(used for variant description)
(last modified May 29, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000272.3 in the NPHP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008287.1, covering NPHP1 transcript NM_000272.3.
(upstream sequence)
. . . g.5034
ctgggaggcgggcgcacatcgatggcgtcacctt c.-61
. . . . . . g.5094
ctggcgccgccggttggtttccctggcaactggagcaatcagagcaccgcagccagggag c.-1
. . . . . . g.5154
ATGCTGGCGAGACGACAGCGAGATCCTCTCCAGGCCCTGCGGCGCCGCAATCAGGAGCTG c.60
M L A R R Q R D P L Q A L R R R N Q E L p.20
| 02 . . . . . g.8619
AAGCAACAG | GTTGATAGTTTGCTTTCTGAGAGCCAACTGAAAGAAGCTCTAGAACCCAAT c.120
K Q Q | V D S L L S E S Q L K E A L E P N p.40
. . | 03 . . . . g.30415
AAAAGACAACATATTTATCAAAG | ATGTATCCAGTTAAAGCAGGCAATAGATGAAAATAAA c.180
K R Q H I Y Q R | C I Q L K Q A I D E N K p.60
. . | 04 . . . . g.31551
AATGCTCTTCAAAAATTAAGCAAA | GCTGATGAATCTGCACCTGTTGCAAACTATAATCAG c.240
N A L Q K L S K | A D E S A P V A N Y N Q p.80
. . . . . . g.31611
AGAAAAGAAGAGGAGCATACTCTTTTGGACAAGCTTACCCAACAACTGCAGGGCCTTGCT c.300
R K E E E H T L L D K L T Q Q L Q G L A p.100
. . | 05 . . . g.40095
GTGACAATAAGCAGAGAAAATATAACTGA | AGTTGGGGCACCTACTGAAGAAGAGGAAGAA c.360
V T I S R E N I T E | V G A P T E E E E E p.120
. . . . . . g.40155
AGTGAAAGTGAAGATAGTGAAGACAGTGGTGGGGAGGAAGAAGATGCAGAGGAGGAAGAG c.420
S E S E D S E D S G G E E E D A E E E E p.140
. . . . . . g.40215
GAAGAGAAAGAGGAAAATGAATCTCACAAATGGTCAACCGGTGAAGAATACATCGCTGTT c.480
E E K E E N E S H K W S T G E E Y I A V p.160
. . . . | 06 . . g.41527
GGAGATTTTACTGCTCAGCAAGTTGGAGATCTTACATTTAAG | AAAGGGGAAATTCTCCTT c.540
G D F T A Q Q V G D L T F K | K G E I L L p.180
. . . . . . g.41587
GTAATTGAAAAAAAACCTGATGGTTGGTGGATAGCTAAGGATGCCAAAGGAAATGAAGGT c.600
V I E K K P D G W W I A K D A K G N E G p.200
. . | 07 . . . . g.44943
CTTGTTCCCAGAACCTACCTAGAG | CCTTATAGTGAAGAAGAAGAAGGCCAAGAGTCAAGT c.660
L V P R T Y L E | P Y S E E E E G Q E S S p.220
. . . . . . g.45003
GAAGAGGGCAGTGAAGAAGATGTAGAGGCGGTGGATGAAACAGCAGATGGAGCAGAAGTT c.720
E E G S E E D V E A V D E T A D G A E V p.240
| 08 . . . . . g.45384
AAGCAAAG | AACTGATCCCCACTGGAGTGCTGTTCAGAAAGCGATTTCAGAGGCGGGCATC c.780
K Q R | T D P H W S A V Q K A I S E A G I p.260
. . . . . . g.45444
TTCTGTCTTGTTAATCATGTCTCGTTTTGCTACCTAATAGTTCTGATGCGAAATAGGATG c.840
F C L V N H V S F C Y L I V L M R N R M p.280
. . . . . . g.45504
GAGACTGTGGAAGACACCAATGGATCTGAAACAGGGTTCAGGGCATGGAATGTACAGAGC c.900
E T V E D T N G S E T G F R A W N V Q S p.300
. . . | 09 . . g.46948
AGAGGACGTATATTTCTGGTTTCTAAGCCTGTGCTCCAA | CAGATAAACACTGTTGATGTG c.960
R G R I F L V S K P V L Q | Q I N T V D V p.320
. . . . . . g.47008
TTAACTACGATGGGAGCTATTCCTGCAGGGTTCAGGCCTTCCACGCTCTCACAGCTTCTG c.1020
L T T M G A I P A G F R P S T L S Q L L p.340
| 10. . . . . . g.48418
GAGGAAG | GGAATCAATTTCGAGCAAATTACTTCTTACAACCAGAGCTCATGCCTTCACAA c.1080
E E G | N Q F R A N Y F L Q P E L M P S Q p.360
. . . . | 11 . . g.49825
CTGGCCTTCAGAGATCTGATGTGGGATGCTACAGAAGGCACT | ATTAGGTCGAGACCAAGT c.1140
L A F R D L M W D A T E G T | I R S R P S p.380
. . . . . . g.49885
CGTATTTCATTGATTCTGACATTATGGAGCTGTAAAATGATTCCTCTTCCAGGAATGAGC c.1200
