(used for variant description)
(last modified August 13, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_000444.4 in the PHEX gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007563.1, covering PHEX transcript NM_000444.4.
(upstream sequence)
. . g.5023
ccaatattttggtttttataatt c.-181
. . . . . . g.5083
ttcatttgtgaagaattatttgagaaagggtggcgaggggagatttcctgacggcagttt c.-121
. . . . . . g.5143
cttaagctgtccattagtagaagagcaagaaagccttggatgtcaacgcctcgctcttga c.-61
. . . . . . g.5203
gaccagccaccaaaccacgaaaagtgactttcttctcgtgtgctctctacggcccttctg c.-1
. . . . . . g.5263
ATGGAAGCAGAAACAGGGAGCAGCGTGGAGACTGGAAAGAAGGCCAACAGAGGCACTCGA c.60
M E A E T G S S V E T G K K A N R G T R p.20
. . . . . | 02 g.10668
ATTGCCCTGGTCGTGTTTGTCGGTGGCACCCTAGTTCTGGGCACGATCCTCTTTCTAG | TG c.120
I A L V V F V G G T L V L G T I L F L V | p.40
. . . . . . g.10728
AGTCAAGGTCTCTTAAGTCTCCAAGCTAAACAGGAGTACTGCCTGAAGCCAGAATGCATC c.180
S Q G L L S L Q A K Q E Y C L K P E C I p.60
| 03. . . . . . g.19300
GAAGCGG | CTGCTGCCATCTTAAGTAAAGTAAATCTGTCTGTGGATCCTTGTGATAATTTC c.240
E A A | A A I L S K V N L S V D P C D N F p.80
. . . . . . g.19360
TTCCGGTTCGCTTGTGATGGCTGGATAAGCAATAATCCAATTCCCGAAGATATGCCAAGC c.300
F R F A C D G W I S N N P I P E D M P S p.100
. . . . | 04 . g.48596
TATGGGGTTTATCCTTGGCTGAGACATAATGTTGACCTCAAGTTGAAGG | AACTTTTGGAG c.360
Y G V Y P W L R H N V D L K L K E | L L E p.120
. . . . . . g.48656
AAATCAATCAGTAGAAGGCGGGACACCGAAGCCATACAGAAAGCCAAAATCCTTTATTCA c.420
K S I S R R R D T E A I Q K A K I L Y S p.140
. | 05 . . . . . g.49717
TCCTGCATGAATGAGA | AAGCGATTGAAAAAGCAGATGCCAAGCCACTGCTACACATCCTA c.480
S C M N E K | A I E K A D A K P L L H I L p.160
. . . . . . g.49777
CGGCATTCACCTTTCCGCTGGCCCGTGCTTGAATCTAATATTGGCCCTGAAGGGGTTTGG c.540
R H S P F R W P V L E S N I G P E G V W p.180
. . . . . . g.49837
TCAGAGAGAAAGTTCAGCCTTCTGCAGACACTTGCAACGTTTCGTGGTCAATACAGCAAT c.600
S E R K F S L L Q T L A T F R G Q Y S N p.200
. . . . . . g.49897
TCTGTGTTCATCCGTTTGTATGTGTCCCCTGATGACAAAGCATCCAATGAACATATCTTG c.660
S V F I R L Y V S P D D K A S N E H I L p.220
| 06 . . . . . . g.62683
AAG | CTGGACCAAGCAACACTCTCCCTGGCCGTGAGGGAAGACTACCTTGATAACAGTACA c.720
K | L D Q A T L S L A V R E D Y L D N S T p.240
. | 07 . . . . . g.66228
GAAGCCAAGTCT | TATCGGGATGCCCTTTACAAGTTCATGGTGGATACTGCCGTGCTTTTA c.780
E A K S | Y R D A L Y K F M V D T A V L L p.260
. . . . . . g.66288
GGAGCTAACAGTTCCAGAGCAGAGCATGACATGAAGTCAGTGCTCAGATTGGAAATTAAG c.840
G A N S S R A E H D M K S V L R L E I K p.280
| 08 . . . . . g.69203
ATAGCTGAG | ATAATGATTCCACATGAAAACCGAACCAGCGAGGCCATGTACAACAAAATG c.900
I A E | I M I P H E N R T S E A M Y N K M p.300
. . . | 09 . . . g.71230
AACATTTCTGAACTGAGTGCTATGATTCCCCAG | TTCGACTGGCTGGGCTACATCAAGAAG c.960
N I S E L S A M I P Q | F D W L G Y I K K p.320
