(used for variant description)
(last modified June 5, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_003801.3 in the GPAA1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.10, covering GPAA1 transcript NM_003801.3.
(upstream sequence)
. . . . . g.5050
cggaagtgcgggcgagcgcgggtccccgggtctgacaggagcagcctgtg c.-61
. . . . . . g.5110
ggcaccgcggcggtagttggaggcgggagagggtccgtagccgcgccgccctgccccgcc c.-1
. . . . . . g.5170
ATGGGCCTCCTGTCGGACCCGGTTCGCCGGCGCGCGCTCGCCCGCCTAGTGCTGCGCCTC c.60
M G L L S D P V R R R A L A R L V L R L p.20
. | 02 . . . . . g.5549
AACGCGCCGTTGTG | CGTGCTGAGCTACGTGGCGGGCATCGCCTGGTTCTTGGCGCTGGTT c.120
N A P L C | V L S Y V A G I A W F L A L V p.40
. . . . . . g.5609
TTCCCGCCGCTGACCCAGCGCACTTACATGTCGGAGAACGCCATGGGCTCCACCATGGTG c.180
F P P L T Q R T Y M S E N A M G S T M V p.60
. . . . . . g.5669
GAGGAGCAGTTTGCGGGCGGAGACCGTGCCCGGGCTTTTGCCCGGGACTTCGCCGCCCAC c.240
E E Q F A G G D R A R A F A R D F A A H p.80
. | 03 . . . . . g.5814
CGCAAGAAGTCGGG | GGCTCTGCCAGTGGCCTGGCTTGAACGGACGATGCGGTCAGTAGGG c.300
R K K S G | A L P V A W L E R T M R S V G p.100
. . . . . . g.5874
CTGGAGGTCTACACGCAGAGTTTCTCCCGGAAACTGCCCTTCCCAGATGAGACCCACGAG c.360
L E V Y T Q S F S R K L P F P D E T H E p.120
| 04 . . . . . . g.6147
CGCTAT | ATGGTGTCGGGCACCAACGTGTACGGCATCCTGCGGGCCCCGCGTGCTGCCAGC c.420
R Y | M V S G T N V Y G I L R A P R A A S p.140
. . . . . . g.6207
ACCGAGTCGCTTGTGCTCACCGTGCCCTGTGGCTCTGACTCTACCAACAGCCAGGCTGTG c.480
T E S L V L T V P C G S D S T N S Q A V p.160
. . . | 05 . . . g.6344
GGGCTGCTGCTGGCACTGGCTGCCCACTTCCGGG | GGCAGATTTATTGGGCCAAAGATATC c.540
G L L L A L A A H F R G | Q I Y W A K D I p.180
. . . . . . g.6404
GTCTTCCTGGTAACAGAACATGACCTTCTGGGCACTGAGGCTTGGCTTGAAGCCTACCAC c.600
V F L V T E H D L L G T E A W L E A Y H p.200
. | 06 . . . . . g.6557
GATGTCAATGTCACTG | GCATGCAGTCGTCTCCCCTGCAGGGCCGAGCTGGGGCCATTCAG c.660
D V N V T G | M Q S S P L Q G R A G A I Q p.220
. . . . . . g.6617
GCAGCCGTGGCCCTGGAGCTGAGCAGTGATGTGGTCACCAGCCTCGATGTGGCCGTGGAG c.720
A A V A L E L S S D V V T S L D V A V E p.240
. . . . . . g.6677
GGGCTTAACGGGCAGCTGCCCAACCTTGACCTGCTCAATCTCTTCCAGACCTTCTGCCAG c.780
G L N G Q L P N L D L L N L F Q T F C Q p.260
. . . | 07 . . . g.6819
AAAGGGGGCCTGTTGTGCACGCTTCAGGGCAAG | CTGCAGCCCGAGGACTGGACATCATTG c.840
K G G L L C T L Q G K | L Q P E D W T S L p.280
. . . . . . g.6879
GATGGACCGCTGCAGGGCCTGCAGACACTGCTGCTCATGGTTCTGCGGCAGGCCTCCGGC c.900
D G P L Q G L Q T L L L M V L R Q A S G p.300
