(used for variant description)
(last modified February 14, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_006594.3 in the AP4B1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031901.1, covering AP4B1 transcript NM_006594.3.
(upstream sequence)
. g.5014
ttccgcagaaagca c.-241
. . . . . . g.5074
agattgggcctatccgcgatgagaacggcgtggagggggaattaaggctggaactggaga c.-181
. . . . . . g.5134
gggaggggtctgcggtcagtcggacgcggcgctggaaatccggcggaggacctagaagta c.-121
. . . . . | 02 . g.5342
gcgggagcgatctgtgggcggggcgaacggcctgccggccgacg | gctcccacatcaggac c.-61
. . . . . . g.5402
gagaaggagccctcgagttaccgtgggagctgtgggagctgccctgtgactcttaggaag c.-1
. . . . . . g.5462
ATGCCGTACCTTGGCTCCGAGGACGTGGTGAAGGAGCTGAAGAAGGCTCTGTGCAATCCT c.60
M P Y L G S E D V V K E L K K A L C N P p.20
. . . . . | 03 . g.7264
CACATTCAAGCTGATAGGCTGCGCTACCGGAATGTCATCCAGCGAGTGATTAG | GTACATG c.120
H I Q A D R L R Y R N V I Q R V I R | Y M p.40
. . . . . . g.7324
ACTCAAGGCTTGGACATGTCTGGTGTTTTTATGGAAATGGTGAAGGCCAGTGCCACTGTA c.180
T Q G L D M S G V F M E M V K A S A T V p.60
. . . . . . g.7384
GATATTGTCCAGAAGAAGTTGGTTTATCTGTACATGTGCACATATGCTCCCCTGAAACCA c.240
D I V Q K K L V Y L Y M C T Y A P L K P p.80
. . . . . . g.7444
GATCTGGCTCTCCTGGCCATCAATACGCTGTGCAAAGACTGCTCAGACCCCAATCCAATG c.300
D L A L L A I N T L C K D C S D P N P M p.100
. . . | 04 . . g.8256
GTGCGAGGGCTGGCGTTACGGAGCATGTGTAGCCTCAG | GATGCCTGGTGTGCAGGAGTAT c.360
V R G L A L R S M C S L R | M P G V Q E Y p.120
. . . . . . g.8316
ATACAACAGCCTATTCTCAATGGTCTGCGGGATAAGGCTTCATATGTCAGGAGAGTGGCA c.420
I Q Q P I L N G L R D K A S Y V R R V A p.140
. . . . | 05 . g.8747
GTCCTTGGATGTGCCAAGATGCATAATCTTCATGGAGACTCTGAAGTAG | ATGGTGCCCTG c.480
V L G C A K M H N L H G D S E V D | G A L p.160
. . . . . . g.8807
GTAAATGAATTATACAGTTTGCTGCGTGACCAGGATCCAATTGTAGTTGTGAACTGCTTG c.540
V N E L Y S L L R D Q D P I V V V N C L p.180
. . . . . . g.8867
AGGTCTCTAGAGGAAATTCTGAAACAGGAAGGAGGCGTTGTCATCAATAAGCCCATTGCT c.600
R S L E E I L K Q E G G V V I N K P I A p.200
. | 06. . . . . g.9762
CACCATCTCTTAAATCG | AATGTCAAAACTGGACCAATGGGGCCAGGCTGAAGTATTGAAC c.660
H H L L N R | M S K L D Q W G Q A E V L N p.220
. . . . . . g.9822
TTTCTGCTACGCTACCAACCCCGCAGTGAGGAAGAACTATTTGACATTCTCAATCTGTTG c.720
F L L R Y Q P R S E E E L F D I L N L L p.240
. . . . . . g.9882
GATAGTTTCCTCAAGAGCAGTAGCCCAGGTGTGGTGATGGGAGCTACCAAACTTTTTCTG c.780
D S F L K S S S P G V V M G A T K L F L p.260
. . . . . . g.9942
ATCTTGGCAAAAATGTTTCCCCACGTACAAACTGATGTCCTTGTGCGGGTCAAGGGACCT c.840
I L A K M F P H V Q T D V L V R V K G P p.280
. . . . . . g.10002
TTGCTAGCTGCCTGTTCTTCAGAGAGCCGTGAGCTCTGTTTTGTTGCTCTTTGTCATGTA c.900
L L A A C S S E S R E L C F V A L C H V p.300
. . . . . . g.10062
CGCCAGATCTTGCATAGTTTACCAGGTCACTTTAGCAGCCACTACAAAAAGTTTTTTTGC c.960
R Q I L H S L P G H F S S H Y K K F F C p.320
. . . . . . g.10122
TCCTACTCGGAGCCCCACTACATCAAACTACAGAAAGTGGAGGTGCTGTGTGAACTGGTG c.1020
S Y S E P H Y I K L Q K V E V L C E L V p.340
. . . . . . g.10182
AACGATGAGAATGTGCAGCAGGTGCTAGAGGAGCTTCGAGGGTACTGCACGGATGTGTCT c.1080
N D E N V Q Q V L E E L R G Y C T D V S p.360
. . . | 07 . . . g.11344
