(used for variant description)
(last modified July 24, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_003664.3 in the AP3B1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007268.1, covering AP3B1 transcript NM_003664.3.
(upstream sequence)
g.5005
gagtc c.-121
. . . . . . g.5065
cggaagcgcctgcgcgcgctcctccgtacgagaactagttttgttccgtgccctctggac c.-61
. . . . . . g.5125
tggaaccttttggagagaacccccggcaggaccaaccccgcacccgccagcaccgcggca c.-1
. . . . . . g.5185
ATGTCCAGCAATAGTTTTCCTTACAATGAGCAGTCCGGAGGAGGGGAGGCGACGGAGCTG c.60
M S S N S F P Y N E Q S G G G E A T E L p.20
. . . . . . g.5245
GGTCAGGAGGCGACCTCAACCATTTCCCCCTCGGGGGCCTTCGGCCTCTTTAGCAGCGAT c.120
G Q E A T S T I S P S G A F G L F S S D p.40
| 02 . . . . . g.32161
TTGAAGAA | GAATGAAGATCTAAAGCAAATGTTAGAGAGCAACAAAGATTCTGCTAAACTG c.180
L K K | N E D L K Q M L E S N K D S A K L p.60
. . | 03 . . . . g.58804
GATGCTATGAAGCGGATTGTTGGG | ATGATTGCAAAAGGGAAAAATGCATCTGAACTGTTT c.240
D A M K R I V G | M I A K G K N A S E L F p.80
. . . | 04 . . g.71486
CCTGCTGTTGTGAAGAATGTGGCCAGTAAAAATATTGAG | ATCAAGAAGTTGGTATATGTT c.300
P A V V K N V A S K N I E | I K K L V Y V p.100
. . . . . . g.71546
TACCTGGTTCGATATGCTGAAGAACAGCAGGATCTTGCACTCCTGTCCATAAGCACTTTT c.360
Y L V R Y A E E Q Q D L A L L S I S T F p.120
. | 05 . . . . . g.72217
CAGCGAGCTCTGAAG | GACCCAAACCAACTAATTCGTGCAAGCGCTTTGAGAGTTCTGTCA c.420
Q R A L K | D P N Q L I R A S A L R V L S p.140
. . . . . . g.72277
AGTATTAGAGTGCCAATTATTGTACCTATCATGATGCTTGCTATTAAGGAAGCTTCTGCT c.480
S I R V P I I V P I M M L A I K E A S A p.160
. . . . . | 06 . g.74100
GACTTATCACCATATGTTAGGAAGAATGCAGCCCATGCAATACAAAAATTATACAG | CCTT c.540
D L S P Y V R K N A A H A I Q K L Y S | L p.180
. . . . . . g.74160
GATCCAGAGCAGAAGGAAATGTTAATTGAAGTAATTGAAAAACTTCTGAAAGATAAAAGC c.600
D P E Q K E M L I E V I E K L L K D K S p.200
| 07 . . . . . . g.83524
ACA | TTGGTAGCTGGCAGTGTTGTGATGGCTTTTGAAGAAGTATGCCCGGACAGAATAGAT c.660
T | L V A G S V V M A F E E V C P D R I D p.220
. . . . . . g.83584
CTGATTCATAAAAATTACCGCAAGCTATGTAACTTACTAGTGGATGTTGAAGAGTGGGGG c.720
L I H K N Y R K L C N L L V D V E E W G p.240
. . . . . . g.83644
CAGGTTGTCATAATCCACATGCTAACTCGATATGCTCGGACACAGTTTGTCAGCCCTTGG c.780
Q V V I I H M L T R Y A R T Q F V S P W p.260
| 08 . . . . . . g.118096
AAAGAG | GGTGATGAATTAGAAGACAATGGAAAGAATTTCTACGAATCTGATGATGATCAG c.840
K E | G D E L E D N G K N F Y E S D D D Q p.280
. . . . . . g.118156
AAGGAAAAGACTGACAAAAAGAAGAAGCCGTATACTATGGATCCAGATCATAGACTCTTA c.900
K E K T D K K K K P Y T M D P D H R L L p.300
. . . . | 09 . . g.122286
ATTAGAAATACAAAGCCTTTGCTTCAGAGCAGGAATGCTGCG | GTGGTTATGGCAGTTGCT c.960
I R N T K P L L Q S R N A A | V V M A V A p.320
. . . . . . g.122346
CAGCTGTATTGGCACATATCACCAAAATCTGAAGCTGGCATAATTTCTAAATCACTAGTG c.1020
Q L Y W H I S P K S E A G I I S K S L V p.340
. . | 10 . . . . g.123906
CGTTTACTTCGTAGCAATAG | GGAGGTGCAGTATATTGTCCTACAAAATATAGCAACTATG c.1080
R L L R S N R | E V Q Y I V L Q N I A T M p.360
. | 11 . . . . . g.124052
TCAATTCAAAGAAAG | GGGATGTTTGAACCTTATCTGAAGAGTTTCTATGTTAGGTCAACT c.1140
