(used for variant description)
(last modified July 18, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_004646.3 in the NPHS1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013356.2, covering NPHS1 transcript NM_004646.3.
(upstream sequence)
. . . g.22330
aggggaagaggaaaacgagaaagggaggagagtaac c.-121
. . . . . . g.22390
ggaaagagataaaaaagaaaagcaggtggcagagacacacagagagggacccagagaaag c.-61
. . . . . . g.22450
ccagacagacgcaggtggctggcagcgggcgctgtgggggtcacagtagggggacctgtg c.-1
. . . . . | 02 g.22617
ATGGCCCTGGGGACGACGCTCAGGGCTTCTCTCCTGCTCCTGGGGCTGCTGACTGAAG | GC c.60
M A L G T T L R A S L L L L G L L T E G | p.20
. . . . . . g.22677
CTGGCGCAGTTGGCGATTCCTGCCTCCGTTCCCCGGGGCTTCTGGGCCCTGCCTGAAAAC c.120
L A Q L A I P A S V P R G F W A L P E N p.40
. . . . . . g.22737
CTGACGGTGGTGGAGGGGGCCTCAGTGGAGCTGCGTTGTGGGGTCAGCACCCCTGGCAGT c.180
L T V V E G A S V E L R C G V S T P G S p.60
. . . . . . g.22797
GCGGTGCAATGGGCCAAAGATGGGCTGCTCCTGGGCCCCGACCCCAGGATCCCAGGCTTC c.240
A V Q W A K D G L L L G P D P R I P G F p.80
. . . | 03 . . . g.22929
CCGAGGTACCGCCTGGAAGGGGACCCTGCTAGAG | GTGAATTCCACCTGCACATCGAGGCC c.300
P R Y R L E G D P A R G | E F H L H I E A p.100
. . . . . . g.22989
TGTGACCTCAGCGATGACGCGGAGTATGAGTGCCAGGTCGGCCGCTCTGAGATGGGGCCC c.360
C D L S D D A E Y E C Q V G R S E M G P p.120
. . . | 04. . . g.23221
GAGCTCGTGTCTCCCAGAGTGATCCTCTCCATCCTGG | TTCCTCCCAAGCTGCTCCTGCTG c.420
E L V S P R V I L S I L V | P P K L L L L p.140
. . . . . . g.23281
ACCCCAGAGGCAGGCACCATGGTCACCTGGGTAGCTGGGCAGGAGTACGTGGTCAACTGT c.480
T P E A G T M V T W V A G Q E Y V V N C p.160
. . . . | 05 . . g.23856
GTGTCTGGGGACGCGAAGCCAGCACCTGACATCACCATTCTCCTGA | GTGGACAGACAATA c.540
V S G D A K P A P D I T I L L S | G Q T I p.180
. . . . . . g.23916
TCTGACATCTCTGCAAACGTGAACGAGGGCTCCCAGCAGAAACTCTTCACTGTGGAGGCC c.600
S D I S A N V N E G S Q Q K L F T V E A p.200
| 06 . . . . . g.24686
ACAGCCAG | GGTGACACCCCGGAGCTCAGATAATAGGCAGTTGCTGGTCTGTGAGGCGTCT c.660
T A R | V T P R S S D N R Q L L V C E A S p.220
. . . . . | 07 . g.24932
AGCCCAGCACTGGAGGCCCCCATCAAGGCCTCATTCACCGTGAATGTTCTGT | TCCCTCCA c.720
S P A L E A P I K A S F T V N V L F | P P p.240
. . . . . . g.24992
GGACCCCCTGTCATCGAGTGGCCAGGCCTGGATGAGGGGCACGTGCGGGCAGGACAGAGC c.780
G P P V I E W P G L D E G H V R A G Q S p.260
. . . . . . g.25052
TTGGAGCTGCCGTGCGTGGCCCGAGGGGGTAATCCCTTAGCCACACTGCAGTGGCTGAAG c.840
L E L P C V A R G G N P L A T L Q W L K p.280
| 08 . . . . . . g.25200
| AATGGCCAGCCGGTGTCCACAGCGTGGGGCACAGAGCACACCCAGGCGGTGGCCCGCAGT c.900
| N G Q P V S T A W G T E H T Q A V A R S p.300
. . . . . . g.25260
GTGCTGGTGATGACCGTGAGGCCAGAAGACCATGGAGCGCAGCTCAGCTGCGAGGCCCAC c.960
V L V M T V R P E D H G A Q L S C E A H p.320
. . . . . | 09 . g.25501
