(used for mutation description)
(last modified October 23, 2012)
This file was created to facilitate the description of sequence variants in the GAN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009007.1, covering GAN transcript NM_022041.3.
(upstream sequence)
. . g.5028
agcacaggcacgtcccgggggctccagc c.-121
. . . . . . g.5088
ttctgctcagagcgcggagagccgggccgggcgggcgcgcgcgcaggactcgggccgctc c.-61
. . . . . . g.5148
gaggggtccggccggacggtgtcgggagccggacccgtcggcagaggagcgggcgccgcg c.-1
. . . . . . g.5208
ATGGCTGAGGGCAGTGCCGTGTCTGACCCTCAGCACGCCGCGCGTCTGCTGCGAGCGCTC c.60
M A E G S A V S D P Q H A A R L L R A L p.20
. . . . . . g.5268
AGCTCTTTCCGCGAGGAGTCTCGCTTCTGCGACGCGCACCTGGTCCTCGACGGGGAGGAG c.120
S S F R E E S R F C D A H L V L D G E E p.40
. . . . | 02. . g.41630
ATCCCGGTGCAGAAGAACATCCTGGCGGCGGCCAGCCCGTACATCAG | GACAAAGTTAAAC c.180
I P V Q K N I L A A A S P Y I R | T K L N p.60
. . . . . . g.41690
TATAATCCTCCAAAAGATGATGGATCAACTTATAAGATTGAACTTGAAGGGATATCGGTA c.240
Y N P P K D D G S T Y K I E L E G I S V p.80
. . . . | 03 . . g.44457
ATGGTTATGAGAGAGATCCTGGATTACATCTTCAGTGGGCAG | ATCAGGCTAAATGAAGAT c.300
M V M R E I L D Y I F S G Q | I R L N E D p.100
. . . . . . g.44517
ACAATCCAAGATGTTGTTCAGGCAGCTGACCTGCTGCTACTGACGGACCTTAAAACCCTG c.360
T I Q D V V Q A A D L L L L T D L K T L p.120
. . . . . . g.44577
TGCTGTGAGTTTTTGGAAGGCTGCATTGCTGCTGAGAACTGTATTGGTATCCGTGACTTT c.420
C C E F L E G C I A A E N C I G I R D F p.140
. . . . . . g.44637
GCACTACATTACTGCCTCCATCACGTTCATTACCTTGCCACAGAATACCTGGAGACTCAT c.480
A L H Y C L H H V H Y L A T E Y L E T H p.160
. . . . . . g.44697
TTCCGAGACGTCAGCAGCACGGAAGAATTCTTAGAGCTGAGTCCTCAAAAGCTTAAAGAA c.540
F R D V S S T E E F L E L S P Q K L K E p.180
. . . . . . g.44757
GTGATTTCTCTTGAGAAGTTAAACGTTGGCAATGAAAGATATGTCTTTGAAGCAGTAATT c.600
V I S L E K L N V G N E R Y V F E A V I p.200
. . . | 04 . . . g.46846
CGATGGATAGCACATGATACAGAAATAAGAAAG | GTCCACATGAAGGATGTTATGTCAGCT c.660
R W I A H D T E I R K | V H M K D V M S A p.220
. . . . . . g.46906
CTGTGGGTTTCAGGGTTGGACTCCAGTTATTTACGGGAACAGATGCTGAATGAACCATTA c.720
L W V S G L D S S Y L R E Q M L N E P L p.240
. . . . . . g.46966
GTACGAGAAATTGTCAAAGAGTGTAGCAATATACCGCTCAGCCAGCCGCAGCAAGGGGAG c.780
V R E I V K E C S N I P L S Q P Q Q G E p.260
. . . . . . g.47026
GCGATGCTGGCCAACTTCAAACCCCGGGGCTACTCTGAGTGCATCGTGACTGTTGGTGGA c.840
A M L A N F K P R G Y S E C I V T V G G p.280
. | 05 . . . . . g.47893
GAAGAGAGAGT | TTCACGGAAACCCACAGCAGCGATGCGATGCATGTGCCCTCTCTATGAC c.900
E E R V | S R K P T A A M R C M C P L Y D p.300
. . . . . . g.47953
CCTAACAGGCAGCTTTGGATCGAACTGGCCCCTTTAAGCATGCCGAGAATTAACCATGGA c.960
P N R Q L W I E L A P L S M P R I N H G p.320
. | 06 . . . . . g.52580
GTTCTCTCAGCAG | AAGGATTTTTGTTTGTATTCGGGGGCCAAGATGAAAATAAGCAGACT c.1020
V L S A E | G F L F V F G G Q D E N K Q T p.340
. . . . . . g.52640
