(used for mutation description)
(last modified February 12, 2010)
This file was created to facilitate the description of sequence variants in the ANO5 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_015844.1, covering ANO5 transcript variant 1 (NM_213599.2). Exon 3 is alternatively spliced in ANO5 transcript variant 2 (NM_001142649.1).
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. g.5017
agagcgcccaggagcgc c.-301
. . . . . . g.5077
taccggctgagggtggggaagcgcagggccaagcgcgcgaagcaggttgtgggggaccgg c.-241
. . . . . . g.5137
gtcgagtggaagtacccgccggagaggaaggccggctggctgtggcgcccagagacggtg c.-181
. . . . . . g.5197
gagtccgaggaggaggagaaggaggcctgcagaaggaagagcaggcccttagaagtccag c.-121
. . . . . . g.5257
cagcagcaactccggcggcccacagtcagattcagcacctgcctcagatctccacgtctg c.-61
. . . . . . g.5317
tctcagctgcccctctcctgctgcctctcaggcaccagtgccattaacgagctggcgaag c.-1
. . . . | 02 . . g.15648
ATGGGCGACCCGGATCTCCTGGAAGTGTTGGCGGAGGAAG | GGGAAAAAGTCAATAAGCAT c.60
M G D P D L L E V L A E E G | E K V N K H p.20
. . | 03. / . . . g.23121
ATAGACTACTCTTTCCAAATGAGTGAG | CAG / AGCCTGAGCAGCAGAGAGACCAGCTTTCTC c.120
I D Y S F Q M S E | Q / S L S S R E T S F L p.40
alternatively spliced ^
. | 04 . . . . g.30112
ATCAATGAAGAAACAATG | CCTGCAAAGCGATTCAATTTGTTCCTGAGGCGGCGGCTTATG c.180
I N E E T M | P A K R F N L F L R R R L M p.60
| 05 . . . . . . g.32981
| TTTCAAAAAAATCAGCAAAGCAAAGATTCTATCTTCTTCCGAGATGGGATTAGGCAAATT c.240
| F Q K N Q Q S K D S I F F R D G I R Q I p.80
. . . . . | 06 . g.37814
GATTTTGTGCTTTCCTACGTTGATGATGTAAAGAAAGACGCAGAGTTAAAGGCG | GAAAGA c.300
D F V L S Y V D D V K K D A E L K A | E R p.100
. . . . . . g.37874
AGAAAAGAGTTTGAAACTAATCTCAGAAAAACAGGTCTTGAGTTGGAAATAGAAGACAAA c.360
R K E F E T N L R K T G L E L E I E D K p.120
| 07 . . . . . . g.39183
AGG | GACTCGGAAGATGGAAGAACTTATTTTGTCAAGATCCATGCCCCTTGGGAGGTATTA c.420
R | D S E D G R T Y F V K I H A P W E V L p.140
. . . . . . g.39243
GTTACCTATGCTGAAGTCTTGGGAATCAAAATGCCTATTAAGGAGAGTGATATTCCCCGC c.480
V T Y A E V L G I K M P I K E S D I P R p.160
. . . . . . g.39303
CCTAAGCACACTCCTATAAGCTATGTGCTTGGACCTGTAAGACTCCCACTGAGTGTGAAG c.540
P K H T P I S Y V L G P V R L P L S V K p.180
. . . . . . g.39363
TATCCCCATCCTGAATATTTTACTGCACAATTCAGCAGACATCGGCAGGAGCTCTTCCTC c.600
Y P H P E Y F T A Q F S R H R Q E L F L p.200
. . . . | 08 . g.47999
ATCGAAGATCAGGCAACCTTCTTTCCATCCTCATCAAGAAACAGAATT | GTGTACTATATT c.660
I E D Q A T F F P S S S R N R I | V Y Y I p.220
. . . . . . g.48059
CTCTCAAGATGTCCTTTTGGCATAGAAGATGGGAAGAAAAGGTTTGGGATTGAAAGACTG c.720
