(used for variant description)
(last modified February 21, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_153240.4 in the NPHP3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering NPHP3 transcript NM_153240.4.
(upstream sequence)
. . . . g.5044
ctgccccgccccgtcccgttccgttcctctgccccaccccgtcc c.-61
. . . . . . g.5104
cgttccgttccgctgcccagtcctgctggtactcactaggtagtagcggcaacggacgcc c.-1
. . . . . . g.5164
ATGGGGACCGCCTCGTCGCTCGTGAGCCCCGCGGGCGGGGAAGTGATCGAGGACACGTAC c.60
M G T A S S L V S P A G G E V I E D T Y p.20
. . . . . . g.5224
GGGGCGGGCGGCGGCGAGGCCTGCGAGATCCCGGTGGAGGTGAAGCCCAAGGCCCGCCTG c.120
G A G G G E A C E I P V E V K P K A R L p.40
. . . . . . g.5284
CTGCGCAACTCGTTCCGCCGAGGCGCGGGGGCGGCAGCAGGGGCCGGGCCCGGGTCGCTG c.180
L R N S F R R G A G A A A G A G P G S L p.60
. . . . . . g.5344
CCCCGCGGGGTGGGCGCGGGCGGGCTGCTGGGGGCCAGCTTCAAGTCCACTGGCTCGTCG c.240
P R G V G A G G L L G A S F K S T G S S p.80
. . . . . . g.5404
GTGCCAGAGCTGGAGTACGCGGCGGCCGAGTACGAGCGGCTCAGGAAGGAGTACGAGATC c.300
V P E L E Y A A A E Y E R L R K E Y E I p.100
. . . . . . g.5464
TTTCGCGTCAGCAAGAACCAGGAGTTGTTGTCCATGGGCCGCCGCGAGGCCAAGCTGGAC c.360
F R V S K N Q E L L S M G R R E A K L D p.120
. . . | 02 . . . g.7656
ACGGAGAACAAGCGGCTGCGGGCCGAACTGCAG | GCACTTCAAAAAACGTATCAGAAGATA c.420
T E N K R L R A E L Q | A L Q K T Y Q K I p.140
. . . . . . g.7716
CTTCGAGAAAAAGAAAGTGCTTTAGAAGCGAAATACCAAGCAATGGAGAGAGCAGCAACA c.480
L R E K E S A L E A K Y Q A M E R A A T p.160
. . . | 03 . . g.8336
TTTGAACATGACAGAGATAAAGTTAAAAGGCAATTCAAG | ATTTTTAGGGAGACCAAAGAA c.540
F E H D R D K V K R Q F K | I F R E T K E p.180
. . . . . . g.8396
AATGAAATTCAGGACTTACTGAGGGCCAAGAGGGAGTTGGAGAGCAAACTTCAGAGGCTA c.600
N E I Q D L L R A K R E L E S K L Q R L p.200
. . . . . . g.8456
CAGGCTCAGGGTATCCAAGTATTTGATCCTGGGGAGTCTGATTCAGATGACAACTGTACA c.660
Q A Q G I Q V F D P G E S D S D D N C T p.220
. | 04 . . . . . g.10600
GATGTCACTG | CTGCTGGAACCCAATGTGAATATTGGACTGGCGGAGCCTTGGGAAGTGAA c.720
D V T A | A G T Q C E Y W T G G A L G S E p.240
. . . . . . g.10660
CCTTCCATAGGAAGCATGATCCAGCTTCAGCAGTCCTTCAGAGGCCCTGAGTTTGCCCAT c.780
P S I G S M I Q L Q Q S F R G P E F A H p.260
. . . . | 05 . . g.12258
AGTTCTATAGATGTGGAAGGACCCTTTGCAAATGTTAATAGAG | ATGACTGGGATATTGCT c.840
S S I D V E G P F A N V N R D | D W D I A p.280
. . . . . . g.12318