CTTAGCTCAGGAGAAAAGTATGATCCAGATGCAAATACATGGACAGCATTGCCACCTATG c.1080
L S S G E K Y D P D A N T W T A L P P M p.360
| 07 . . . . . . g.53882
AACGAG | GCAAGACATAACTTCGGAATTGTGGAGATAGATGGGATGCTGTACATTTTGGGA c.1140
N E | A R H N F G I V E I D G M L Y I L G p.380
. . . . . . g.53942
GGAGAGGATGGTGAAAAGGAGCTGATTTCCATGGAGTGTTACGATATTTATTCTAAAACC c.1200
G E D G E K E L I S M E C Y D I Y S K T p.400
. . . | 08 . . . g.55032
TGGACAAAGCAACCTGATTTGACCATGGTCAGAAAG | ATCGGCTGCTATGCAGCTATGAAA c.1260
W T K Q P D L T M V R K | I G C Y A A M K p.420
. . . . . . g.55092
AAGAAAATCTACGCCATGGGTGGAGGCTCCTACGGAAAGCTTTTTGAGTCTGTAGAGTGT c.1320
K K I Y A M G G G S Y G K L F E S V E C p.440
. . . . . | 09 . g.55391
TATGATCCCAGGACCCAGCAGTGGACTGCCATATGTCCACTAAAAGAGAGGAG | GTTTGGA c.1380
Y D P R T Q Q W T A I C P L K E R R | F G p.460
. . . . . . g.55451
GCGGTGGCCTGTGGAGTTGCTATGGAGCTGTATGTGTTTGGGGGAGTCCGAAGTCGTGAG c.1440
A V A C G V A M E L Y V F G G V R S R E p.480
. . . . . . g.55511
GACGCCCAGGGTAGCGAGATGGTAACTTGCAAGTCCGAGTTCTACCATGATGAGTTTAAA c.1500
D A Q G S E M V T C K S E F Y H D E F K p.500
| 10 . . . . . . g.67311
AG | GTGGATCTATCTTAACGACCAGAATTTATGCATCCCCGCCAGTTCCTCTTTTGTTTAT c.1560
R | W I Y L N D Q N L C I P A S S S F V Y p.520
. . . . . | 11 . g.67457
GGAGCTGTACCTATAGGAGCCAGTATTTATGTTATTGGAGATCTTGATACAG | GTACCAAT c.1620
G A V P I G A S I Y V I G D L D T G | T N p.540
. . . . . . g.67517
TACGACTACGTGCGTGAGTTTAAAAGAAGCACAGGAACCTGGCACCACACTAAACCACTC c.1680
Y D Y V R E F K R S T G T W H H T K P L p.560
. . . . . . g.67577
CTTCCATCCGACCTTCGCCGTACAGGATGTGCAGCCTTACGCATTGCGAATTGCAAGCTT c.1740
L P S D L R R T G C A A L R I A N C K L p.580
. . . . . g.67631
TTCCGCCTGCAGCTTCAGCAAGGCTTATTCCGTATTCGTGTTCATTCCCCTTGA c.1794
F R L Q L Q Q G L F R I R V H S P X p.597
. . . . . . g.67691
ggaggaagcagagcagagtgcgagatcctgacccaagagcaccataacatagctccgaaa c.*60
. . . . . . g.67751
gggagagcagagatggcagctgaaactcactctgtgctgggctttggtatggtaactctt c.*120
. . . . . . g.67811
tggtggttttatgatgcttacaaacttgagctttagctcttgtttgggagaacacgtaac c.*180
. . . . . . g.67871
tgttgaaaaactacctgggaggagtgagttcctccagttaaatgtggctgtagatgttgg c.*240
. . . . . . g.67931
aggctagggaggctagtaaatatcaaaaggaaaagggagtgggaattgctatcatgtaaa c.*300
. . . . . . g.67991
atatcaaagttaaaatactaaggtgcattttccctgaagggaactcatgtctgactgctg c.*360
. . . . . . g.68051
tattcaaatacgtagctttggtaacaaacaaaatccgtatatgcaaatcaacatatccaa c.*420
. . . . . . g.68111
acatgccaagactgcttttccactgcacttggaaggatatattatgcctaaccctgccca c.*480
. . . . . . g.68171
acaaattaaggtttgtgcctaaaatgttagattggactgtatgccagttagtctccattt c.*540
. . . . . . g.68231
attcctagtactctgtcctaagaatctttttaaaactatatcatgatgaattgaaatgaa c.*600
. . . . . . g.68291
gataaaattgctcttttgtaactttatcttagtaatgtaaagattcagtaaattgatgag c.*660
. . . . . . g.68351
tcaggttgcagccctcatgtgaactgaaagaagttgctcgcttctgtgttgacttagatc c.*720
. . . . . . g.68411