S I Q R K | G M F E P Y L K S F Y V R S T p.380
. . | 12. . . . g.134065
GATCCAACTATGATCAAGACACTGAAG | CTTGAAATTTTGACAAACTTGGCAAATGAAGCC c.1200
D P T M I K T L K | L E I L T N L A N E A p.400
. . . | 13 . . . g.136783
AACATATCAACTCTTCTTCGAGAATTTCAG | ACCTATGTGAAAAGCCAGGATAAACAATTT c.1260
N I S T L L R E F Q | T Y V K S Q D K Q F p.420
. . . . . . g.136843
GCAGCAGCCACTATTCAGACTATAGGCAGATGTGCAACCAACATCTTGGAAGTCACTGAC c.1320
A A A T I Q T I G R C A T N I L E V T D p.440
. . . . | 14 . . g.143354
ACGTGCCTCAATGGCTTGGTCTGTCTGCTGTCCAACAGGGATG | AAATAGTTGTTGCTGAA c.1380
T C L N G L V C L L S N R D E | I V V A E p.460
. . . . . . g.143414
AGTGTGGTTGTTATAAAGAAATTACTGCAAATGCAACCTGCACAACATGGTGAAATTATT c.1440
S V V V I K K L L Q M Q P A Q H G E I I p.480
. . . | 15 . . . g.158412
AAACATATGGCCAAACTCCTGGACAGTATCACT | GTTCCTGTTGCTAGAGCAAGTATTCTT c.1500
K H M A K L L D S I T | V P V A R A S I L p.500
. . . . . . g.158472
TGGCTAATTGGAGAAAACTGTGAACGAGTTCCTAAAATTGCCCCTGATGTTTTGAGGAAG c.1560
W L I G E N C E R V P K I A P D V L R K p.520
. . . . . . g.158532
ATGGCTAAAAGCTTCACTAGTGAAGATGATCTGGTAAAACTGCAGATATTAAATCTGGGA c.1620
M A K S F T S E D D L V K L Q I L N L G p.540
. . . | 16 . . . g.170427
GCAAAATTGTATTTAACCAACTCCAAACAG | ACAAAATTGCTTACCCAGTACATATTAAAT c.1680
A K L Y L T N S K Q | T K L L T Q Y I L N p.560
. . . . . . g.170487
CTCGGCAAGTATGATCAAAACTACGACATCAGAGACCGTACAAGATTTATTAGGCAGCTT c.1740
L G K Y D Q N Y D I R D R T R F I R Q L p.580
. . . . . . g.170547
ATTGTTCCGAATGTAAAGAGTGGAGCTTTAAGTAAATATGCCAAAAAAATATTCCTAGCA c.1800
I V P N V K S G A L S K Y A K K I F L A p.600
. . . | 17. . . g.171567
CAAAAGCCTGCACCACTGCTTGAGTCTCCTTTTAAAG | ATAGAGATCATTTCCAGCTTGGC c.1860
Q K P A P L L E S P F K D | R D H F Q L G p.620
. . . . . . g.171627
ACCTTATCTCATACTCTCAACATTAAAGCTACTGGGTACCTGGAATTATCTAATTGGCCA c.1920
T L S H T L N I K A T G Y L E L S N W P p.640
. . . . | 18 . g.183482
GAGGTGGCGCCCGACCCATCAGTTCGAAATGTAGAAGTAATAGAGTTG | GCAAAAGAATGG c.1980
E V A P D P S V R N V E V I E L | A K E W p.660
. . . . . . g.183542
ACCCCAGCAGGAAAAGCAAAGCAAGAGAATTCTGCTAAGAAGTTTTATTCTGAATCTGAG c.2040
T P A G K A K Q E N S A K K F Y S E S E p.680
. . . | 19. . . g.185804
GAAGAGGAGGACTCTTCTGATAGTAGCAGTGACAGTG | AGAGTGAATCTGGAAGTGAAAGT c.2100
E E E D S S D S S S D S E | S E S G S E S p.700
. . . . . . g.185864
GGAGAACAAGGCGAAAGTGGGGAGGAAGGAGACAGCAATGAGGACAGCAGTGAGGACTCC c.2160
G E Q G E S G E E G D S N E D S S E D S p.720
. . . . . . g.185924
TCCAGTGAGCAGGACAGTGAGAGTGGACGGGAGTCAGGCCTAGAAAACAAAAGAACAGCC c.2220
S S E Q D S E S G R E S G L E N K R T A p.740
. . | 20 . . . g.189381
AAGAGGAACTCAAAAGCCAAAGGAAAAAG | TGATTCTGAAGATGGGGAGAAGGAAAATGAA c.2280
K R N S K A K G K S | D S E D G E K E N E p.760
. . . . . . g.189441
AAATCTAAAACTTCAGATTCTTCAAATGACGAATCTAGTTCAATAGAAGACAGTTCTTCC c.2340
K S K T S D S S N D E S S S I E D S S S p.780
. . . . . | 21. g.198682
GATTCTGAATCAGAGTCAGAACCTGAAAGTGAATCTGAATCCAGAAGAGTCACTAAG | GAG c.2400
D S E S E S E P E S E S E S R R V T K | E p.800