L S R C P F G I E D G K K R F G I E R L p.240
. . . . | 09 . . g.51411
CTAAACTCTAACACTTACTCATCTGCCTATCCACTCCATGAT | GGCCAATATTGGAAGCCA c.780
L N S N T Y S S A Y P L H D | G Q Y W K P p.260
. . . . . . g.51471
TCAGAACCTCCCAATCCTACCAATGAAAGATACACACTTCACCAGAATTGGGCTCGATTT c.840
S E P P N P T N E R Y T L H Q N W A R F p.280
. . . | 10 . . g.62083
TCCTATTTCTACAAGGAGCAGCCTTTAGACTTGATTAA | GAATTATTATGGAGAAAAAATT c.900
S Y F Y K E Q P L D L I K | N Y Y G E K I p.300
. . . . . . g.62143
GGTATCTATTTTGTCTTTCTTGGATTTTACACAGAAATGCTATTCTTTGCAGCTGTAGTT c.960
G I Y F V F L G F Y T E M L F F A A V V p.320
. . . . . | 11 . g.62572
GGCTTAGCTTGTTTTATTTATGGCTTATTATCAATGGAACATAACACAAGCAG | CACTGAA c.1020
G L A C F I Y G L L S M E H N T S S | T E p.340
. . . . . . g.62632
ATCTGTGACCCTGAGATTGGTGGTCAGATGATCATGTGCCCACTCTGTGATCAAGTGTGT c.1080
I C D P E I G G Q M I M C P L C D Q V C p.360
. . . | 12 . . g.62796
GATTATTGGAGACTAAATAGTACGTGTTTGGCTTCAAAG | TTCTCCCATTTGTTTGATAAT c.1140
D Y W R L N S T C L A S K | F S H L F D N p.380
. . . . | 13 . . g.67215
GAGTCAACAGTGTTCTTTGCAATATTCATGGGAATTTGGG | TCACCTTATTTTTGGAGTTT c.1200
E S T V F F A I F M G I W V | T L F L E F p.400
. . . . . . g.67275
TGGAAACAACGACAAGCCAGACTGGAATATGAATGGGACCTGGTGGACTTTGAAGAGGAA c.1260
W K Q R Q A R L E Y E W D L V D F E E E p.420
. . . . . . g.67335
CAGCAGCAGCTTCAGCTGAGACCAGAATTTGAAGCTATGTGTAAACACAGGAAATTGAAT c.1320
Q Q Q L Q L R P E F E A M C K H R K L N p.440
. | 14 . . . . . g.69552
GCAGTGACTAAG | GAGATGGAACCTTACATGCCTCTATACACGCGTATTCCATGGTACTTT c.1380
A V T K | E M E P Y M P L Y T R I P W Y F p.460
. . | 15. . . . g.71376
CTTTCAGGAGCCACAGTGACATTATGG | ATGTCTCTTGTCGTCACCAGTATGGTAGCTGTA c.1440
L S G A T V T L W | M S L V V T S M V A V p.480
. . . . . . g.71436
ATTGTGTACCGCCTGTCAGTCTTTGCTACATTTGCTAGTTTCATGGAAAGTGATGCATCC c.1500
I V Y R L S V F A T F A S F M E S D A S p.500
. . . . . . g.71496
TTAAAGCAGGTCAAAAGCTTCCTTACTCCTCAGATAACCACATCACTCACAGGATCATGC c.1560
L K Q V K S F L T P Q I T T S L T G S C p.520
. . . . . . g.71556
TTGAACTTTATTGTCATCTTGATCTTGAATTTCTTTTATGAAAAGATATCTGCCTGGATC c.1620
L N F I V I L I L N F F Y E K I S A W I p.540
. | 16 . . . . . g.74003
ACAAAAATGG | AAATTCCTCGAACATACCAGGAGTATGAGAGCAGTCTTACCTTGAAAATG c.1680
T K M E | I P R T Y Q E Y E S S L T L K M p.560
. . . . . . g.74063
TTCCTGTTTCAGTTTGTAAATTTTTACTCATCCTGCTTCTACGTAGCTTTCTTTAAAGGG c.1740
F L F Q F V N F Y S S C F Y V A F F K G p.580
. . . . . . g.74123
AAGTTCGTAGGCTATCCTGGAAAATACACATATTTATTTAATGAGTGGAGAAGTGAAGAG c.1800
K F V G Y P G K Y T Y L F N E W R S E E p.600
| 17 . . . . . . g.74830
