(used for variant description)
(last modified October 7, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_000277.1 in the PAH gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008690.1, covering PAH transcript NM_000277.1.
(upstream sequence)
. . . . . g.5053
cagctgggggtaaggggggcggattattcatataattgttataccagacggtc c.-421
. . . . . . g.5113
gcaggcttagtccaattgcagagaactcgcttcccaggcttctgagagtcccggaagtgc c.-361
. . . . . . g.5173
ctaaacctgtctaatcgacggggcttgggtggcccgtcgctccctggcttcttcccttta c.-301
. . . . . . g.5233
cccagggcgggcagcgaagtggtgcctcctgcgtcccccacaccctccctcagcccctcc c.-241
. . . . . . g.5293
cctccggcccgtcctgggcaggtgacctggagcatccggcaggctgccctggcctcctgc c.-181
. . . . . . g.5353
gtcaggacaacgcccacgaggggcgttactgtgcggagatgcaccacgcaagagacaccc c.-121
. . . . . . g.5413
tttgtaactctcttctcctccctagtgcgaggttaaaaccttcagccccacgtgctgttt c.-61
. . . . . . g.5473
gcaaacctgcctgtacctgaggccctaaaaagccagagacctcactcccggggagccagc c.-1
. . . . . . g.5533
ATGTCCACTGCGGTCCTGGAAAACCCAGGCTTGGGCAGGAAACTCTCTGACTTTGGACAG c.60
M S T A V L E N P G L G R K L S D F G Q p.20
| 02 . . . . . . g.9765
| GAAACAAGCTATATTGAAGACAACTGCAATCAAAATGGTGCCATATCACTGATCTTCTCA c.120
| E T S Y I E D N C N Q N G A I S L I F S p.40
. . . . | 03 . g.27697
CTCAAAGAAGAAGTTGGTGCATTGGCCAAAGTATTGCGCTTATTTGAG | GAGAATGATGTA c.180
L K E E V G A L A K V L R L F E | E N D V p.60
. . . . . . g.27757
AACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTC c.240
N L T H I E S R P S R L K K D E Y E F F p.80
. . . . . . g.27817
ACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCAT c.300
T H L D K R S L P A L T N I I K I L R H p.100
. . . . . | 04 . g.45061
GACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAG | TGCCCTGG c.360
D I G A T V H E L S R D K K K D T V | P W p.120
. . . . . . g.45121
TTCCCAAGAACCATTCAAGAGCTGGACAGATTTGCCAATCAGATTCTCAGCTATGGAGCG c.420
F P R T I Q E L D R F A N Q I L S Y G A p.140
. . | 05 . . . . g.55979
GAACTGGATGCTGACCACCCT | GGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAG c.480
E L D A D H P | G F K D P V Y R A R R K Q p.160
. . | 06 . . . g.67302
TTTGCTGACATTGCCTACAACTACCGCCA | TGGGCAGCCCATCCCTCGAGTGGAATACATG c.540
F A D I A Y N Y R H | G Q P I P R V E Y M p.180
. . . . . . g.67362
GAGGAAGAAAAGAAAACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACC c.600
E E E K K T W G T V F K T L K S L Y K T p.200
. . . . . . g.67422
CATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCAT c.660
H A C Y E Y N H I F P L L E K Y C G F H p.220
. . . . | 07 . . g.69667
GAAGATAACATTCCCCAGCTGGAAGACGTTTCTCAGTTCCTGCAGA | CTTGCACTGGTTTC c.720
E D N I P Q L E D V S Q F L Q T | C T G F p.240
. . . . . . g.69727
CGCCTCCGACCTGTGGCTGGCCTGCTTTCCTCTCGGGATTTCTTGGGTGGCCTGGCCTTC c.780