GTAGCTAGTTTATTACAAGTTACTCCTCTGTTTTCACATTCTCTGTGGAGTAACACTGTC c.900
V A S L L Q V T P L F S H S L W S N T V p.300
. . . . . | 06. g.14176
AGATGTTACCTCATTTATACAGATGAAACCCAGCCTGAGATGGATCTTTTCCTTAAG | GAC c.960
R C Y L I Y T D E T Q P E M D L F L K | D p.320
. . . . . . g.14236
TATTCACCTAAACTTAAGAGAATGTGCGAGACAATGGGATATTTTTTCCATGCTGTTTAT c.1020
Y S P K L K R M C E T M G Y F F H A V Y p.340
. . . . . . g.14296
TTTCCAATAGATGTTGAAAATCAATACCTCACTGTAAGAAAATGGGAAATTGAGAAAAGT c.1080
F P I D V E N Q Y L T V R K W E I E K S p.360
. . . | 07 . . g.19224
TCTTTAGTTATTTTATTTATTCACTTAACATTACCAAG | CCTTTTATTGGAAGACTGTGAA c.1140
S L V I L F I H L T L P S | L L L E D C E p.380
. . . . . . g.19284
GAAGCTTTTCTGAAAAACCCTGAAGGAAAACCTCGATTAATCTTTCATCGTTTGGAAGAT c.1200
E A F L K N P E G K P R L I F H R L E D p.400
. . . . . . g.19344
GGAAAAGTCAGTTCTGACTCTGTCCAGCAATTGATTGATCAAGTTTCTAATCTAAACAAG c.1260
G K V S S D S V Q Q L I D Q V S N L N K p.420
. | 08 . . . . . g.21690
ACCAGCAAAGCCAAG | ATCATTGATCACTCAGGAGATCCTGCAGAAGGAGTATATAAAACT c.1320
T S K A K | I I D H S G D P A E G V Y K T p.440
. . . | 09 . . . g.23118
TATATTTGTGTAGAAAAGATTATTAAACAG | GACATACTGGGTTTTGAGAACACAGACTTG c.1380
Y I C V E K I I K Q | D I L G F E N T D L p.460
. . . . . . g.23178
GAGACTAAGGATTTGGGCAGTGAGGATTCCATTCCAGAAGAAGATGATTTTGGTGATGTT c.1440
E T K D L G S E D S I P E E D D F G D V p.480
. . . . . . g.23238
CTGTGGGACATACATGATGAACAAGAGCAAATGGAAACTTTTCAGCAGGCTTCTAATTCA c.1500
L W D I H D E Q E Q M E T F Q Q A S N S p.500
. . | 10 . . . . g.25962
GCCCATGAGTTGGGATTTGAGAAA | TATTACCAACGCCTTAATGATCTAGTGGCAGCACCA c.1560
A H E L G F E K | Y Y Q R L N D L V A A P p.520
. . . . . . g.26022
GCCCCGATTCCACCTCTTCTCGTGTCTGGAGGACCAGGTTCTGGGAAGTCTCTTCTTTTA c.1620
A P I P P L L V S G G P G S G K S L L L p.540
| 11 . . . . . g.27063
TCAAAGTG | GATTCAATTACAACAGAAGAATTCCCCCAACACACTGATTCTTTCCCATTTT c.1680
S K W | I Q L Q Q K N S P N T L I L S H F p.560
. . . . . . g.27123
GTGGGAAGGCCCATGTCAACCAGCTCAGAGTCCTCCTTGATTATTAAACGACTAACTCTA c.1740
V G R P M S T S S E S S L I I K R L T L p.580
| 12 . . . . . . g.27455
AAG | TTGATGCAGCACTCTTGGTCAGTCTCTGCTCTGACACTGGATCCTGCTAAGCTTCTG c.1800
K | L M Q H S W S V S A L T L D P A K L L p.600
. . . . . . g.27515
GAAGAATTTCCACGTTGGCTGGAAAAACTCTCTGCTCGTCATCAAGGCAGCATCATCATC c.1860
E E F P R W L E K L S A R H Q G S I I I p.620