AACAGCGTGTCTGCAGGGACCCAGGAGCACGGCATCACACTGCAGGTCACCT | TTCCCCCT c.1020
N S V S A G T Q E H G I T L Q V T F | P P p.340
. . . . . . g.25561
AGTGCCATTATTATCTTGGGATCTGCATCCCAGACTGAGAACAAGAACGTGACACTCTCC c.1080
S A I I I L G S A S Q T E N K N V T L S p.360
. . . . . . g.25621
TGTGTCAGCAAGTCCAGTCGCCCGCGGGTTCTGCTACGATGGTGGCTGGGCTGGCGGCAG c.1140
C V S K S S R P R V L L R W W L G W R Q p.380
. . . | 10 . . . g.25920
CTGCTGCCCATGGAGGAGACAGTCATGGAT | GGACTGCATGGCGGTCACATCTCCATGTCC c.1200
L L P M E E T V M D | G L H G G H I S M S p.400
. . . . . . g.25980
AACCTGACATTCCTGGCGCGGCGGGAGGACAACGGTCTGACCCTCACATGTGAGGCCTTC c.1260
N L T F L A R R E D N G L T L T C E A F p.420
. . . . . | 11 . g.26127
AGTGAAGCCTTCACCAAGGAGACCTTCAAGAAGTCGCTCATCCTGAACGTAAAAT | ATCCC c.1320
S E A F T K E T F K K S L I L N V K Y | P p.440
. . . . . . g.26187
GCCCAGAAACTGTGGATTGAGGGTCCCCCAGAGGGCCAGAAGCTCCGGGCTGGGACCCGG c.1380
A Q K L W I E G P P E G Q K L R A G T R p.460
. . . . . . g.26247
GTGAGGCTGGTGTGTTTGGCTATCGGGGGCAACCCAGAGCCCTCCCTCATGTGGTACAAG c.1440
V R L V C L A I G G N P E P S L M W Y K p.480
| 12 . . . . . . g.28153
| GACTCGCGCACCGTGACCGAGTCGCGGCTGCCGCAGGAGTCGCGGCGCGTGCATCTCGGC c.1500
| D S R T V T E S R L P Q E S R R V H L G p.500
. . . . . . g.28213
AGCGTGGAGAAATCTGGGAGCACCTTCTCCCGAGAGCTGGTGCTGGTCACAGGGCCGTCG c.1560
S V E K S G S T F S R E L V L V T G P S p.520
. . . . . . g.28273
GACAACCAGGCCAAGTTCACGTGCAAGGCTGGACAGCTCAGCGCGTCCACGCAGCTGGCG c.1620
D N Q A K F T C K A G Q L S A S T Q L A p.540
| 13. . . . . . g.28542
GTGCAGT | TTCCCCCAACTAACGTGACGATCCTGGCCAACGCATCCGCACTGCGCCCGGGA c.1680
V Q F | P P T N V T I L A N A S A L R P G p.560
. . . . . . g.28602
GACGCCTTAAACTTGACATGCGTCAGCGTCAGCAGCAATCCGCCGGTCAACTTGTCCTGG c.1740
D A L N L T C V S V S S N P P V N L S W p.580
. | 14. . . . . g.28790
GACAAGGAAGGGGAGAG | GCTGGAGGGCGTGGCCGCCCCACCCCGGAGAGCCCCATTCAAA c.1800
D K E G E R | L E G V A A P P R R A P F K p.600
. . . . . . g.28850
GGCTCCGCCGCCGCCAGGAGCGTCCTTCTGCAAGTGTCATCCCGCGATCATGGCCAGCGC c.1860
G S A A A R S V L L Q V S S R D H G Q R p.620
. . . . . . g.28910
GTGACCTGCCGCGCCCACAGCGCCGAGCTCCGCGAAACCGTGAGCTCCTTCTATCGCCTC c.1920
V T C R A H S A E L R E T V S S F Y R L p.640
. | 15 . . . . . g.29878
AACGTACTGT | ACCGTCCAGAGTTCCTGGGGGAGCAGGTGCTGGTGGTGACCGCGGTGGAG c.1980
N V L Y | R P E F L G E Q V L V V T A V E p.660
. . . . . . g.29938
CAGGGCGAGGCGTTGCTGCCCGTGTCCGTGTCCGCTAACCCCGCCCCCGAGGCCTTCAAC c.2040
Q G E A L L P V S V S A N P A P E A F N p.680
. . . | 16 . . . g.30073
TGGACCTTCCGCGGCTATCGCCTCAGTCCAG | CGGGCGGCCCCCGGCATCGCATCCTGTCC c.2100
W T F R G Y R L S P A | G G P R H R I L S p.700
. . . . . . g.30133
AGCGGGGCTCTGCATCTGTGGAATGTGACCCGCGCGGACGACGGCCTCTATCAGCTGCAC c.2160
S G A L H L W N V T R A D D G L Y Q L H p.720
