(used for variant description)
(last modified July 12, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_000310.3 in the PPT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering PPT1 transcript NM_000310.3.
(upstream sequence)
. . . . . g.5052
ttattttgattcaccgcagagggcggtctacgagagcgcagagccccactcg c.-181
. . . . . . g.5112
gccagcggggtctggcgggggacctgtcgcgctgaaagctccagggtagggccgacgccc c.-121
. . . . . . g.5172
atcaggctgggcatccgttcgggatgcgcaggttgcgatctgcaaccggcggcgccacgc c.-61
. . . . . . g.5232
ccaggcgggcggagcgcggttcccggagtctcgcgcccgcggtcatgtgacacagcgaag c.-1
. . . . . . g.5292
ATGGCGTCGCCCGGCTGCCTGTGGCTCTTGGCTGTGGCTCTCCTGCCATGGACCTGCGCT c.60
M A S P G C L W L L A V A L L P W T C A p.20
. . . . . . g.5352
TCTCGGGCGCTGCAGCATCTGGACCCGCCGGCGCCGCTGCCGTTGGTGATCTGGCATGGG c.120
S R A L Q H L D P P A P L P L V I W H G p.40
| 02 . . . . . . g.10019
ATGG | GAGACAGCTGTTGCAATCCCTTAAGCATGGGTGCTATTAAAAAAATGGTGGAGAAG c.180
M G | D S C C N P L S M G A I K K M V E K p.60
. . . . . | 03 . g.10304
AAAATACCTGGAATTTACGTCTTATCTTTAGAGATTGGGAAGACCCTGATGGAG | GACGTG c.240
K I P G I Y V L S L E I G K T L M E | D V p.80
. . . . . . g.10364
GAGAACAGCTTCTTCTTGAATGTCAATTCCCAAGTAACAACAGTGTGTCAGGCACTTGCT c.300
E N S F F L N V N S Q V T T V C Q A L A p.100
. . . . . . g.10424
AAGGATCCTAAATTGCAGCAAGGCTACAATGCTATGGGATTCTCCCAGGGAGGCCAATTT c.360
K D P K L Q Q G Y N A M G F S Q G G Q F p.120
| 04 . . . . . . g.11129
CT | GAGGGCAGTGGCTCAGAGATGCCCTTCACCTCCCATGATCAATCTGATCTCGGTTGGG c.420
L | R A V A Q R C P S P P M I N L I S V G p.140
. | 05 . . . . . g.13005
GGACAACATCAAG | GTGTTTTTGGACTCCCTCGATGCCCAGGAGAGAGCTCTCACATCTGT c.480
G Q H Q G | V F G L P R C P G E S S H I C p.160
. . . . . | 06 . g.21987
GACTTCATCCGAAAAACACTGAATGCTGGGGCGTACTCCAAAGTTGTTCAGGAACG | CCTC c.540
D F I R K T L N A G A Y S K V V Q E R | L p.180
. . . . . . g.22047
GTGCAAGCCGAATACTGGCATGACCCCATAAAGGAGGATGTGTATCGCAACCACAGCATC c.600
V Q A E Y W H D P I K E D V Y R N H S I p.200
. . | 07. . . . g.23845
TTCTTGGCAGATATAAATCAGGAGCGG | GGTATCAATGAGTCCTACAAGAAAAACCTGATG c.660
F L A D I N Q E R | G I N E S Y K K N L M p.220
. . . . . . g.23905
GCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGAT c.720
A L K K F V M V K F L N D S I V D P V D p.240
| 08 . . . . . . g.25611
TCGGAG | TGGTTTGGATTTTACAGAAGTGGCCAAGCCAAGGAAACCATTCCCTTACAGGAG c.780
S E | W F G F Y R S G Q A K E T I P L Q E p.260
. | 09 . . . . g.28329
ACCTCCCTGTACACACAG | GACCGCCTGGGGCTAAAGGAAATGGACAATGCAGGACAGCTA c.840
T S L Y T Q | D R L G L K E M D N A G Q L p.280
. . . . . . g.28389
GTGTTTCTGGCTACAGAAGGGGACCATCTTCAGTTGTCTGAAGAATGGTTTTATGCCCAC c.900
V F L A T E G D H L Q L S E E W F Y A H p.300
. . g.28410
ATCATACCATTCCTTGGATGA c.921
I I P F L G X p.306
. . . . . . g.28470
aacccgtatagttcacaatagagctcagggagcccctaactcttccaaaccacatgggag c.*60
. . . . . . g.28530
acagtttccttcatgcccaagcctgagctcagatccagcttgcaactaatccttctatca c.*120
. . . . . . g.28590
tctaacatgccctacttggaaagatctaagatctgaatcttatcctttgccatcttctgt c.*180
. . . . . . g.28650
taccatatggtgttgaatgcaagtttaattaccatggagattgttttacaaacttttgat c.*240
. . . . . . g.28710
gtggtcaagttcagttttagaaaagggagtctgttccagatcagtgccagaactgtgccc c.*300
. . . . . . g.28770
aggcccaaaggagacaactaactaaagtagtgagatagattctaagggcaaacatttttc c.*360
. . . . . . g.28830
caagtcttgccatatttcaagcaaagaggtgcccaggcctgaggtactcacataaatgct c.*420
. . . . . . g.28890
ttgttttgctggtgatttaaccagtgcttggaaaaatcttgcttggctatttctgcatca c.*480
. . . . . . g.28950
tttcttaaggctgccttcctctctcagtacgttgccctctgtgctatcatcttatcatca c.*540
. . . . . . g.29010
attattagacaaatcccactggcctacagtcttgcttctgcagcacccactttgtctcct c.*600
. . . . . . g.29070
caggtagtgatgaattagttgctgtcacaaaaggagggaagtagcacccaaattaagttg c.*660
. . . . . . g.29130
cttaagagaggaaatgtacatcttgtataacttagggagcgaagaaaatgtaggcgcgaa c.*720
. . . . . . g.29190
agtgaaaagtgaggcagctagttcttcctattccattctcgaccaacctgccctttctta c.*780
. . . . . . g.29250
atatgactagtggtcttgatgctagagtcaacttactctgttgctggctttagcagagaa c.*840
. . . . . . g.29310
taggaggaaccatatgaaaaagatcaggctttctgacttccatccccaaaacacatttac c.*900
. . . . . . g.29370
cagcatactccaaactgtttctgatgtgttccatgagaaaaggattgtttgctcaaaaag c.*960
. . . . . . g.29430
cttggaaaatactacacactccctttctccttctggagatcaacccacattagagtgtct c.*1020
. . . . . . g.29490
aaggactcctgagaattcctgttacagtaaacaaaactaacgtaatctaccatttcctac c.*1080
. . . . . . g.29550
actatttgagcatggaaatcatagtccccactctgtgaaaacttaacgctttttggaaga c.*1140
. . . . . . g.29610
catttctgtagcatgtcagtttggagaaatgatgagctacgccttgatgaaagaaccgtg c.*1200
. . . . . . g.29670
ttggtgctgctaagtttagccattatggtttttcctttctctctcttaagccttattctt c.*1260
. . . . . . g.29730
caactaaaagatgaggattaagagcaagaagttgggggggatgtgaaaataattttatga c.*1320
. . . g.29761
ggttgtctaaaataaagagtagtttcttatc c.*1351
(downstream sequence)
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