. . | 13. . . . g.28042
GTTATTGATTCTATAGATCAAGTTCAG | CAAGTTGAAAAACACATGAAATGGCTGATAGAT c.1920
V I D S I D Q V Q | Q V E K H M K W L I D p.640
. . . . . . g.28102
CCACTGCCAGTGAATGTAAGAGTAATTGTTTCTGTGAATGTAGAAACATGCCCTCCAGCA c.1980
P L P V N V R V I V S V N V E T C P P A p.660
| 14 . . . . . . g.30152
TGGAG | GTTGTGGCCTACACTTCATCTTGATCCCTTAAGTCCAAAAGATGCAAAATCTATT c.2040
W R | L W P T L H L D P L S P K D A K S I p.680
. . . . | 15 . g.30658
ATAATTGCAGAATGCCACTCTGTAGACATTAAATTGAGTAAAGAGCAG | GAGAAGAAGCTA c.2100
I I A E C H S V D I K L S K E Q | E K K L p.700
. . . . . . g.30718
GAACGACACTGTCGTTCTGCTACAACCTGCAATGCCCTTTATGTCACCCTTTTCGGCAAA c.2160
E R H C R S A T T C N A L Y V T L F G K p.720
. | 16 . . . . . g.32543
ATGATCGCGCG | TGCTGGGAGAGCAGGCAATTTAGATAAAATCCTTCATCAGTGTTTCCAG c.2220
M I A R | A G R A G N L D K I L H Q C F Q p.740
. . . . . . g.32603
TGTCAAGATACTCTTTCATTATATAGACTTGTTCTGCACTCTATCCGGGAGTCCATGGCA c.2280
C Q D T L S L Y R L V L H S I R E S M A p.760
. . . | 17 . . . g.34671
AATGATGTGGATAAAGAGCTAATGAAGCAG | ATCCTCTGCCTTGTCAATGTTAGTCACAAT c.2340
N D V D K E L M K Q | I L C L V N V S H N p.780
. . . . . . g.34731
GGTGTGAGTGAATCAGAACTGATGGAACTCTATCCTGAGATGTCCTGGACTTTCTTGACC c.2400
G V S E S E L M E L Y P E M S W T F L T p.800
. . . . . . g.34791
TCCCTTATTCACAGTTTATACAAAATGTGTTTGTTGACTTATGGATGTGGCTTGCTTAGG c.2460
S L I H S L Y K M C L L T Y G C G L L R p.820
. | 18 . . . . . g.36218
TTTCAACATCTGCAG | GCTTGGGAAACAGTGAGATTGGAGTACCTGGAAGGCCCCACTGTT c.2520
F Q H L Q | A W E T V R L E Y L E G P T V p.840
. . . . . | 19 . g.36819
ACTTCTTCATACAGGCAAAAGCTAATCAACTATTTCACCTTGCAGCTAAG | TCAGGACAGA c.2580
T S S Y R Q K L I N Y F T L Q L S | Q D R p.860
. . . . . . g.36879
GTGACTTGGAGAAGTGCAGATGAACTCCCGTGGCTTTTTCAGCAGCAGGGAAGTAAACAG c.2640
V T W R S A D E L P W L F Q Q Q G S K Q p.880
. . . . . | 20 . g.38203
AAGCTGCATGATTGCCTTCTTAATCTCTTTGTGTCTCAAAACCTTTATAAAAG | GGGACAC c.2700
K L H D C L L N L F V S Q N L Y K R | G H p.900
. . . . . . g.38263
TTTGCTGAGTTGCTGAGTTATTGGCAGTTTGTTGGCAAAGACAAAAGTGCAATGGCAACA c.2760
F A E L L S Y W Q F V G K D K S A M A T p.920
. . . . . . g.38323
GAATACTTCGATTCATTGAAGCAGTATGAGAAAAACTGCGAAGGCGAGGACAACATGAGT c.2820
E Y F D S L K Q Y E K N C E G E D N M S p.940
. . . . . . g.38383
TGCTTAGCTGATCTTTATGAAACCTTGGGGCGATTTCTCAAGGATCTAGGCCTTCTCAGT c.2880
