(used for variant description)
(last modified December 24, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_005865.3 in the PRSS16 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering PRSS16 transcript NM_005865.3.
(upstream sequence)
. g.5015
agagtcccgaacacc c.-1
. . . . . . g.5075
ATGGCCGTCTGGCTTGCCCAGTGGCTGGGCCCTCTGCTCTTGGTTTCCCTCTGGGGACTC c.60
M A V W L A Q W L G P L L L V S L W G L p.20
. | 02 . . . . . g.5209
TTGGCTCCAG | CCTCCCTTCTTAGGCGCCTGGGTGAGCACATTCAGCAGTTTCAGGAGAGC c.120
L A P A | S L L R R L G E H I Q Q F Q E S p.40
. . . . . . g.5269
TCTGCCCAGGGCCTGGGCCTGAGCCTGGGGCCAGGTGCTGCAGCCCTCCCAAAAGTGGGG c.180
S A Q G L G L S L G P G A A A L P K V G p.60
. . . . . | 03. g.6127
TGGCTGGAGCAACTGCTGGACCCCTTCAACGTGTCCGACAGACGATCCTTCCTACAG | CGT c.240
W L E Q L L D P F N V S D R R S F L Q | R p.80
. . . . . . g.6187
TACTGGGTGAATGACCAACATTGGGTTGGCCAGGATGGACCCATATTCCTGCATCTAGGG c.300
Y W V N D Q H W V G Q D G P I F L H L G p.100
. . . | 04. . . g.6400
GGTGAGGGCAGCCTTGGGCCTGGCTCAGTGATGAGAG | GCCATCCCGCAGCCTTGGCCCCA c.360
G E G S L G P G S V M R G | H P A A L A P p.120
. . . . . . g.6460
GCCTGGGGCGCCCTGGTGATAAGCCTGGAACACAGATTTTATGGCCTGAGTATACCTGCT c.420
A W G A L V I S L E H R F Y G L S I P A p.140
. . . . | 05. . g.7973
GGAGGCCTGGAAATGGCCCAGCTCCGCTTCTTGTCCAGCCGCCTTGC | GCTGGCTGATGTG c.480
G G L E M A Q L R F L S S R L A | L A D V p.160
. . . . . . g.8033
GTCTCTGCCCGCCTGGCACTTTCCCGCCTCTTTAACATCTCCTCCTCCAGCCCCTGGATC c.540
V S A R L A L S R L F N I S S S S P W I p.180
. . . . . | 06 . g.8328
TGCTTCGGAGGCTCCTATGCCGGCTCCTTGGCCGCCTGGGCCCGGCTGAAG | TTCCCCCAT c.600
C F G G S Y A G S L A A W A R L K | F P H p.200
. . . . . . g.8388
CTCATTTTCGCGTCGGTCGCCTCCTCCGCCCCGGTGCGGGCCGTGCTGGATTTCTCCGAG c.660
L I F A S V A S S A P V R A V L D F S E p.220
| 07 . . . . | 08. g.9030
TATAATGAC | GTGGTATCCCGAAGCCTAATGAGCACCGCGATCGGCGGGTCCCTGGAG | TGC c.720
Y N D | V V S R S L M S T A I G G S L E | C p.240
. . . . . . g.9090
CGGGCGGCGGTGTCCGTCGCCTTCGCTGAAGTGGAGCGGCGGCTGCGCTCGGGTGGGGCG c.780
R A A V S V A F A E V E R R L R S G G A p.260
. . . . . . g.9150
GCTCAAGCAGCATTGCGGACGGAGCTGAGCGCTTGCGGGCCCCTGGGCCGCGCTGAAAAC c.840
A Q A A L R T E L S A C G P L G R A E N p.280
. . . . . . g.9210
CAGGCGGAGCTGTTGGGGGCGCTGCAGGCACTGGTGGGAGGTGTAGTGCAGTATGATGGG c.900
Q A E L L G A L Q A L V G G V V Q Y D G p.300
. . . . . . g.9270
CAGACGGGAGCGCCGCTAAGCGTGCGACAGCTCTGCGGACTTCTCCTCGGGGGCGGGGGC c.960
Q T G A P L S V R Q L C G L L L G G G G p.320
. . . . | 09 . g.10097
AACCGCAGCCACTCCACGCCCTACTGCGGGCTTCGTCGGGCGGTGCAG | ATTGTCTTGCAC c.1020
N R S H S T P Y C G L R R A V Q | I V L H p.340
. . . . . . g.10157
AGCCTGGGCCAGAAGTGTTTAAGCTTTTCCCGAGCAGAGACAGTGGCACAGCTGAGGAGC c.1080
S L G Q K C L S F S R A E T V A Q L R S p.360
. . . . . . g.10217
ACAGAACCTCAACTGTCTGGTGTGGGTGACCGGCAGTGGTTGTATCAGACATGTACCGAG c.1140
T E P Q L S G V G D R Q W L Y Q T C T E p.380
. | 10 . . . . . g.12020
