(used for variant description)
(last modified January 30, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_001278309.1 in the AKAP3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering AKAP3 transcript NM_001278309.1.
(upstream sequence)
g.1137
gtctgcg c.-541
. . . . . . g.1197
caagcgctaaccaagaaacgacggtttcgggtagattgttggttaagaagaaagctggga c.-481
. . . . . . g.1257
aagtgaaggagagggggaagaaaggaagtgaaaagactttggctgttggaatctcagatc c.-421
. . . . . . g.1317
tggaataggctgtataggctatttataatctctaattgccgaggaacctgaagttcagag c.-361
. . . . . . g.1377
ttaaccagtgactgactcaggacatgcaaaatggcaagacccgaggtagaagagctcacc c.-301
. . . . . . | 02 g.4989
tttcctgactctcagtttcctgttccctgaaaatgtaagctaagctggcagccctg | tccc c.-241
. . . . . . g.5049
agcaagggggaggtacatggaaggccacaggaagaaacaagatcttgagctgagcaagaa c.-181
. . . . . . g.5109
catcccagcatcttcattgactttaaaagtatattctggagtcttccgtggttcactatt c.-121
. . | 03 . . . . g.8219
ccagtactacagag | attccttatattacatggcaggaggggggtaaactgagggatagtg c.-61
. . . . . . g.8279
aagacaacaataaattaatcaagagctttcctcatatctcagaacctatcctctgtaaga c.-1
| 04 . . . . . . g.12041
| ATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTAT c.60
| M S E K V D W L Q S Q N G V C K V D V Y p.20
. . . | 05 . . . g.21396
TCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATG | GACACCTCCACGGATCCTGTCAGA c.120
S P G D N Q A Q D W K M | D T S T D P V R p.40
. . . . . . g.21456
GTGCTCAGCTGGCTCCGCAGAGACCTGGAGAAGAGTACAGCAGAGTTCCAAGATGTTCGG c.180
V L S W L R R D L E K S T A E F Q D V R p.60
. . . . . . g.21516
TTCAAACCCGGAGAATCATTTGGTGGGGAAACGTCCAACTCAGGAGACCCACACAAAGGT c.240
F K P G E S F G G E T S N S G D P H K G p.80
. . . . . . g.21576
TTCTCTGTAGACTATTACAACACCACCACCAAGGGCACTCCAGAAAGATTGCATTTTGAG c.300
F S V D Y Y N T T T K G T P E R L H F E p.100
. . . . . . g.21636
ATGACTCACAAAGAGATTCCTTGCCAGGGCCCCAGGGCCCAACTTGGCAACGGGAGTTCA c.360
M T H K E I P C Q G P R A Q L G N G S S p.120
. . . . . . g.21696
GTAGATGAAGTTTCCTTCTATGCTAACCGCCTCACGAATCTAGTCATAGCCATGGCCCGC c.420
V D E V S F Y A N R L T N L V I A M A R p.140
. . . . . . g.21756
AAAGAGATCAATGAGAAGATCGATGGCTCTGAAAACAAATGTGTCTATCAGTCATTGTAC c.480
K E I N E K I D G S E N K C V Y Q S L Y p.160
. . . . . . g.21816
ATGGGGAATGAACCCACACCCACCAAAAGCCTCAGTAAGATAGCATCAGAGCTTGTGAAT c.540
M G N E P T P T K S L S K I A S E L V N p.180
. . . . . . g.21876
GAGACCGTCTCTGCATGTTCCAGGAATGCTGCCCCAGACAAGGCTCCTGGCTCTGGAGAC c.600
E T V S A C S R N A A P D K A P G S G D p.200