aagacacgtcacgcatcctttctggggtagtacctgtggagccgggaagggtctcctgca c.*780
. . . . . . g.68471
gtgccattctgccttctcaatgagcaaaaccattttctaagtatgaggatattagtgagt c.*840
. . . . . . g.68531
aggagattttataaaagaaagacctgagtcagacaaataataaaggtctgctgtggctaa c.*900
. . . . . . g.68591
aaaagcaaaaacaaaaaagctatccagacaaaatacatagggatcagaaactttttcata c.*960
. . . . . . g.68651
taacctgtctgaaagcacacaaagtcttgtttactactgtttagggtttgaaaacttgtc c.*1020
. . . . . . g.68711
ttagaatgcgaatctgtgttaagaatctagtctttgtaatagaagtttcccagtggcatt c.*1080
. . . . . . g.68771
cactagtgagagttttagacaaattatgttacgagtaaagtttggctggtagaataaact c.*1140
. . . . . . g.68831
acctcaacttaatttcattctgttcatagtagagcaaattaatcttttcctccttccctc c.*1200
. . . . . . g.68891
ctttcctatctctcattctcacctcaacccactttaccccacttctcattgggggaaaaa c.*1260
. . . . . . g.68951
tgtctttcgttcgtggaacgtatcttgtaagatattttgttttccacttgaattacacca c.*1320
. . . . . . g.69011
ccctagtgtgaaatcggggacttcaaagtgcttgattccttcctaaattgaattttatgc c.*1380
. . . . . . g.69071
aatgtcaaatttctaatcaatttaatatacagtacttcatttttaattgttttctaaaaa c.*1440
. . . . . . g.69131
aaaggttttttttttccttttggaatatggctgtaagaagcagcattttgtcttattaac c.*1500
. . . . . . g.69191
acatgtataaaggtatcctttggttttaagtcgagaacaggaatttcttctagaaacttc c.*1560
. . . . . . g.69251
ctgtatggaacgtttatatgcaattaacatgcatatgaaaaacatcacttacgttctccc c.*1620
. . . . . . g.69311
acccatagacataaaaaagggtgacctgtgattttttttcttatacctgctggaagtcag c.*1680
. . . . . . g.69371
tacaatgcgtcaaaagttgctgaaagatgctgtgcctatggggttctagagagtgttgag c.*1740
. . . . . . g.69431
tgtggtacattaactctccattttagccagaagatacctgataagagaaggtgtaaggtt c.*1800
. . . . . . g.69491
tttatcttatatgccagaggcaccaggccagatgtgccgcacagtcatgtaattcaatca c.*1860
. . . . . . g.69551
tgtttaatatgtcagtcaaaaccaaattcagaattgttttgtgtaccagtcagctgttgt c.*1920
. . . . . . g.69611
ctgcacattttcgtagtgacagtgtggagatctttttaatgaaagcaaactatgtggcct c.*1980
. . . . . . g.69671
ctgcaaagaaaggaagatttttctttttacaactagatattagttttagaggaaggaaat c.*2040
. . . . . . g.69731
agctgaaaaactaaatttgctttggtgaaatgtcctgtacagaacagtaccttggcattc c.*2100
. . . . . . g.69791
agcagctgtaattggggaacattaaaacagtaactgacatccagttaaagccacgatcgt c.*2160
. . . . . . g.69851
cagcaattctccttttttaatttctgatatttaaagttttttttccagtctacaccaggc c.*2220
. . . . . . g.69911
ctctccaaggagacagttcattatttaggagtgaatgtgttcctcttgcaatattatcag c.*2280
. . . . . . g.69971
tacctgcatgacttggtaaattcattttataaaaatagtgttttttttttttaatttcag c.*2340
. . . . . . g.70031
ttcattgactctataactgcagaaattagataatgttttataaaataaatttgccacata c.*2400
. . . . . . g.70091
atatgggatgcaataaccaacaaagctgctaagtgccaaactgttattttactatatata c.*2460
. . . . . . g.70151
aatattaaaatattgtgttgaagtatagggatgtatttaattttactatgctccaacatt c.*2520
. . . . . . g.70211
aatcatgactcttttgtaaattacagttatttcagtattgtaaaataaatgttgactcat c.*2580
. . g.70233
ttcatgcaggtttgtgttttaa c.*2602
(downstream sequence)
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