. . . . . | 17 . g.30702
TGCCAGAACTCTGAGGGCACCGCGGAAGCGCGGCTGCGGCTGGACGTGCACT | ATGCTCCC c.2220
C Q N S E G T A E A R L R L D V H Y | A P p.740
. . . . . . g.30762
ACCATCCGTGCCCTCCAGGACCCCACTGAGGTGAACGTCGGGGGTTCTGTGGACATAGTC c.2280
T I R A L Q D P T E V N V G G S V D I V p.760
. . . . . | 18 . g.31743
TGCACTGTCGATGCCAATCCCATCCTCCCGGGCATGTTCAACTGGGAGAGACTG | GGAGAA c.2340
C T V D A N P I L P G M F N W E R L | G E p.780
. . . . . . g.31803
GATGAGGAGGACCAGAGCCTGGATGACATGGAGAAGATATCCAGGGGACCAACGGGGCGC c.2400
D E E D Q S L D D M E K I S R G P T G R p.800
. . . . . . g.31863
CTGCGGATTCACCATGCCAAACTGGCCCAGGCTGGCGCTTACCAGTGCATTGTGGACAAT c.2460
L R I H H A K L A Q A G A Y Q C I V D N p.820
. . . . | 19 . . g.32021
GGGGTGGCGCCTCCAGCACGACGGCTGCTCCGTCTTGTTGTCAGAT | TTGCCCCCCAGGTG c.2520
G V A P P A R R L L R L V V R F | A P Q V p.840
. . . . . . g.32081
GAGCACCCCACTCCCCTAACTAAGGTGGCTGCAGCTGGAGACAGCACCAGTTCTGCCACC c.2580
E H P T P L T K V A A A G D S T S S A T p.860
. . . . . . g.32141
CTCCACTGCCGTGCCCGAGGTGTCCCCAACATCGTTTTCACTTGGACAAAAAACGGGGTC c.2640
L H C R A R G V P N I V F T W T K N G V p.880
. . | 20 . . . . g.32458
CCTCTGGATCTCCAAGATCCCAG | GTACACGGAGCACACATACCACCAGGGTGGTGTCCAC c.2700
P L D L Q D P R | Y T E H T Y H Q G G V H p.900
. . . . . . g.32518
AGCAGCCTCCTGACCATTGCCAACGTGTCTGCCGCCCAGGATTACGCCCTCTTCACATGT c.2760
S S L L T I A N V S A A Q D Y A L F T C p.920
. . . . . | 21 . g.34685
ACAGCCACCAACGCCCTTGGCTCGGACCAAACCAACATTCAACTTGTCAGCATCA | GCCGC c.2820
T A T N A L G S D Q T N I Q L V S I S | R p.940
. . . . . . g.34745
CCTGACCCTCCATCAGGATTAAAGGTTGTGAGTCTGACCCCACACTCCGTGGGGCTGGAG c.2880
P D P P S G L K V V S L T P H S V G L E p.960
. . . . | 22. . g.34882
TGGAAGCCTGGCTTTGATGGGGGCCTGCCACAGAGGTTCTGCATCAG | GTATGAGGCCCTG c.2940
W K P G F D G G L P Q R F C I R | Y E A L p.980
. . . . . . g.34942
GGGACTCCAGGGTTCCACTATGTGGATGTCGTACCACCCCAGGCCACCACCTTCACGCTG c.3000
G T P G F H Y V D V V P P Q A T T F T L p.1000
. . . . . . g.35002
ACTGGTCTACAGCCTTCTACAAGATACAGGGTCTGGCTGCTGGCCAGTAATGCCTTGGGG c.3060
T G L Q P S T R Y R V W L L A S N A L G p.1020
. . . . | 23 . g.38537
GACAGTGGACTGGCTGACAAAGGGACCCAGCTTCCCATCACTACCCCAG | GTCTCCACCAG c.3120
D S G L A D K G T Q L P I T T P G | L H Q p.1040
. . . . | 24 . . g.42539
CCTTCTGGAGAACCTGAAGACCAGCTGCCCACAGAGCCACCTTCAG | GACCCTCGGGGCTG c.3180
P S G E P E D Q L P T E P P S G | P S G L p.1060
. . . . . . g.42599
CCCCTGCTGCCTGTGCTGTTCGCTCTTGGGGGGCTTCTGCTCCTCTCCAATGCCTCCTGT c.3240
P L L P V L F A L G G L L L L S N A S C p.1080
. . . . | 25 . . g.42801
GTCGGGGGGGTCCTCTGGCAGCGGAGACTCAGGCGTCTTGCTGAGG | GCATCTCAGAGAAG c.3300
V G G V L W Q R R L R R L A E G | I S E K p.1100
. | 26 . . . . . g.42965
ACAGAGGCAGG | GTCGGAAGAGGACCGAGTCAGGAACGAATATGAGGAGAGCCAGTGGACA c.3360