. . . . . . g.6939
CGCCCCCACGGCTCCCATGGCCTCTTCCTGCGCTACCGTGTGGAGGCCCTAACCCTGCGT c.960
R P H G S H G L F L R Y R V E A L T L R p.320
. . . . . | 08 . g.7111
GGCATCAATAGCTTCCGCCAGTACAAGTATGACCTGGTGGCAGTGGGCAA | GGCTTTGGAG c.1020
G I N S F R Q Y K Y D L V A V G K | A L E p.340
. . . . . . g.7171
GGCATGTTCCGCAAGCTCAACCACCTCCTGGAGCGCCTGCACCAGTCCTTCTTCCTCTAC c.1080
G M F R K L N H L L E R L H Q S F F L Y p.360
. . . . . . g.7231
TTGCTCCCCGGCCTCTCCCGCTTCGTCTCCATCGGCCTCTACATGCCCGCTGTCGGCTTC c.1140
L L P G L S R F V S I G L Y M P A V G F p.380
. . | 09 . . . . g.7458
TTGCTCCTGGTCCTTGGTCTCAAG | GCTCTGGAACTGTGGATGCAGCTGCATGAGGCTGGA c.1200
L L L V L G L K | A L E L W M Q L H E A G p.400
. . . . . . g.7518
ATGGGCCTTGAGGAGCCCGGGGGTGCCCCTGGCCCCAGTGTACCCCTTCCCCCATCACAG c.1260
M G L E E P G G A P G P S V P L P P S Q p.420
| 10 . . . . . . g.7728
| GGTGTGGGGCTGGCCTCGCTCGTGGCACCTCTGCTGATCTCACAGGCCATGGGACTGGCC c.1320
| G V G L A S L V A P L L I S Q A M G L A p.440
. . . . . . g.7788
CTCTATGTCCTGCCAGTGCTGGGCCAACACGTTGCCACCCAGCACTTCCCAGTGGCAGAG c.1380
L Y V L P V L G Q H V A T Q H F P V A E p.460
. . . . . . g.7848
GCTGAGGCTGTGGTGCTGACACTGCTGGCGATTTATGCAGCTGGCCTGGCCCTGCCCCAC c.1440
A E A V V L T L L A I Y A A G L A L P H p.480
. | 11 . . . . . g.8001
AATACCCACCG | GGTGGTAAGCACACAGGCCCCAGACAGGGGCTGGATGGCACTGAAGCTG c.1500
N T H R | V V S T Q A P D R G W M A L K L p.500
. . . . . . g.8061
GTAGCCCTGATCTACCTAGCACTGCAGCTGGGCTGCATCGCCCTCACCAACTTCTCACTG c.1560
V A L I Y L A L Q L G C I A L T N F S L p.520
. . . . . . g.8121
GGCTTCCTGCTGGCCACCACCATGGTGCCCACTGCTGCGCTTGCCAAGCCTCATGGGCCC c.1620
G F L L A T T M V P T A A L A K P H G P p.540
| 12 . . . . . . g.8319
CG | GACCCTCTATGCTGCCCTGCTGGTGCTGACCAGCCCGGCAGCCACGCTCCTTGGCAGC c.1680
R | T L Y A A L L V L T S P A A T L L G S p.560
. . . . . . g.8379
CTGTTCCTGTGGCGGGAGCTGCAGGAGGCGCCACTGTCACTGGCCGAGGGCTGGCAGCTC c.1740
L F L W R E L Q E A P L S L A E G W Q L p.580
. . . . . . g.8439
TTCCTGGCAGCGCTAGCCCAGGGTGTGCTGGAGCACCACACCTACGGCGCCCTGCTCTTC c.1800
F L A A L A Q G V L E H H T Y G A L L F p.600
. . . . . . g.8499
CCACTGCTGTCCCTGGGCCTCTACCCCTGCTGGCTGCTTTTCTGGAATGTGCTCTTCTGG c.1860
P L L S L G L Y P C W L L F W N V L F W p.620
g.8505
AAGTGA c.1866
K X p.621
. . . . . . g.8565
gatctgcctgtccgggctgggacagagactccccaaggaccccattctgcctccttctgg c.*60
. . . g.8596
ggaaataaatgagtgtctgtttcagcagcta c.*91
(downstream sequence)
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