R I S L I L T L W S C K M I P L P G M S p.400
. . . . . | 12 . g.59815
ATACAGGTTCTCAGCAGACATGTACGCCTCTGTCTATTTGATGGTAATAAG | GTTCTGAGC c.1260
I Q V L S R H V R L C L F D G N K | V L S p.420
. . . . . . g.59875
AACATTCATACAGTCAGAGCCACATGGCAACCTAAAAAGCCCAAAACATGGACCTTTTCT c.1320
N I H T V R A T W Q P K K P K T W T F S p.440
| 13 . . . . . . g.62090
CCCCAG | GTTACTCGCATCTTACCATGTTTGCTTGATGGTGATTGCTTTATCAGGTCTAAT c.1380
P Q | V T R I L P C L L D G D C F I R S N p.460
. . . . . | 14. g.63230
TCTGCATCTCCAGATCTTGGAATATTATTTGAACTTGGAATTTCTTATATTCGCAAT | TCA c.1440
S A S P D L G I L F E L G I S Y I R N | S p.480
. . . . . . g.63290
ACTGGTGAAAGAGGAGAGTTAAGCTGTGGCTGGGTGTTTCTTAAACTTTTTGATGCCAGT c.1500
T G E R G E L S C G W V F L K L F D A S p.500
. . | 15 . . . . g.65533
GGAGTTCCTATTCCAGCAAA | AACTTATGAGCTTTTCTTGAATGGTGGTACTCCTTATGAA c.1560
G V P I P A K | T Y E L F L N G G T P Y E p.520
. . . | 16. . . g.66444
AAAGGTATTGAAGTGGACCCTTCAATATCCAGAAGAG | CACACGGCAGTGTTTTCTACCAG c.1620
K G I E V D P S I S R R A | H G S V F Y Q p.540
. . . . . . g.66504
ATTATGACAATGAGAAGGCAGCCTCAACTTCTAGTGAAACTGAGATCCTTGAACAGAAGA c.1680
I M T M R R Q P Q L L V K L R S L N R R p.560
. | 17. . . . . g.78314
TCAAGAAATGTACTAAG | TCTACTGCCAGAAACATTAATTGGAAATATGTGTTCTATTCAC c.1740
S R N V L S | L L P E T L I G N M C S I H p.580
. . . . . . g.78374
TTGTTGATATTTTATCGACAAATTCTTGGAGATGTGCTCCTGAAAGACAGGATGAGCTTG c.1800
L L I F Y R Q I L G D V L L K D R M S L p.600
. | 18 . . . . . g.80853
CAAAGTACTG | ATTTAATTAGCCATCCCATGCTGGCCACCTTCCCCATGCTCTTGGAGCAG c.1860
Q S T D | L I S H P M L A T F P M L L E Q p.620
. . | 19 . . . . g.84417
CCTGATGTGATGGATGCTCTCAGG | AGTTCGTGGGCTGGAAAAGAAAGCACATTAAAAAGA c.1920
P D V M D A L R | S S W A G K E S T L K R p.640
| 20 . . . . . g.86050
TCAGAGAAG | AGAGACAAAGAGTTCCTGAAGTCCACGTTTCTCCTGGTTTACCATGACTGC c.1980
S E K | R D K E F L K S T F L L V Y H D C p.660
. . . . . . g.86110
GTGCTCCCACTTCTCCACTCCACACGCCTACCCCCATTCAGGTGGGCAGAAGAAGAGACT c.2040
V L P L L H S T R L P P F R W A E E E T p.680
. . . . . . g.86170
GAGACTGCACGGTGGAAAGTTATCACTGACTTCCTTAAGCAAAACCAAGAAAACCAGGGC c.2100
E T A R W K V I T D F L K Q N Q E N Q G p.700
. . . . . . g.86230
GCCCTCCAAGCTCTGCTGTCACCAGACGGAGTTCATGAACCTTTTGACCTTTCAGAGCAG c.2160
A L Q A L L S P D G V H E P F D L S E Q p.720
. . . . g.86272
ACCTATGACTTCTTGGGTGAAATGAGAAAGAATGCAGTGTGA c.2202
T Y D F L G E M R K N A V X p.733
. . . . . . g.86332
cagtggcagcctctagccctcagcttcccacggaatcagatggatcctccacgattacgt c.*60
. . . . . . g.86392
gaataaaatgatggaaccaaaaatcactgtcactttacaacttaggttttactcttttct c.*120
. . . . . . g.86452
ttctacagaccatatttttaaagaaatgtttatacaataatttaaatattttttaaaacc c.*180
. . . . . . g.86512
ataaaataaatttttataaggaatactgttatatctaaatttaaacagtatttatttttt c.*240
. . . . . . g.86572
caaaaacagctacttaagttaatggtatagatttctataaaagcaagattttgtcaaaaa c.*300
. . . . . . g.86632
ctaaatttatgattattcaagaaagtgaaaaaaacaacctacagaatgggaaaacatatt c.*360
. . . . . . g.86692
tgcaaatcatctaactgataaaggtctagtatccaaaatatttaaatttatgagtgttaa c.*420
. . . g.86727
taaaatttatcttgttcaatgaagaggaagttaaa c.*455
(downstream sequence)
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