. . . . . . g.21936
AGAGTCTCGGGATCATCACAAAGTCCCCCAAATTTGAAATACAAGTCCACTTTGAAGATC c.660
R V S G S S Q S P P N L K Y K S T L K I p.220
. . . . . . g.21996
AAGGAGAGCACCAAAGAAAGACAGGGTCCAGATGACAAGCCTCCTTCTAAGAAGTCTTTC c.720
K E S T K E R Q G P D D K P P S K K S F p.240
. . . . . . g.22056
TTCTATAAGGAAGTGTTTGAATCTCGTAATGGAGATTATGCCAGAGAGGGTGGAAGGTTC c.780
F Y K E V F E S R N G D Y A R E G G R F p.260
. . . . . . g.22116
TTTCCTCGGGAGAGAAAGAGGTTTCGAGGGCAGGAAAGGCCTGATGACTTTACGGCTTCT c.840
F P R E R K R F R G Q E R P D D F T A S p.280
. . . . . . g.22176
GTTAGTGAAGGGATCATGACCTATGCTAACAGTGTGGTATCTGATATGATGGTCTCCATC c.900
V S E G I M T Y A N S V V S D M M V S I p.300
. . . . . . g.22236
ATGAAGACACTGAAGATCCAAGTGAAAGACACAACCATTGCCACCATCCTACTGAAGAAG c.960
M K T L K I Q V K D T T I A T I L L K K p.320
. . . . . . g.22296
GTTCTGCTCAAGCATGCAAAAGAGGTGGTCTCGGATCTCATCGACTCCTTCTTGAGGAAT c.1020
V L L K H A K E V V S D L I D S F L R N p.340
. . . . . . g.22356
CTCCACAGCGTCACAGGGACCCTCATGACTGACACACAGTTTGTCTCGGCTGTGAAAAGA c.1080
L H S V T G T L M T D T Q F V S A V K R p.360
. . . . . . g.22416
ACTGTCTTCTCTCATGGAAGCCAAAAGGCCACAGATATCATGGATGCCATGCTAAGGAAG c.1140
T V F S H G S Q K A T D I M D A M L R K p.380
. . . . . . g.22476
CTGTACAATGTAATGTTTGCCAAGAAAGTCCCTGAGCATGTCAGGAAAGCCCAAGACAAG c.1200
L Y N V M F A K K V P E H V R K A Q D K p.400
. . . . . . g.22536
GCTGAGAGTTATTCCCTCATCTCCATGAAAGGAATGGGTGATCCTAAAAACCGAAATGTG c.1260
A E S Y S L I S M K G M G D P K N R N V p.420
. . . . . . g.22596
AACTTTGCCATGAAATCTGAAACTAAATTGAGAGAAAAAATGTATTCTGAACCCAAATCA c.1320
N F A M K S E T K L R E K M Y S E P K S p.440
. . . . . . g.22656
GAGGAGGAGACTTGTGCGAAAACTCTGGGTGAGCACATTATCAAAGAGGGGCTTACCTTG c.1380
E E E T C A K T L G E H I I K E G L T L p.460
. . . . . . g.22716
TGGCATAAAACTCAGCAGAAAGAATGTAAATCTCTAGGTTTCCAGCATGCAGCATTTGAA c.1440
W H K T Q Q K E C K S L G F Q H A A F E p.480
. . . . . . g.22776
GCTCCCAACACACAGCGTAAGCCTGCATCAGACATTTCCTTTGAGTACCCTGAAGATATT c.1500
A P N T Q R K P A S D I S F E Y P E D I p.500
. . . . . . g.22836
GGCAACCTCAGCCTTCCTCCATATCCTCCAGAGAAACCTGAGAATTTTATGTATGATTCA c.1560
G N L S L P P Y P P E K P E N F M Y D S p.520
. . . . . . g.22896
GACTCCTGGGCCGAGGACCTGATCGTGTCTGCCCTGCTTCTGATTCAATATCACCTGGCC c.1620
D S W A E D L I V S A L L L I Q Y H L A p.540
. . . . . . g.22956
CAGGGAGGAAGAAGGGATGCACGGAGCTTCGTTGAAGCTGCTGGCACCACCAACTTTCCT c.1680
Q G G R R D A R S F V E A A G T T N F P p.560