C L A D L Y E T L G R F L K D L G L L S p.960
| 21 . . . . . . g.38625
CAG | GCCATAGTACCTTTGCAGAGGTCTTTAGAGATTCGAGAAACAGCTTTAGATCCCGAT c.2940
Q | A I V P L Q R S L E I R E T A L D P D p.980
. . . . . . g.38685
CACCCAAGAGTAGCCCAGTCCCTCCACCAACTAGCAAGTGTATACGTGCAGTGGAAGAAG c.3000
H P R V A Q S L H Q L A S V Y V Q W K K p.1000
. . . . . . g.38745
TTTGGCAATGCAGAACAACTGTATAAACAGGCGTTGGAAATCTCAGAAAATGCTTATGGT c.3060
F G N A E Q L Y K Q A L E I S E N A Y G p.1020
. . . . . . g.38805
GCGGACCATCCATATACTGCTCGTGAACTTGAAGCACTTGCAACTTTGTACCAGAAACAA c.3120
A D H P Y T A R E L E A L A T L Y Q K Q p.1040
| 22 . . . . . . g.40288
AATAA | ATATGAACAAGCTGAACATTTTAGGAAAAAATCCTTTAAAATTCATCAGAAAGCT c.3180
N K | Y E Q A E H F R K K S F K I H Q K A p.1060
. . | 23 . . . . g.41111
ATAAAGAAAAAAGGCAACTTG | TACGGATTTGCCCTTTTACGTAGACGGGCTTTACAGTTA c.3240
I K K K G N L | Y G F A L L R R R A L Q L p.1080
. . . . . . g.41171
GAAGAGCTTACATTAGGTAAGGACACACCTGATAATGCTCGGACCCTCAATGAACTGGGT c.3300
E E L T L G K D T P D N A R T L N E L G p.1100
. . | 24 . . . g.42696
GTTCTCTACTATCTTCAAAATAACCTGGA | AACAGCTGACCAGTTTCTGAAGCGTTCCTTA c.3360
V L Y Y L Q N N L E | T A D Q F L K R S L p.1120
. . . . . . g.42756
GAAATGAGGGAGCGAGTTCTAGGACCAGATCACCCTGACTGTGCTCAGTCTTTGAATAAT c.3420
E M R E R V L G P D H P D C A Q S L N N p.1140
. . . . . . g.42816
CTGGCAGCTCTATGCAATGAAAAGAAACAGTATGATAAAGCAGAAGAACTTTATGAAAGA c.3480
L A A L C N E K K Q Y D K A E E L Y E R p.1160
. . . . . . g.42876
GCTTTAGATATTCGGAGACGTGCATTAGCTCCTGATCACCCTTCTTTGGCATATACGGTG c.3540
A L D I R R R A L A P D H P S L A Y T V p.1180
. . . | 25 . . . g.43965
AAGCATCTTGCCATCTTGTATAAGAAAATG | GGGAAACTTGACAAAGCTGTACCTTTGTAT c.3600
K H L A I L Y K K M | G K L D K A V P L Y p.1200
. . . . . . g.44025
GAATTGGCTGTTGAAATTCGACAGAAATCTTTTGGCCCAAAGCACCCTAGTGTAGCTACT c.3660
E L A V E I R Q K S F G P K H P S V A T p.1220
. . . | 26 . . . g.44665
GCCTTGGTGAACTTAGCTGTTCTTTATAGCCAAATG | AAAAAACACGTTGAAGCTTTGCCA c.3720
A L V N L A V L Y S Q M | K K H V E A L P p.1240
. . . . . . g.44725
TTATATGAAAGAGCATTAAAGATTTATGAAGATAGCCTGGGTCGGATGCATCCTCGAGTT c.3780
L Y E R A L K I Y E D S L G R M H P R V p.1260
. . . | 27 . . . g.45397
GGAGAAACACTGAAAAATTTAGCTGTGCTTAG | CTATGAAGGAGGAGATTTTGAAAAAGCT c.3840
G E T L K N L A V L S | Y E G G D F E K A p.1280
. . . . . . g.45457
