(used for variant description)
(last modified September 13, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_022356.3 in the P3H1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008123.1, covering P3H1 transcript NM_022356.3.
(upstream sequence)
. . . . . g.5053
atgcgccgcccggcttggaaggtggggcttcgcccgggggcgggccttcgccg c.-61
. . . . . . g.5113
ggggtaggactccggccttggtggcgggtggctggcggttccgttaggtctgagggagcg c.-1
. . . . . . g.5173
ATGGCGGTACGCGCGTTGAAGCTGCTGACCACACTGCTGGCTGTCGTGGCCGCTGCCTCC c.60
M A V R A L K L L T T L L A V V A A A S p.20
. . . . . . g.5233
CAAGCCGAGGTCGAGTCCGAGGCAGGATGGGGCATGGTGACGCCTGATCTGCTCTTCGCC c.120
Q A E V E S E A G W G M V T P D L L F A p.40
. . . . . . g.5293
GAGGGGACCGCAGCCTACGCGCGCGGGGACTGGCCCGGGGTGGTCCTGAGCATGGAACGG c.180
E G T A A Y A R G D W P G V V L S M E R p.60
. . . . . . g.5353
GCGCTGCGCTCCCGGGCAGCCCTCCGCGCCCTTCGCCTGCGCTGCCGCACCCAGTGTGCC c.240
A L R S R A A L R A L R L R C R T Q C A p.80
. . . . . . g.5413
GCCGACTTCCCGTGGGAGCTGGACCCCGACTGGTCCCCCAGCCCGGCCCAGGCCTCGGGC c.300
A D F P W E L D P D W S P S P A Q A S G p.100
. . . . . . g.5473
GCCGCCGCCCTGCGCGACCTGAGCTTCTTCGGGGGCCTTCTGCGTCGCGCTGCCTGCCTG c.360
A A A L R D L S F F G G L L R R A A C L p.120
. . . . . . g.5533
CGCCGCTGCCTCGGGCCGCCGGCCGCCCACTCGCTCAGCGAAGAGATGGAGCTGGAGTTC c.420
R R C L G P P A A H S L S E E M E L E F p.140
. . . . | 02 . . g.9624
CGCAAGCGGAGCCCCTACAACTACCTGCAGGTCGCCTACTTCAAG | ATCAACAAGTTGGAG c.480
R K R S P Y N Y L Q V A Y F K | I N K L E p.160
. . . . . . g.9684
AAAGCTGTTGCTGCAGCACACACCTTCTTCGTGGGCAATCCTGAGCACATGGAAATGCAG c.540
K A V A A A H T F F V G N P E H M E M Q p.180
. . . . . . g.9744
CAGAACCTAGACTATTACCAAACCATGTCTGGAGTGAAGGAGGCCGACTTCAAGGATCTT c.600
Q N L D Y Y Q T M S G V K E A D F K D L p.200
. | 03 . . . . g.12736
GAGACTCAACCCCATATG | CAAGAATTTCGACTGGGAGTGCGACTCTACTCAGAGGAACAG c.660
E T Q P H M | Q E F R L G V R L Y S E E Q p.220
. . . . . . g.12796
CCACAGGAAGCTGTGCCCCACCTAGAGGCGGCGCTGCAAGAATACTTTGTGGCCTATGAG c.720
P Q E A V P H L E A A L Q E Y F V A Y E p.240
. . . . . . g.12856
GAGTGCCGTGCCCTCTGCGAAGGGCCCTATGACTACGATGGCTACAACTACCTTGAGTAC c.780
E C R A L C E G P Y D Y D G Y N Y L E Y p.260
. . | 04 . . . g.13133
AACGCTGACCTCTTCCAGGCCATCACAG | ATCATTACATCCAGGTCCTCAACTGTAAGCAG c.840
N A D L F Q A I T D | H Y I Q V L N C K Q p.280
. . . . . . g.13193
AACTGTGTCACGGAGCTTGCTTCCCACCCAAGTCGAGAGAAGCCCTTTGAAGACTTCCTC c.900
N C V T E L A S H P S R E K P F E D F L p.300
. . . . | 05 . . g.14182
CCATCGCATTATAATTATCTGCAGTTTGCCTACTATAACA | TTGGGAATTATACACAGGCT c.960
P S H Y N Y L Q F A Y Y N I | G N Y T Q A p.320
. . . . . . g.14242
GTTGAATGTGCCAAGACCTATCTTCTCTTCTTCCCCAATGACGAGGTGATGAACCAAAAT c.1020
V E C A K T Y L L F F P N D E V M N Q N p.340
. . . . . . g.14302
TTGGCCTATTATGCAGCTATGCTTGGAGAAGAACACACCAGATCCATCGGCCCCCGTGAG c.1080
L A Y Y A A M L G E E H T R S I G P R E p.360
| 06 . . . . . . g.16507
| AGTGCCAAGGAGTACCGACAGCGAAGCCTACTGGAAAAAGAACTGCTTTTCTTCGCTTAT c.1140
| S A K E Y R Q R S L L E K E L L F F A Y p.380
. . . | 07 . . . g.16897
GATGTTTTTGGAATTCCCTTTGTGGATCCG | GATTCATGGACTCCAGAAGAAGTGATTCCC c.1200