| TGTGATCCTGGAGGCTGTCTTATAGAATTGACAACCCAATTGACCATTATAATGACCGGG c.1860
| C D P G G C L I E L T T Q L T I I M T G p.620
. . . | 18 . . g.82158
AAACAGATTTTTGGAAACATTAAAGAAGCCATTTATCC | CTTGGCTTTGAATTGGTGGAGA c.1920
K Q I F G N I K E A I Y P | L A L N W W R p.640
. . . . . . g.82218
CGCCGAAAAGCTCGGACAAACTCTGAGAAGCTGTATAGTCGATGGGAGCAGGATCATGAC c.1980
R R K A R T N S E K L Y S R W E Q D H D p.660
. . . . | 19 . g.84619
CTTGAAAGTTTTGGACCCCTTGGGCTTTTCTATGAGTACTTAGAAACAG | TTACTCAATTT c.2040
L E S F G P L G L F Y E Y L E T V | T Q F p.680
. . . . . . g.84679
GGATTTGTTACACTATTTGTGGCCTCTTTTCCTTTGGCTCCTCTTCTTGCTCTCATAAAT c.2100
G F V T L F V A S F P L A P L L A L I N p.700
. . . . . . g.84739
AATATTGTAGAGATTCGAGTGGATGCCTGGAAACTTACCACTCAATACAGGAGAACTGTA c.2160
N I V E I R V D A W K L T T Q Y R R T V p.720
. . . . . . g.84799
GCTTCTAAAGCTCATAGCATAGGTGTTTGGCAAGACATTCTTTATGGAATGGCTGTCCTT c.2220
A S K A H S I G V W Q D I L Y G M A V L p.740
. | 20 . . . . . g.86438
TCTGTTGCAACTAAT | GCCTTTATTGTTGCATTTACGTCAGACATCATTCCCCGTCTAGTT c.2280
S V A T N | A F I V A F T S D I I P R L V p.760
. . . . . . g.86498
TACTACTATGCTTACTCAACAAATGCCACACAGCCTATGACAGGATATGTGAATAATAGC c.2340
Y Y Y A Y S T N A T Q P M T G Y V N N S p.780
. . . . . . g.86558
CTGTCAGTATTCCTGATAGCTGATTTTCCAAACCACACTGCACCTTCGGAAAAACGAGAC c.2400
L S V F L I A D F P N H T A P S E K R D p.800
. | 21 . . . . . g.87964
TTCATCACTTGCAG | GTACAGAGATTACAGATATCCTCCTGATGACGAGAATAAATATTTT c.2460
F I T C R | Y R D Y R Y P P D D E N K Y F p.820
. . . . . . g.88024
CATAATATGCAATTCTGGCATGTCCTTGCTGCCAAGATGACCTTCATCATTGTTATGGAA c.2520
H N M Q F W H V L A A K M T F I I V M E p.840
| 22 . . . . . . g.91428
| CATGTTGTGTTTTTAGTTAAATTTTTGCTGGCCTGGATGATACCTGATGTTCCAAAAGAT c.2580
| H V V F L V K F L L A W M I P D V P K D p.860
. . . . . . g.91488
GTTGTGGAGAGAATCAAGAGAGAAAAGTTAATGACTATCAAGATTCTCCATGATTTTGAG c.2640
V V E R I K R E K L M T I K I L H D F E p.880
. . . . . . g.91548
CTCAACAAATTAAAAGAGAACTTGGGAATTAATTCTAATGAATTTGCCAAGCATGTCATG c.2700
L N K L K E N L G I N S N E F A K H V M p.900
. . . . g.91590
ATTGAGGAAAACAAAGCACAGCTGGCTAAATCAACACTCTAA c.2742
I E E N K A Q L A K S T L X p.913
. . . . . . g.91650
tcagtatagtgaggaagcagcaggtgatctgccttacttcactttatcctctggttttag c.*60
. . . . . . g.91710
ggccagacgccagaagccatgtgtcaattttaccctttcttttttttttttttctttttt c.*120
. . . . . . g.91770
tttttaaactcaaagtttttatacacttttatagaggccaactttgtgatgttggaaatg c.*180
. . . . . . g.91830
tactacttctctgcttcattgactgggccctctccagatgttgttttctgaggtgctgta c.*240
. . . . . . g.91890