. . . . . . g.23016
GCCAATGAACCTCCTGTAGCTCCCGATGAATCTTGCCTTAAGTCTGCTCCCATTGTAGGT c.1740
A N E P P V A P D E S C L K S A P I V G p.580
. . . . . . g.23076
GACCAAGAACAAGCAGAAAAGAAGGACCTAAGGAGTGTTTTCTTTAATTTCATCCGGAAC c.1800
D Q E Q A E K K D L R S V F F N F I R N p.600
. . . . . . g.23136
TTACTTAGTGAGACCATTTTCAAGCGTGACCAGAGCCCTGAACCCAAGGTGCCGGAACAG c.1860
L L S E T I F K R D Q S P E P K V P E Q p.620
. . . . . . g.23196
CCAGTTAAGGAAGATAGGAAGTTGTGTGAAAGACCGTTGGCGTCTTCTCCCCCCAGGCTA c.1920
P V K E D R K L C E R P L A S S P P R L p.640
. . . . . . g.23256
TATGAGGATGATGAGACCCCTGGTGCCCTTTCTGGGCTGACCAAGATGGCTGTCAGCCAG c.1980
Y E D D E T P G A L S G L T K M A V S Q p.660
. . . . . . g.23316
ATAGATGGCCACATGAGTGGGCAGATGGTAGAACATCTGATGAACTCAGTGATGAAGCTG c.2040
I D G H M S G Q M V E H L M N S V M K L p.680
. . . . . . g.23376
TGTGTCATCATTGCTAAGTCCTGTGATGCTTCGTTGGCAGAGCTGGGAGATGACAAGTCT c.2100
C V I I A K S C D A S L A E L G D D K S p.700
. . . . . . g.23436
GGAGATGCCAGTAGGCTAACTTCGGCCTTCCCAGATAGTTTATATGAGTGCTTACCAGCC c.2160
G D A S R L T S A F P D S L Y E C L P A p.720
. . . . . . g.23496
AAGGGCACAGGGTCAGCAGAAGCTGTCCTGCAGAATGCCTATCAAGCTATCCATAATGAA c.2220
K G T G S A E A V L Q N A Y Q A I H N E p.740
. . . . . . g.23556
ATGAGAGGCACATCAGGACAGCCCCCTGAAGGGTGTGCAGCACCCACGGTGATTGTCAGC c.2280
M R G T S G Q P P E G C A A P T V I V S p.760
. . . . . . g.23616
AATCACAACCTAACGGACACAGTTCAGAACAAGCAACTCCAAGCCGTCCTTCAATGGGTA c.2340
N H N L T D T V Q N K Q L Q A V L Q W V p.780
. . . . . . g.23676
GCTGCCTCTGAGCTCAATGTCCCTATTTTGTATTTTGCTGGTGATGATGAAGGGATCCAG c.2400
A A S E L N V P I L Y F A G D D E G I Q p.800
| 06 . . . . . . g.34337
GAGAAG | CTACTTCAGCTCTCAGCTGCTGCTGTGGACAAAGGATGCAGTGTGGGCGAGGTT c.2460
E K | L L Q L S A A A V D K G C S V G E V p.820
. . . . . . g.34397
CTGCAGTCGGTGCTGCGCTATGAGAAGGAGCGCCAGCTGAATGAGGCGGTGGGGAATGTC c.2520
L Q S V L R Y E K E R Q L N E A V G N V p.840
. . . . g.34439
ACACCGCTGCAGCTGCTGGACTGGCTGATGGTGAACCTGTAA c.2562
T P L Q L L D W L M V N L X p.853
. . . . . . g.34499
tcggcaaccccactgctttcccctcttctggcagtggggccggcccttatccccgccctt c.*60
. . . . . . g.34559
ctttctcacttccacatctccccctctatatcctcacagagccctaacattatcttcaca c.*120
. . . . . . g.34619
ccactctcatcaaagacatgtcatcttgtgctagccactggattttgcagattttcctgt c.*180
. . . . . g.34670
ccatgcaagcaaggacgtaaaattaaaaaattacaattaaagggctccaca c.*231
(downstream sequence)
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