R L R P V A G L L S S R D F L G G L A F p.260
. . . . . . g.69787
CGAGTCTTCCACTGCACACAGTACATCAGACATGGATCCAAGCCCATGTATACCCCCGAA c.840
R V F H C T Q Y I R H G S K P M Y T P E p.280
| 08 . . . . . . g.70905
CC | TGACATCTGCCATGAGCTGTTGGGACATGTGCCCTTGTTTTCAGATCGCAGCTTTGCC c.900
P | D I C H E L L G H V P L F S D R S F A p.300
. | 09 . . . . . g.75700
CAGTTTTCCCAG | GAAATTGGCCTTGCCTCTCTGGGTGCACCTGATGAATACATTGAAAAG c.960
Q F S Q | E I G L A S L G A P D E Y I E K p.320
| 10 . . . . . g.78223
CTCGCCACA | ATTTACTGGTTTACTGTGGAGTTTGGGCTCTGCAAACAAGGAGACTCCATA c.1020
L A T | I Y W F T V E F G L C K Q G D S I p.340
. . . . | 11 . . g.78839
AAGGCATATGGTGCTGGGCTCCTGTCATCCTTTGGTGAATTACAG | TACTGCTTATCAGAG c.1080
K A Y G A G L L S S F G E L Q | Y C L S E p.360
. . . . . . g.78899
AAGCCAAAGCTTCTCCCCCTGGAGCTGGAGAAGACAGCCATCCAAAATTACACTGTCACG c.1140
K P K L L P L E L E K T A I Q N Y T V T p.380
. . . . . | 12 g.82089
GAGTTCCAGCCCCTCTATTACGTGGCAGAGAGTTTTAATGATGCCAAGGAGAAAGTAAG | G c.1200
E F Q P L Y Y V A E S F N D A K E K V R | p.400
. . . . . . g.82149
AACTTTGCTGCCACAATACCTCGGCCCTTCTCAGTTCGCTACGACCCATACACCCAAAGG c.1260
N F A A T I P R P F S V R Y D P Y T Q R p.420
. . . . . | 13 . g.83390
ATTGAGGTCTTGGACAATACCCAGCAGCTTAAGATTTTGGCTGATTCCATTAACA | GTGAA c.1320
I E V L D N T Q Q L K I L A D S I N S | E p.440
. . . g.83429
ATTGGAATCCTTTGCAGTGCCCTCCAGAAAATAAAGTAA c.1359
I G I L C S A L Q K I K X p.452
. . . . . . g.83489
agccatggacagaatgtggtctgtcagctgtgaatctgttgatggagatccaactatttc c.*60
. . . . . . g.83549
tttcatcagaaaaagtccgaaaagcaaaccttaatttgaaataacagccttaaatccttt c.*120
. . . . . . g.83609
acaagatggagaaacaacaaataagtcaaaataatctgaaatgacaggatatgagtacat c.*180
. . . . . . g.83669
actcaagagcataatggtaaatcttttggggtcatctttgatttagagatgataatccca c.*240
. . . . . . g.83729
tactctcaattgagttaaatcagtaatctgtcgcatttcatcaagattaattaaaatttg c.*300
. . . . . . g.83789
ggacctgcttcattcaagcttcatatatgctttgcagagaactcataaaggagcatataa c.*360
. . . . . . g.83849
ggctaaatgtaaaacacaagactgtcattagaattgaattattgggcttaatataaatcg c.*420
. . . . . . g.83909
taacctatgaagtttattttctattttagttaactatgattccaattactactttgttat c.*480
. . . . . . g.83969
tgtacctaagtaaattttctttaagtcagaagcccattaaaatagttacaagcattgaac c.*540
. . . . . . g.84029
ttctttagtattatattaatataaaaacatttttgtatgttttattgtaatcataaatac c.*600
. . . . . . g.84089
tgctgtataaggtaataaaactctgcacctaatccccataacttccagtatcattttcca c.*660
. . . . . . g.84149
attaattatcaagtctgttttgggaaacactttgaggacatttatgatgcagcagatgtt c.*720
. . . . . . g.84209
gactaaaggcttggttggtagatattcaggaaatgttcactgaataaataagtaaataca c.*780
. . . . . . g.84269
ttattgaaaagcaaatctgtataaatgtgaaatttttatttgtattagtaataaaacatt c.*840
g.84278
agtagttta c.*849
(downstream sequence)
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