aatgactgttgaaagtgcaggtagaatcagaatactgggaaattatggagtcttgcagtt c.*300
. . . . . . g.91950
tagtaagaaacactggccttgggctgtcccatcactttccagtgcatctatttatttttg c.*360
. . . . . . g.92010
tggtcttctcttgggttatttgatacctccttccccattaagaaaaatgttggggcaaaa c.*420
. . . . . . g.92070
agaaatggatcaaagagactgactgagccctatatatcctatcattttaaaatatgcaaa c.*480
. . . . . . g.92130
tgaattgccaagatcagatgacataagaaaactcacacattaaggtgttaatgtatcata c.*540
. . . . . . g.92190
gcagaggtttattcctaacacattcaactaccatcagaatcccagatagttcttcctggt c.*600
. . . . . . g.92250
aaaggcagaattccttttctcgagactgaaattttgggtttcaacataaaacaacttggt c.*660
. . . . . . g.92310
tcttagagataataatttggttataatagtttcaagactgatcttatctggaaagcaaca c.*720
. . . . . . g.92370
ttatgaagctgttagattgcttcaggttctcaagcaaagacacaatacagaagtaaatgt c.*780
. . . . . . g.92430
gttttcttagtagttaatggatgcaggacaatgtatattgattaatttgttgattttaat c.*840
. . . . . . g.92490
ttagaaaattgttaaattatttcttaaaaatcacttttcttctggaatgccaatttcaca c.*900
. . . . . . g.92550
tcatgaagcctttttgtataagttagatacgagttgtttatgataaacatttctttgctt c.*960
. . . . . . g.92610
taaaataattgcaaatattttaataagtttacaaccttttctattgatgtatcatcttat c.*1020
. . . . . . g.92670
acaatgctcagtgccttgttccaatacctctgacacacaagaagtcatgttgttagctag c.*1080
. . . . . . g.92730
tgatttgatgtgatgtaacatcttaaatgtaagcttgtcttaatgaaattgtcagtgtaa c.*1140
. . . . . . g.92790
taacaactacagtcttgaaaaccaaaagtgaatcaaccaactaagaatgagttcatggac c.*1200
. . . . . . g.92850
ttaataatctaagggggaaaaaatgtttgttgaattattcctctcaaatttaggcttgtg c.*1260
. . . . . . g.92910
ttacatgcacaaaaatccttgttctgttttcacttaaaaaaactaaatatgtataacttt c.*1320
. . . . . . g.92970
gtgtatacacacacacacatctatatatataattattagcactagagggatatagtccag c.*1380
. . . . . . g.93030
ttatgtagtatttaaatctccagtttcaaattataattcacctccaaaagaatagttttt c.*1440
. . . . . . g.93090
taatcacacacataagaaattttatcacaatatttaaaactaatatttcattatctaatg c.*1500
. . . . . . g.93150
ctaataaattattgtggtactgccagtattaaatatatggcagatggtattaactactga c.*1560
. . . . . . g.93210
tcaatagtaagcatacagaactggggattatggattttataaactatgagacagtcaccc c.*1620
. . . . . . g.93270
cagtttggactgggactaatccccagtactgatttgtcatccactgagtagactttatga c.*1680
. . . . . . g.93330
atattttgggtaatttgaaatgatctcattattgaaagatgatttcatatgtagagaaga c.*1740
. . . . . . g.93390
taatatttctttcttgaaaaaacaagtcaggcttaccatgatgtgtgcaaccaatgtagg c.*1800
. . . . . . g.93450
atctttggcttgtcaaatcagattctccattgctatagtgtacagtgcacacagctcata c.*1860
. . . . . . g.93510
ttgcttccttcctgggtgctgataaaaataagaaagagcatggaaattggtttcttgaat c.*1920
. . . . . . g.93570
ataagctttaatttttaaggcttaaaagtattcatagaggtagactgtatgataaataaa c.*1980
