(used for variant description)
(last modified January 23, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_001128178.1 in the NPHP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering NPHP1 transcript NM_001128178.1.
(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 . . . . | 09 . g.46936
AAGCAAAG | AACTGATCCCCACTGGAGTGCTGTTCAGAAAGCGATTTCAGAG | CAGATAAAC c.780
K Q R | T D P H W S A V Q K A I S E | Q I N p.260
. . . . . . g.46996
ACTGTTGATGTGTTAACTACGATGGGAGCTATTCCTGCAGGGTTCAGGCCTTCCACGCTC c.840
T V D V L T T M G A I P A G F R P S T L p.280
. | 10 . . . . g.48406
TCACAGCTTCTGGAGGAAG | GGAATCAATTTCGAGCAAATTACTTCTTACAACCAGAGCTC c.900
S Q L L E E G | N Q F R A N Y F L Q P E L p.300
. . . . . | 11 . g.49813
ATGCCTTCACAACTGGCCTTCAGAGATCTGATGTGGGATGCTACAGAAGGCACT | ATTAGG c.960
M P S Q L A F R D L M W D A T E G T | I R p.320
. . . . . . g.49873
TCGAGACCAAGTCGTATTTCATTGATTCTGACATTATGGAGCTGTAAAATGATTCCTCTT c.1020
S R P S R I S L I L T L W S C K M I P L p.340
. . . . . . g.49933
CCAGGAATGAGCATACAGGTTCTCAGCAGACATGTACGCCTCTGTCTATTTGATGGTAAT c.1080
P G M S I Q V L S R H V R L C L F D G N p.360
| 12 . . . . . . g.59863
AAG | GTTCTGAGCAACATTCATACAGTCAGAGCCACATGGCAACCTAAAAAGCCCAAAACA c.1140
K | V L S N I H T V R A T W Q P K K P K T p.380
. | 13 . . . . g.62078
TGGACCTTTTCTCCCCAG | GTTACTCGCATCTTACCATGTTTGCTTGATGGTGATTGCTTT c.1200
W T F S P Q | V T R I L P C L L D G D C F p.400
. . . . . . g.62138
ATCAGGTCTAATTCTGCATCTCCAGATCTTGGAATATTATTTGAACTTGGAATTTCTTAT c.1260
I R S N S A S P D L G I L F E L G I S Y p.420
| 14 . . . . . g.63278
ATTCGCAAT | TCAACTGGTGAAAGAGGAGAGTTAAGCTGTGGCTGGGTGTTTCTTAAACTT c.1320
I R N | S T G E R G E L S C G W V F L K L p.440
. . . | 15 . . . g.65521
TTTGATGCCAGTGGAGTTCCTATTCCAGCAAA | AACTTATGAGCTTTTCTTGAATGGTGGT c.1380
F D A S G V P I P A K | T Y E L F L N G G p.460
. . . . | 16 . g.66432
ACTCCTTATGAAAAAGGTATTGAAGTGGACCCTTCAATATCCAGAAGAG | CACACGGCAGT c.1440
T P Y E K G I E V D P S I S R R A | H G S p.480
. . . . . . g.66492
GTTTTCTACCAGATTATGACAATGAGAAGGCAGCCTCAACTTCTAGTGAAACTGAGATCC c.1500
V F Y Q I M T M R R Q P Q L L V K L R S p.500
. . | 17 . . . g.78302
TTGAACAGAAGATCAAGAAATGTACTAAG | TCTACTGCCAGAAACATTAATTGGAAATATG c.1560
L N R R S R N V L S | L L P E T L I G N M p.520
. . . . . . g.78362
TGTTCTATTCACTTGTTGATATTTTATCGACAAATTCTTGGAGATGTGCTCCTGAAAGAC c.1620
C S I H L L I F Y R Q I L G D V L L K D p.540
. . | 18 . . . . g.80841
AGGATGAGCTTGCAAAGTACTG | ATTTAATTAGCCATCCCATGCTGGCCACCTTCCCCATG c.1680
R M S L Q S T D | L I S H P M L A T F P M p.560
. . . | 19 . . . g.84405
CTCTTGGAGCAGCCTGATGTGATGGATGCTCTCAGG | AGTTCGTGGGCTGGAAAAGAAAGC c.1740
L L E Q P D V M D A L R | S S W A G K E S p.580
. . | 20 . . . . g.86038
ACATTAAAAAGATCAGAGAAG | AGAGACAAAGAGTTCCTGAAGTCCACGTTTCTCCTGGTT c.1800
T L K R S E K | R D K E F L K S T F L L V p.600
. . . . . . g.86098
TACCATGACTGCGTGCTCCCACTTCTCCACTCCACACGCCTACCCCCATTCAGGTGGGCA c.1860
Y H D C V L P L L H S T R L P P F R W A p.620
. . . . . . g.86158
GAAGAAGAGACTGAGACTGCACGGTGGAAAGTTATCACTGACTTCCTTAAGCAAAACCAA c.1920
E E E T E T A R W K V I T D F L K Q N Q p.640
. . . . . . g.86218
GAAAACCAGGGCGCCCTCCAAGCTCTGCTGTCACCAGACGGAGTTCATGAACCTTTTGAC c.1980
E N Q G A L Q A L L S P D G V H E P F D p.660
. . . . . g.86272
CTTTCAGAGCAGACCTATGACTTCTTGGGTGAAATGAGAAAGAATGCAGTGTGA c.2034
L S E Q T Y D F L G E M R K N A V X p.677
. . . . . . 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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