. . . . . . g.198742
AAAGAAAAGAAAACAAAGCAAGATAGAACTCCTCTTACCAAAGATGTTTCACTTCTAGAT c.2460
K E K K T K Q D R T P L T K D V S L L D p.820
. | 22 . . . . . g.210255
CTGGATGATT | TTAACCCAGTATCCACTCCAGTTGCACTTCCCACACCAGCTCTTTCTCCA c.2520
L D D F | N P V S T P V A L P T P A L S P p.840
. . . . . | 23. g.260433
AGTTTGATGGCTGATCTTGAAGGTTTACACTTGTCAACTTCCTCTTCAGTCATCAGT | GTC c.2580
S L M A D L E G L H L S T S S S V I S | V p.860
. . . . . . g.260493
AGTACTCCTGCATTTGTACCAACGAAAACTCACGTGCTGCTTCATCGAATGAGTGGAAAA c.2640
S T P A F V P T K T H V L L H R M S G K p.880
. . . . . . g.260553
GGACTAGCTGCCCATTATTTCTTTCCAAGACAGCCTTGCATTTTTGGTGATAAGATGGTC c.2700
G L A A H Y F F P R Q P C I F G D K M V p.900
. . . . . . g.260613
TCTATACAAATAACACTGAATAACACTACTGATCGAAAGATAGAAAATATCCACATAGGG c.2760
S I Q I T L N N T T D R K I E N I H I G p.920
. . . . | 24 . g.265270
GAAAAAAAACTTCCTATAGGCATGAAAATGCATGTTTTTAATCCAATAG | ACTCTCTTGAG c.2820
E K K L P I G M K M H V F N P I D | S L E p.940
. . . . . . g.265330
CCTGAGGGATCCATTACAGTTTCAATGGGTATTGACTTTTGTGATTCTACTCAGACTGCC c.2880
P E G S I T V S M G I D F C D S T Q T A p.960
. | 25 . . . . . g.278961
AGTTTCCAGTTGTG | TACCAAGGATGATTGCTTCAATGTTAATATTCAGCCACCTGTTGGA c.2940
S F Q L C | T K D D C F N V N I Q P P V G p.980
. . . . . | 26 . g.284164
GAACTGCTTTTACCTGTGGCCATGTCAGAGAAAGATTTTAAGAAAGAGCAAG | GAGTGCTA c.3000
E L L L P V A M S E K D F K K E Q G | V L p.1000
. . . . . . g.284224
ACAGGAATGAATGAAACTTCTGCTGTAATCATTGCTGCACCACAGAATTTCACTCCCTCT c.3060
T G M N E T S A V I I A A P Q N F T P S p.1020
. . . . . . g.284284
GTGATCTTTCAGAAGGTTGTAAATGTAGCCAATGTAGGTGCAGTCCCTTCTGGCCAGGAT c.3120
V I F Q K V V N V A N V G A V P S G Q D p.1040
. | 27 . . . . . g.296698
AATATACACAG | GTTTGCAGCTAAAACTGTGCACAGTGGGTCATTGATGCTAGTCACAGTG c.3180
N I H R | F A A K T V H S G S L M L V T V p.1060
. . . . . . g.296758
GAACTGAAGGAAGGCTCTACAGCCCAGCTTATCATAAACACTGAGAAAACTGTGATTGGC c.3240
E L K E G S T A Q L I I N T E K T V I G p.1080
. . . . g.296803
TCTGTTCTGCTGCGGGAACTGAAGCCTGTCCTGTCTCAGGGGTAA c.3285
S V L L R E L K P V L S Q G X p.1094
. . . . . . g.296863
cctgcttacatctggactttagaatctggcacacaacaaaagtgcctggcatccactact c.*60
. . . . . . g.296923
gctgcctttcatttataataatagcccttccatctggcagtgggggtagaatacactctt c.*120
. . . . . . g.296983
gacattcttgtctcctgctttagaatgctagtgtgtatctatcatgtatgcaatactttc c.*180
. . . . . . g.297043
cccctttttgctttgctaaccaaagagcatatattttactgtcagttgtctcaactcttg c.*240
. . . . . . g.297103
aatccatgtggcgttttctctgtcctgctgcttcttttggcctcctcgttttccttctct c.*300
. . . . . . g.297163
ttttcgacaatggtagacatgaatgagatatttaaagttcattggaaatcttcttcccta c.*360
. . . . . . g.297223
cagcagtaagcaaaaattagcaaagagatagtctaaatggcctctcagcttggtatgtga c.*420
. . . . . . g.297283
aaatgagatcacatactttttaaatccaaatacaaaagcatagtctctgcaagattttgt c.*480
. . . . . . g.297343
tctttgaatttcttgatattgtaattgattattgataactgtcatcatgaaattatctct c.*540
. . . g.297379
caataataagataaataaactagcatatgaatcata c.*576
(downstream sequence)
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