. . . . . . g.93630
aacaaatttaattcacaaagttatctgtacactgcagttttaaaatataccaactaaatt c.*2040
. . . . . . g.93690
attgggtttctggaagtgaatggagaaaacagcaagggaagaaatcgtttttaagataag c.*2100
. . . . . . g.93750
taaataattcccatggattgataaatattttccttttaaaatgttatggactgatatttt c.*2160
. . . . . . g.93810
ttattcacctttaaatttcttatcaagaagtttatctttgtttttcagatttaaaaatga c.*2220
. . . . . . g.93870
aatacaggtattcgtcactttcctgaaaccatgctaaccaaaatcagtagccaaaccaat c.*2280
. . . . . . g.93930
tcagatagatgtgtctcatctaattaaacccattggtttttatgggagggctgcattaag c.*2340
. . . . . . g.93990
agcacccaaccaccacatgtaagttgataattaccagcatggcaggtgattttatctgct c.*2400
. . . . . . g.94050
gaccaagcgcatagttttgttttgttttcagaatgttctagggaacatttgagattttat c.*2460
. . . . . . g.94110
gtgaaataaaattttaagtgccaaagccaaaaaaatacttaactcttttcaaaggccctc c.*2520
. . . . . . g.94170
tttcatccttgccttcgtcaactttcctttgcacacaggaagcaaaatctacttcaagac c.*2580
. . . . . . g.94230
atttattttagaggaatccattaagaaaggattgttttacttaaatgaaatgctgtctta c.*2640
. . . . . . g.94290
tttttgctgtgtcttttgacacctcttagctttaacattcttcttttaaccaagccatta c.*2700
. . . . . . g.94350
tgcaaagttatcaaagaagaggagaaggaaaggaggacagatgaaagtgacgggaaatga c.*2760
. . . . . . g.94410
gaaagaagaggagtgaggaaacagttatttccttatgaatcctgtgtgtttctttggaag c.*2820
. . . . . . g.94470
aaagagctgttccgaggaagtttggtccagctgtggttgataagaggtatatctcttaaa c.*2880
. . . . . . g.94530
aaagacacctaatgaaagtgagagaaaagctaaagaaaatttcaatgtgaccactattat c.*2940
. . . . . . g.94590
gtgtcaaaataaaacttagattccaaagtggttttgtagtgttgggtgctatgagtaggt c.*3000
. . . . . . g.94650
atggatctctgttgattgactccagttgaaggtgagaaatctgtaccaatcattcaaaaa c.*3060
. . . . . . g.94710
gggaatctattgttttgaaagaaactctctcatatttcctttaaattgttaatagttgtt c.*3120
. . . . . . g.94770
atgcaactaaagaatgttatgaagaaaaatagcattgcaaaaagtaccattggccagcct c.*3180
. . . . . . g.94830
tacaagtcagccacaatgagtcggtataactactgtgttattctttttctagacaaattt c.*3240
. . . . . . g.94890
tgactcttctacttttatgtgtaataattccagtattctatttatttcagcattatgtga c.*3300
. . . . . . g.94950
aaaatgataagaatgttaaaaagaaaataatagtgtggtttaattggtatgagatacctg c.*3360
. . . . . . g.95010
cttcctcctcctcaaaggtttgactgggtgtatctctcctatgtgtgacattatgtctcc c.*3420
. . . . . . g.95070
tggtgttaacacaggaaatgagtgctcctttttaaaatttctttcttccaagtttttttt c.*3480
. . . . . . g.95130
tccaggaagagaaatatgcagttatgcaggaaaagctctcttaaataatgtgtacataaa c.*3540
. . . . . . g.95190
tctcaagagaatcaaattcacagagtgaataaagtaataatattaaactacattttgaca c.*3600
g.95192
tg c.*3602
(downstream sequence)
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