(used for variant description)
(last modified July 21, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_015665.5 in the AAAS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016775.1, covering AAAS transcript NM_015665.5.
(upstream sequence)
. . . . g.5043
cccgttagtcttttcttcacttccgttgagttccgcctcgccg c.-121
. . . . . . g.5103
tttgtcccttgcggtacccgtccgcatacgaatctagcccgggaaccgagttgcgggagt c.-61
. . . . . . g.5163
gcggtctgtgccgttccggccaggagtttgccgactgcagacgtcctgcgaaccggcaag c.-1
. . . . . . g.5223
ATGTGCTCTCTGGGGTTGTTCCCTCCTCCACCGCCTCGGGGTCAAGTCACCCTATATGAG c.60
M C S L G L F P P P P P R G Q V T L Y E p.20
. . . . . . g.5283
CACAATAACGAGCTGGTGACGGGCAGTAGCTATGAGAGCCCGCCCCCCGACTTCCGGGGC c.120
H N N E L V T G S S Y E S P P P D F R G p.40
| 02 . . . . . . g.5993
CAG | TGGATCAATCTTCCTGTCCTACAACTGACAAAGGATCCCCTAAAGACCCCTGGAAGG c.180
Q | W I N L P V L Q L T K D P L K T P G R p.60
. . . . . . g.6053
CTGGACCATGGCACAAGAACTGCCTTCATCCATCACCGGGAGCAAGTGTGGAAGAGATGC c.240
L D H G T R T A F I H H R E Q V W K R C p.80
. | 03 . . . . . g.10895
ATCAACATTTG | GCGTGATGTGGGCCTTTTTGGGGTGCTAAATGAAATTGCAAACTCAGAA c.300
I N I W | R D V G L F G V L N E I A N S E p.100
| 04. . . . . . g.11255
GAAGAGG | TGTTTGAGTGGGTGAAGACGGCATCCGGCTGGGCCCTGGCACTCTGTCGATGG c.360
E E V | F E W V K T A S G W A L A L C R W p.120
. . . | 05 . . g.11509
GCCTCTTCCCTCCATGGGTCCCTGTTCCCCCATCTGTCT | CTCAGGAGCGAAGATCTGATC c.420
A S S L H G S L F P H L S | L R S E D L I p.140
. . | 06 . . . . g.11813
GCTGAATTTGCCCAAGTCACAAATTG | GTCCAGCTGCTGCTTGCGTGTCTTTGCATGGCAC c.480
A E F A Q V T N W | S S C C L R V F A W H p.160
. . . . . . g.11873
CCCCACACCAACAAGTTTGCAGTGGCCCTGCTAGATGACTCAGTCCGTGTGTATAATGCC c.540
P H T N K F A V A L L D D S V R V Y N A p.180
| 07 . . . . . . g.12242
AGCAG | CACCATAGTCCCCTCCCTGAAGCACCGGCTGCAGCGAAATGTGGCGTCTCTGGCC c.600
S S | T I V P S L K H R L Q R N V A S L A p.200
. . . . . . g.12302
TGGAAGCCCCTTAGTGCCTCTGTCTTGGCTGTGGCCTGCCAGAGCTGCATTCTTATCTGG c.660
W K P L S A S V L A V A C Q S C I L I W p.220
. . | 08 . . . g.16938
ACCCTGGACCCTACCTCCTTGTCTACCCG | ACCCTCTTCTGGCTGTGCCCAAGTGCTGTCT c.720
T L D P T S L S T R | P S S G C A Q V L S p.240
. . . . . . g.16998
CACCCTGGGCATACACCTGTTACCAGCTTGGCCTGGGCCCCCAGTGGGGGGCGGCTGCTC c.780
H P G H T P V T S L A W A P S G G R L L p.260
. . . | 09 . . . g.17377
TCAGCTTCACCCGTGGATGCTGCTATCCGG | GTATGGGATGTCTCAACAGAGACCTGTGTC c.840
S A S P V D A A I R | V W D V S T E T C V p.280
. . . . . . g.17437
CCCCTTCCCTGGTTCCGAGGAGGTGGGGTGACCAACCTGCTCTGGTCCCCAGACGGCAGC c.900
P L P W F R G G G V T N L L W S P D G S p.300
. . . | 10 . . . g.17633
AAAATCCTGGCTACCACTCCTTCAGCTGTCTTTCG | AGTCTGGGAGGCCCAGATGTGGACT c.960
K I L A T T P S A V F R | V W E A Q M W T p.320
. . . | 11 . . . g.17837
TGTGAGAGGTGGCCTACTCTATCAGGGCGCTGTCAG | ACTGGCTGCTGGAGCCCAGATGGC c.1020
C E R W P T L S G R C Q | T G C W S P D G p.340
. . . . . . g.17897
AGCCGACTGCTGTTCACTGTATTGGGAGAGCCACTGATTTACTCCCTGTCTTTTCCAGAA c.1080
S R L L F T V L G E P L I Y S L S F P E p.360
| 12. . . . . . g.18153
CGTTGTG | GTGAGGGAAAGGGGTGCGTTGGAGGTGCAAAGTCAGCAACGATTGTGGCAGAT c.1140
R C G | E G K G C V G G A K S A T I V A D p.380
. . . . | 13 . . g.18298
CTGTCTGAGACAACAATACAGACACCAGATGGTGAGGAGAG | GCTTGGGGGAGAGGCTCAC c.1200
L S E T T I Q T P D G E E R | L G G E A H p.400
. . . . | 14 . g.18506
TCCATGGTCTGGGACCCCAGTGGGGAACGTCTGGCTGTGCTTATGAAAG | GAAAGCCAAGG c.1260
S M V W D P S G E R L A V L M K G | K P R p.420
. . . . . . g.18566
GTACAGGATGGTAAACCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCCTGTGTTTGAG c.1320
V Q D G K P V I L L F R T R N S P V F E p.440
. | 15 . . . . . g.18748
CTCCTTCCCTG | TGGCATTATCCAGGGGGAGCCAGGAGCCCAGCCCCAGCTCATCACTTTC c.1380
L L P C | G I I Q G E P G A Q P Q L I T F p.460
. . . | 16 . . . g.18939
CATCCTTCCTTCAACAAAGGGGCCCTGCTCAGTGTG | GGCTGGTCCACAGGCCGAATTGCC c.1440
H P S F N K G A L L S V | G W S T G R I A p.480
. . . . . . g.18999
CACATCCCGCTGTACTTTGTCAATGCCCAGTTTCCACGTTTTAGCCCAGTGCTTGGGCGG c.1500
H I P L Y F V N A Q F P R F S P V L G R p.500
. . . . . . g.19059
GCCCAGGAACCCCCTGCTGGGGGTGGAGGCTCTATTCATGACCTGCCCCTCTTTACTGAG c.1560
A Q E P P A G G G G S I H D L P L F T E p.520
. . . . . . g.19119
ACATCCCCAACCTCTGCCCCTTGGGACCCTCTCCCAGGGCCACCACCTGTTCTGCCCCAC c.1620
T S P T S A P W D P L P G P P P V L P H p.540
. . g.19140
TCCCCACATTCCCACCTCTAA c.1641
S P H S H L X p.546
. . . g.19173
gaataaataagttttccttttgttttccactca c.*33
(downstream sequence)
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