GCTGAATTATACAAAAGGGCAATGGAAATAAAAGAAGCAGAAACATCACTCTTGGGTGGA c.3900
A E L Y K R A M E I K E A E T S L L G G p.1300
. . . . . . g.45517
AAAGCTCCTTCACGCCATTCATCAAGTGGAGACACGTTTAGCTTAAAAACAGCTCATTCT c.3960
K A P S R H S S S G D T F S L K T A H S p.1320
. . . g.45550
CCTAATGTTTTCCTTCAGCAAGGACAAAGGTAA c.3993
P N V F L Q Q G Q R X p.1330
. . . . . . g.45610
tagcagcagttagaattctttgcaaatgtaccttaagacaaaataattaaacatttggaa c.*60
. . . . . . g.45670
catttgaatttgaaactttaaaaaaatgttgtacgaaattttactacgtgtgatttaact c.*120
. . . . . . g.45730
gctatttgtatgaagttgtattggattacattaagttggaattgtgattatgtctgtttt c.*180
. . . . . . g.45790
agttgtttaaaagaattttcctattatatggtatccaaggatgtagacacattagaatta c.*240
. . . . . . g.45850
taagaagacatgaggagcaaatcatgaagagcggattggtctttgttcaacaagagctgg c.*300
. . . . . . g.45910
cagagtagttaagacaaggagttcaaaaattccatgaatcttggccaggcatggtggctc c.*360
. . . . . . g.45970
atgcctgtaatcccaccactttgggagggtgatgcaggaggatcacttgaggccaggagt c.*420
. . . . . . g.46030
tggagaccagcctggccaacatggtgaaaccctgtctctactaaaaatacaaaaaaaaat c.*480
. . . . . . g.46090
tagctggacctggtggcgcatgcctgtaatcctagctactcaggaggctgaggcatgaga c.*540
. . . . . . g.46150
atcgcttgaactcagcaagtggaggttgctatgagctgagattgtgccagttcattccac c.*600
. . . . . . g.46210
cctgggcaacagggtgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaagaattccat c.*660
. . . . . . g.46270
gattcttttgagctctcaagagctactttagccttgccattcctcttgcttttcagcagt c.*720
. . . . . . g.46330
agtctggcccaattctctacctcaaaggaaagtttcaaggattaaagggttaatgtttat c.*780
. . . . . . g.46390
gaacgattcaaattgtcttcagtgaaacacattagtcacaagaatccctgattgctgcac c.*840
. . . . . . g.46450
tttaaaaaattctttaccttttccttgagcagattggtccagtccctctgctttctgttc c.*900
. . . . . . g.46510
tgtctacattgtgtattatttattactatatagtatatgtatctgcataatgtctgaagt c.*960
. . . . . . g.46570
cattaatgcagtaacaggtcaagctctttagcattctttgacttttcccaaaatatagat c.*1020
. . . . . . g.46630
atgacattctcctttatcttccttcttagatggcctaaatctgtctcttcatttacctca c.*1080
. . . . . . g.46690
aactcaaattagtatgccattttcatactgaaaattaaatatttttatggattttataaa c.*1140
. . . . . . g.46750
tattgcaacattttagatattgttttggaccatttgtgtatttatatataataaaatcat c.*1200
. . . . . . g.46810
caatttaatacttgtaagatcctaacatgtattgattgtaaaagtgaaatatgtaatagc c.*1260
. . . . g.46851
cacacttcactgttttaaaataaaagtgcaatttcaagttc c.*1301
(downstream sequence)
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