D V F G I P F V D P | D S W T P E E V I P p.400
. . | 08 . . . . g.17131
AAGAGATTGCAAGAGAAACAGAA | GTCAGAACGGGAAACAGCCGTACGCATCTCCCAGGAG c.1260
K R L Q E K Q K | S E R E T A V R I S Q E p.420
. . . . . . g.17191
ATTGGGAACCTTATGAAGGAAATCGAGACCCTTGTGGAAGAGAAGACCAAGGAGTCACTG c.1320
I G N L M K E I E T L V E E K T K E S L p.440
. . | 09 . . . . g.19455
GATGTGAGCAGACTGACCCGGGAAG | GTGGCCCCCTGCTGTATGAAGGCATCAGTCTCACC c.1380
D V S R L T R E G | G P L L Y E G I S L T p.460
. . . . . . g.19515
ATGAACTCCAAACTCCTGAATGGTTCCCAGCGGGTGGTGATGGACGGCGTAATCTCTGAC c.1440
M N S K L L N G S Q R V V M D G V I S D p.480
. . . | 10 . . . g.19742
CACGAGTGTCAGGAGCTGCAGAGACTGACCAAT | GTGGCAGCAACCTCAGGAGATGGCTAC c.1500
H E C Q E L Q R L T N | V A A T S G D G Y p.500
. . . . . . g.19802
CGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAA c.1560
R G Q T S P H T P N E K F Y G V T V F K p.520
| 11 . . . . . g.21799
GCCCTCAAG | CTGGGGCAAGAAGGCAAAGTTCCTCTGCAGAGTGCCCACCTGTACTACAAC c.1620
A L K | L G Q E G K V P L Q S A H L Y Y N p.540
. . . . . . g.21859
GTGACGGAGAAGGTGCGGCGCATCATGGAGTCCTACTTCCGCCTGGATACGCCCCTCTAC c.1680
V T E K V R R I M E S Y F R L D T P L Y p.560
. . . . | 12 . . g.23787
TTTTCCTACTCTCATCTGGTGTGCCGCACTGCCATCGAAG | AGGTCCAGGCAGAGAGGAAG c.1740
F S Y S H L V C R T A I E E | V Q A E R K p.580
. . . . . . g.23847
GATGATAGTCATCCAGTCCACGTGGACAACTGCATCCTGAATGCCGAGACCCTCGTGTGT c.1800
D D S H P V H V D N C I L N A E T L V C p.600
. . . | 13 . . g.24308
GTCAAAGAGCCCCCAGCCTACACCTTCCGCGACTACAG | CGCCATCCTTTACCTAAATGGG c.1860
V K E P P A Y T F R D Y S | A I L Y L N G p.620
. . . . . | 14 . g.24678
GACTTCGATGGCGGAAACTTTTATTTCACTGAACTGGATGCCAAGACCGTGACG | GCAGAG c.1920
D F D G G N F Y F T E L D A K T V T | A E p.640
. . . . . . g.24738
GTGCAGCCTCAGTGTGGAAGAGCCGTGGGATTCTCTTCAGGCACTGAAAACCCACATGGA c.1980
V Q P Q C G R A V G F S S G T E N P H G p.660
. . . . . . g.24798
GTGAAGGCTGTCACCAGGGGGCAGCGCTGTGCCATCGCCCTGTGGTTCACCCTGGACCCT c.2040
V K A V T R G Q R C A I A L W F T L D P p.680
. | 15 . . . . . g.25277
CGACACAGCGAGCGG | GACAGGGTGCAGGCAGATGACCTGGTGAAGATGCTCTTCAGCCCA c.2100
R H S E R | D R V Q A D D L V K M L F S P p.700
. . . . . . g.25337
GAAGAGATGGACCTCTCCCAGGAGCAGCCCCTGGATGCCCAGCAGGGCCCCCCCGAACCT c.2160
E E M D L S Q E Q P L D A Q Q G P P E P p.720
. . . . . g.25388
GCACAAGAGTCTCTCTCAGGCAGTGAATCGAAGCCCAAGGATGAGCTATGA c.2211
A Q E S L S G S E S K P K D E L X p.736
. . . . . . g.25448
cagcgtccaggtcagacggatgggtgactagacccatggagaggaactcttctgcactct c.*60
. . . . . . g.25508
gagctggccagcccctcggggctgcagagcagtgagcctacatctgccactcagccgagg c.*120
. . . . . . g.25568
ggaccctgctcacagccttctacatggtgctactgctcttggagtggacatgaccagaca c.*180
. . . . . . g.25628
ccgcaccccctggatctggctgagggctcaggacacaggcccagccacccccaggggcct c.*240
. . . . . . g.25688
ccacaggccgctgcatgacagcgatacagtacttaagtgtctgtgtagacaaccaaagaa c.*300
. . . . . . g.25748
taaatgattcatggttttttttacttggtttgttcagacaatggaaatttgcccattctg c.*360
g.25750
tc c.*362
(downstream sequence)
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