T E A G | S E E D R V R N E Y E E S Q W T p.1120
. . | 27. . . . g.43174
GGAGAGCGGGACACTCAGAGCTCCACG | GTCAGCACAACAGAGGCAGAGCCGTATTACCGC c.3420
G E R D T Q S S T | V S T T E A E P Y Y R p.1140
. . . . . . g.43234
TCCCTGAGGGACTTCAGCCCCCAGCTGCCCCCGACGCAGGAGGAGGTGTCTTATTCCCGA c.3480
S L R D F S P Q L P P T Q E E V S Y S R p.1160
| 28 . . . . . . g.43390
G | GTTTCACAGGTGAAGATGAGGATATGGCCTTCCCTGGGCACTTGTATGATGAGGTAGAA c.3540
G | F T G E D E D M A F P G H L Y D E V E p.1180
. . . . . | 29 . g.47648
AGAACGTACCCCCCGTCTGGAGCCTGGGGACCCCTCTACGATGAAGTGCAGATG | GGACCC c.3600
R T Y P P S G A W G P L Y D E V Q M | G P p.1200
. . . . . . g.47708
TGGGACCTCCACTGGCCTGAAGACACATATCAGGATCCAAGAGGAATCTATGACCAGGTG c.3660
W D L H W P E D T Y Q D P R G I Y D Q V p.1220
. . . . . . g.47768
GCCGGAGACTTGGACACTCTGGAACCCGATTCTCTGCCCTTCGAGCTGAGGGGACATCTG c.3720
A G D L D T L E P D S L P F E L R G H L p.1240
g.47774
GTGTAA c.3726
V X p.1241
. . . . . . g.47834
gagccctctcaaccccattgtcctgcacctgcaggaatttacactccactggtctctctc c.*60
. . . . . . g.47894
attacagcctgggccgagctggttaggtgagctccataaaacccaaagggacttggtgtc c.*120
. . . . . . g.47954
aggagaggacatggagggggctgagtgacagagatggttcagctggtaccagagtagaaa c.*180
. . . . . . g.48014
caaggtgcatcctggggttggctttagaaactaaacttctccaaaaggacagggcagatt c.*240
. . . . . . g.48074
gtaaacgtcgtctcaaaaatgaaatgctgccgggtgcggtgactcacgcctataatccca c.*300
. . . . . . g.48134
gcactttgggaggctgaggcgggtggatcacctgaggtcaggagttcgagaccagcctgg c.*360
. . . . . . g.48194
ccaacatggtaaaactccatttctactaaaaatataaaaaattagccaggagtagtggcg c.*420
. . . . . . g.48254
catgcctgtagtcccagctacttgggaggctgatgcatgagaattgcttgaacccaggag c.*480
. . . . . . g.48314
gcggaggttgcagtgagctgagatcacgccactgcactccagcctgggcgacagagcgag c.*540
. . . . . . g.48374
attctgtctcaaaaaataaaaataaaataaaaataaaaaataaaatgctattctgagggt c.*600
. . . . . . g.48434
ccctaagtgcttcatgaagtaaagttttcagaagtggggaaagacatatgaaaaactctg c.*660
. . . . . . g.48494
ttcattttgcattccatgacgtctgaaatagctaataataagtggaatttatgaatccat c.*720
. . . . . . g.48554
gttgcatcctacctattattttattatttccgacagttatctaacacaggaggcataaac c.*780
. . . . . . g.48614
tatgacacatgtaaacataagtatgctccataagcattaaaataaacagacaatcaaaag c.*840
. . . . . . g.48674
aagctagaggaaaagaatatgtactgtgtgtgtgctttcgtttatagaaattctaaaata c.*900
. . . . . . g.48734
ggcaaaactaatctacggtggcagagagcacagcagaggtttcctggggccatgagagga c.*960
. . . . . . g.48794
gggttgactgcaaaaaggcatgggagaactttctgaggtgttggaaatattctatataac c.*1020
. . . . . . g.48854
gattgtggtggtggttgcacgggtgcacagatttgtcaaaactcattgaactttacactt c.*1080
. . . . . . g.48914
aagatgggtgcatttttattgtacataaatgatatctcaataaaagtgattttaaaaaca c.*1140
g.48916
gg c.*1142
(downstream sequence)
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