACTCACA c.2580
V A L I E F C Y K S R A E S K R M K L T p.860
. . . . . . g.303757
AAGAACACCCAAAACTTTAAGCCTGCTCCTGCCACCAACACTCAGAATTATGCTACATAC c.2640
K N T Q N F K P A P A T N T Q N Y A T Y p.880
. . . . g.303802
AGAGAAGGCTACAACGTGTATGGAACAGAGAGTGTTAAGATCTAG | c.2686
R E G Y N V Y G T E S V K I X p.894
| 16 . . . . . . g.309528
gg | atcccttcccactggaggcatgtgatgagaggaaatcaccgaaaacgtggctgcttca c.*60
. . . . . . g.309588
aggatcctgagccagatttcactctccttggtgtcgggcatgacacgaatattgctgatg c.*120
. . . . . . g.309648
gtgcaatgacctttcaataggaaaaactgatttttttttccttcagtgccttatggaaca c.*180
. . . . . . g.309708
ctctgagactcgcgacaatgcaaaccatcattgaaatctttttgctttgcttgaaaaaaa c.*240
. . . . . . g.309768
ataattaaaataaaaaccaacaaaaatggacatgcaagattccagtatgcgaaaaaaaat c.*300
. . . . . . g.309828
cttattaagtcaattcaacaaaagccattctttgataccactgcagagtatataaacacc c.*360
. . . . . . g.309888
atgttctttaatacacacacacacacacacacacacacacacacacatttaaattccaat c.*420
. . . . . . g.309948
tcagcaaagaggcccatctaagctaaaaaaattaattcttcctgattaaaaagaaaaaat c.*480
. . . . . . g.310008
ctgtctcccagtgtttgggaagacggactggcatttcttctaggatctgctgaccagatg c.*540
. . . . . . g.310068
tttttggtatttcctgttggtggtgatgttctgtgcactctatttcctttcaatgttgct c.*600
. . . . . . g.310128
gaaatgtgtatatctttagaatgtaaatgcaacacttaagaaaattcaaacactttggaa c.*660
. . . . . . g.310188
aagggactaaacagtgatttctctgtgttcttgaaatggttttgtgaaaatgctttgata c.*720
. . . . . . g.310248
acttcccactcaaagaagagatttacagagctttcgaaattgactttgtgtgtagcaagg c.*780
. . . . . . g.310308
gacggggcactatcaggatacctcttggtgctttcctaaaatggatcccggggctttcca c.*840
. . . . . . g.310368
aggagcctggaatttcagctcacagatctgtttttcttgcttcagtgtgcattttaagtc c.*900
. . . . . . g.310428
aatagagctgagtatctagcattgaggtgagggaaatgctgcctatactcccagatgtgt c.*960
. . . . . . g.310488
ttagaatatctcagaaacaacactgtgtttagctcggctttctctgctaagtatgccttt c.*1020
. . . . . . g.310548
caagtgtacaccacggagacaggaccgcgttgcaaggcgggacagcaggttcagaccaca c.*1080
. . . . . . g.310608
gttctcagtctgactttactcttgctaggtctgtcctactagctgttgcctgctaccgcc c.*1140
. . . . . . g.310668
catggctctccatcggactgcatgtgtccttttctagtttgcaaagactaaaatgcattc c.*1200
. . . . . . g.310728
ccaaacctactgctaatctgagggcctcagcatcacttccagatccttgcttggagcagt c.*1260
. . . . . . g.310788
ctctctattgactctctcagatcgctccactgctccatgggctatcaagtaactaactgc c.*1320
. . . . . . g.310848
atacctgccgttggcatcatcagaacagtccgaagaaatagtctccactcactaattacc c.*1380
. . . . . . g.310908
tcctatataacgacgtatgcttcctgtagttcagtagtttgctctcatcgataacgtgca c.*1440
. . . . . . g.310968
ttgggaagtttccagactgcaaaaactaggagctcgcattcatttcccaagtgtgaccct c.*1500
. . . . . . g.311028
tagatgcttagttgactcgctgcatatttgctcttgtcttcagaaaagaaaggaagaagt c.*1560
. . . . . . g.311088
atcgttccaacgaaatgtttccagaaaagtgtactataaactttcattccaaaaatggtg c.*1620
. . . . . . g.311148
tcataagcaaacaactcacttgtcaaatttcaaatggtattgaacaaaaaaagaaagctg c.*1680
. . . . . . g.311208
ttgtgtttttgttttgttttgttttcatgaaactgtgattttcaacttatgaatgctata c.*1740
. . . . . . g.311268
atgtcccagcgcgggaagctcacgctgtgtgaacatgaagttgtataaaacaaaccaacc c.*1800
. . . . . . g.311328
aacctacacacaaatgttttcataggcactgtataaagaaaaatgtatgtttattaactc c.*1860
. . . . . . g.311388
aaatcagtttttcagagaggaaacgtcactgagatgaagaggcgggtaaattggtttgtt c.*1920
. . . . . . g.311448
attttttaaaaaaaacttgcatgtttaaaaaaaagttgattgcttcaaatttctgctact c.*1980
. . . . . . g.311508
aacttcaagctatgggagtttggcagtagtcacttgaggattttttttccaattcttttc c.*2040
. . . . . . g.311568
tttttgttgttaaagctgtacttcagtgaacagaaaaattgccaagcaaactaatggcta c.*2100
. . . . . . g.311628
taaaagcgtaatttgcatgtgtgggcataaactacagagcctcattgccatgaggtattg c.*2160
. . . . g.311673
tacaaagttttaatacattttgtaaataaaattgtaaagaaagaa c.*2205
(downstream sequence)
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