GCGGACTTTGCACAGGCTGCCATCTTTGCCATAG | GTGGCATTGCCAGGACTTACACAGAT c.1140
A D F A Q A A I F A I G | G I A R T Y T D p.380
. . . . . | 08 g.12178
CAATGTGTTCAGATTTTAACAGAGTTGCTGGGTCTTCGACAAGAGCACATTACCACAG | TG c.1200
Q C V Q I L T E L L G L R Q E H I T T V | p.400
. . . . . . g.12238
GTGGTGCAGACTTTCCGAGACCTGGTTTGGTTGTGTCCTCAGTGTACTGAAGCTGTATGT c.1260
V V Q T F R D L V W L C P Q C T E A V C p.420
. . . . | 09 . . g.13672
CAGGCCCTGCCCGGCTGTGAAGAGAACATTCAAGATAGTGAG | GGGAAGCAAGCACTTATT c.1320
Q A L P G C E E N I Q D S E | G K Q A L I p.440
. . . . . . g.13732
TGGCTACTTGGTGTCCATGGGGAAAGAATTCCTAATGCTCCTTATGTGTTAGAGGACTTT c.1380
W L L G V H G E R I P N A P Y V L E D F p.460
. . . . . . g.13792
GTTGAGAATGTGAAGTCGGAAACATTTCCAGCTGTTAAGATGGAGCTGCTCACTGCTTTG c.1440
V E N V K S E T F P A V K M E L L T A L p.480
. . . . . . g.13852
CTGCGCCTTTTCCTCTCCCGACCTGCTGAGTGCCAGGACATGCTAGGACGTTTGTTGTAT c.1500
L R L F L S R P A E C Q D M L G R L L Y p.500
. | 10 . . . . . g.14131
TACTGCATAG | AGGAAGAAAAAGATATGGCTGTACGGGACCGAGGTCTCTTCTATTATCGC c.1560
Y C I E | E E K D M A V R D R G L F Y Y R p.520
. . . . . . g.14191
CTCCTCTTAGTTGGCATTGATGAAGTTAAGCGGATTCTGTGTAGCCCTAAATCTGACCCT c.1620
L L L V G I D E V K R I L C S P K S D P p.540
. . . . . . g.14251
ACTCTTGGACTTTTGGAGGATCCGGCAGAAAGACCTGTGAATAGCTGGGCCTCAGACTTC c.1680
T L G L L E D P A E R P V N S W A S D F p.560
. . . . . . g.14311
AACACACTGGTGCCAGTGTATGGCAAAGCCCACTGGGCAACTATCTCTAAATGCCAGGGG c.1740
N T L V P V Y G K A H W A T I S K C Q G p.580
. . . . . | 11 . g.14635
GCAGAGCGTTGTGACCCAGAGCTTCCTAAAACTTCATCCTTTGCCGCATCAG | GACCCTTG c.1800
A E R C D P E L P K T S S F A A S G | P L p.600
. . . . . . g.14695
ATTCCTGAAGAGAACAAGGAGAGGGTACAAGAACTCCCTGATTCTGGAGCCCTCATGCTA c.1860
I P E E N K E R V Q E L P D S G A L M L p.620
. . . . . . g.14755
GTCCCCAATCGCCAGCTTACTGCTGATTATTTTGAGAAAACTTGGCTTAGCCTTAAAGTT c.1920
V P N R Q L T A D Y F E K T W L S L K V p.640
. . . . . . g.14815
GCTCATCAGCAAGTGTTGCCTTGGCGGGGAGAATTCCATCCTGACACCCTCCAGATGGCT c.1980
A H Q Q V L P W R G E F H P D T L Q M A p.660
. . . . . . g.14875
CTTCAAGTAGTGAACATCCAGACCATCGCAATGAGTAGGGCTGGGTCTCGGCCATGGAAA c.2040
L Q V V N I Q T I A M S R A G S R P W K p.680
. . . . . . g.14935
GCATACCTCAGTGCTCAGGATGATACTGGCTGTCTGTTCTTAACAGAACTGCTATTGGAG c.2100
A Y L S A Q D D T G C L F L T E L L L E p.700
. . . . . . g.14995
CCTGGAAACTCAGAAATGCAGATCTCTGTGAAACAAAATGAAGCAAGAACGGAGACGCTG c.2160
P G N S E M Q I S V K Q N E A R T E T L p.720
. . . . . . g.15055
AATAGTTTTATTTCTGTATTAGAAACTGTGATTGGAACAATTGAAGAAATAAAATCATAA c.2220
N S F I S V L E T V I G T I E E I K S X p.739
. . . . . . g.15115
cagagtcttgttgcttgtctagagtaagatgaataactattacactttcttagtctttcc c.*60
. . . . . . g.15175
tattagagctgccagtaagtccagataatatcagatacaaaggagagtggaaaatctaga c.*120
. . . . . . g.15235
aatcaggattcttaagtttttggccaaagaacattgattcattcctttcattcctattgg c.*180
. . . . . . g.15295
caattgaccccatttttcagtgatgatgttgtagaggttaatgttggtaaggagatgcgt c.*240
. . . . . . g.15355
tgaggatgggatttggattatttcctaatcaattttaggaattgtgttagtaattaaaga c.*300
. g.15372
tggctgatgtgtggaaa c.*317
(downstream sequence)
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