TTCGGCTTCT | ATGTCACCTGTGAGAATCCCAGATGTCCTTTCTCCCAGCTCCCAGCACTG c.1200
F G F Y | V T C E N P R C P F S Q L P A L p.400
. . . . . . g.12080
CCCTCCCAGCTAGACCTATGTGAGCAGGTGTTTGGGCTCTCAGCCTTGTCAGTAGCCCAG c.1260
P S Q L D L C E Q V F G L S A L S V A Q p.420
. . . . . . g.12140
GCTGTGGCTCAGACGAACTCCTACTACGGTGGCCAGACCCCTGGGGCTAACAAAGTGCTG c.1320
A V A Q T N S Y Y G G Q T P G A N K V L p.440
. | 11 . . . . . g.12313
TTTGTTAATG | GGGACACAGACCCCTGGCATGTGCTAAGTGTAACACAGGCTTTAGGATCC c.1380
F V N G | D T D P W H V L S V T Q A L G S p.460
. . . . . . g.12373
TCAGAATCAACTCTTCTTATCCGCACTGGCTCCCACTGCTTGGACATGGCACCTGAGAGG c.1440
S E S T L L I R T G S H C L D M A P E R p.480
. . . | 12 . . . g.12548
CCCTCAGACTCCCCCAGCCTCCGCCTAGGGCGCCAG | AACATCTTCCAGCAGCTACAGACC c.1500
P S D S P S L R L G R Q | N I F Q Q L Q T p.500
. . . . g.12593
TGGCTCAAGCTGGCAAAGGAGAGCCAGATTAAGGGTGAAGTCTGA c.1545
W L K L A K E S Q I K G E V X p.514
. . . . . . g.12653
atctcataccctttccactccctgcatggtcacctcagtcctggacatacttgttcactg c.*60
. . . . . . g.12713
aacaaaagaaagcagcttgttttgaaagaagaaactcccaggaattggaattcagcacct c.*120
. . . . . . g.12773
gttccgcacgtaattggcatgtgtctgcaaacatccttattcccaacttaaagtgcttta c.*180
. . . . . . g.12833
ttgcagagagttatggaaatataagtggatgattattctcattgtaaatattggtatttt c.*240
. . . . . . g.12893
gaatgttaaatgtcaaacaaatgtgacttatgctggtgccctcgccctgctgatcagatt c.*300
. . . . . . g.12953
ctggttcaaattctgccactccagctcctgggttaggggctttgctgtaagtttcttttt c.*360
. . . . . . g.13013
ctggactttagatcctgaacctgtccttgcttctcagtttctctcactgtacccctttcc c.*420
. . . . . . g.13073
ctcagtctcttcctctctctttcccctgtcactatttgtctttctaatctccttctgttt c.*480
. . . . . . g.13133
ctctgaatatcttcatttctatctctgtgtttctgtctatttctctgtttatctttctgt c.*540
. . . . . . g.13193
ccttcaatctgtgtttttgtttctggctctccgtcagtgtctttttctctcctctctctc c.*600
. . . . . . g.13253
ttgctctgccatggctatttccactgctctatttctgactctcatttttggtctctgtgt c.*660
. . . . . . g.13313
gtctcctagtcactttctttctcactctgtctctgtctctatttctgtctctcctctgct c.*720
. . . . . . g.13373
gtgtcctcaatctctctgtctccctgaggctctatttctgtctctcctctgctgtgtcct c.*780
. . . . . . g.13433
caatctctctgtctccctgaggctctatttctgtctctgatgctcttcttctgtgtctct c.*840
. . . . . . g.13493
atttctcttcctgtcacttaatcttttccttctctatctctcttatttagtcttccttcc c.*900
. . . . . . g.13553
acacccttcactcaccatcttttcccacaatcaaatatcactccctggtacttccagctt c.*960
. . . . . . g.13613
ccaactctagggattcatgattctggtggagattccttcttccagggcctgggaggatag c.*1020
. . . . . . g.13673
ggctaatcccaagggtgcctgcttaggctatgttagctgtgacaggaacctgccatagat c.*1080
. . . . . . g.13733
ttgcactgttctttcctaaagatcaattattttcagcaataaatacttctcagctttttg c.*1140
. . . . . . g.13793
tatgtctttgtatgcacagagatggtagttttagagttttatccagtttcatatttcctt c.*1200
. . . . . . g.13853
gtgggtaagaggcaacctcctcatgctgtcataccaaagtcaatctccactacactttag c.*1260
. . . . g.13898
ttctgcctgttcttgatctttatataaatggaaacttgcagtata c.*1305
(downstream sequence)
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