. . . . . . g.71290
GTCATTGACACCAGACTCTACCCCCATCTGAAAGACATCAGCCCCTCCGAGAATGTGGTG c.1020
V I D T R L Y P H L K D I S P S E N V V p.340
. . . . . | 10 g.83665
GTCCGCGTCCCGCAGTACTTTAAAGATTTGTTTAGGATATTAGGGTCTGAGAGAAAGAA | G c.1080
V R V P Q Y F K D L F R I L G S E R K K | p.360
. . . . . . g.83725
ACCATTGCCAACTATTTGGTGTGGAGAATGGTTTATTCCAGAATTCCAAACCTTAGCAGG c.1140
T I A N Y L V W R M V Y S R I P N L S R p.380
. . . | 11 . . . g.86682
CGCTTTCAGTATAGATGGCTGGAATTCTCAAGG | GTAATCCAGGGGACCACAACTTTGCTG c.1200
R F Q Y R W L E F S R | V I Q G T T T L L p.400
. . . . . . g.86742
CCTCAATGGGACAAATGTGTAAACTTTATTGAAAGTGCCCTCCCTTATGTTGTTGGAAAG c.1260
P Q W D K C V N F I E S A L P Y V V G K p.420
. . . . | 12 . . g.105737
ATGTTTGTAGATGTGTACTTCCAGGAAGATAAGAAGGAAATG | ATGGAGGAATTGGTTGAG c.1320
M F V D V Y F Q E D K K E M | M E E L V E p.440
. . . . . . g.105797
GGCGTTCGCTGGGCCTTTATTGACATGCTAGAGAAAGAAAATGAGTGGATGGATGCAGGA c.1380
G V R W A F I D M L E K E N E W M D A G p.460
. . | 13 . . . . g.140544
ACGAAAAGGAAAGCCAAAGAAAAG | GCGAGAGCTGTTTTGGCAAAAGTTGGCTATCCAGAG c.1440
T K R K A K E K | A R A V L A K V G Y P E p.480
. . . . | 14 . . g.150487
TTTATAATGAATGATACTCATGTTAATGAAGACCTCAAAGCT | ATCAAGTTTTCAGAAGCC c.1500
F I M N D T H V N E D L K A | I K F S E A p.500
. . . . . . g.150547
GACTACTTTGGCAACGTCCTACAAACTCGCAAGTATTTAGCACAGTCTGATTTCTTCTGG c.1560
D Y F G N V L Q T R K Y L A Q S D F F W p.520
. . | 15 . . . . g.162674
CTAAGAAAAGCCGTTCCAAAAACAGA | GTGGTTTACAAATCCGACGACTGTCAATGCCTTC c.1620
L R K A V P K T E | W F T N P T T V N A F p.540
. . | 16 . . . . g.185135
TACAGTGCATCCACCAACCAGATCC | GATTTCCAGCAGGAGAGCTCCAGAAGCCTTTCTTT c.1680
Y S A S T N Q I R | F P A G E L Q K P F F p.560
. . | 17 . . . . g.191272
TGGGGAACAGAATATCCTCG | ATCTCTGAGTTATGGTGCTATAGGAGTAATTGTCGGACAT c.1740
W G T E Y P R | S L S Y G A I G V I V G H p.580
. . | 18 . . . g.193841
GAATTTACACATGGATTTGATAATAATG | GTAGAAAATATGATAAAAATGGAAACCTGGAT c.1800
E F T H G F D N N G | R K Y D K N G N L D p.600
. . . . . . g.193901
CCTTGGTGGTCTACTGAATCAGAAGAAAAGTTTAAGGAAAAAACAAAATGCATGATTAAC c.1860
P W W S T E S E E K F K E K T K C M I N p.620
. . . | 19 . . g.198660
CAGTATAGCAACTATTATTGGAAGAAAGCTGGCTTAAAT | GTCAAGGGGAAGAGGACCCTG c.1920
Q Y S N Y Y W K K A G L N | V K G K R T L p.640
. . . . | 20 . . g.199718
GGAGAAAATATTGCTGATAATGGAGGCCTGCGGGAAGCTTTTAGG | GCTTACAGGAAATGG c.1980
G E N I A D N G G L R E A F R | A Y R K W p.660
. . . . . . g.199778
ATAAATGACAGAAGGCAGGGACTTGAGGAGCCTCTTCTACCAGGCATCACATTCACCAAC c.2040
I N D R R Q G L E E P L L P G I T F T N p.680
. . . | 21 . . . g.217559
AACCAGCTCTTCTTCCTGAGTTATGCTCAT | GTGAGGTGCAATTCCTACAGACCAGAAGCT c.2100
N Q L F F L S Y A H | V R C N S Y R P E A p.700
. . . . | 22. . g.220060
GCCCGAGAACAAGTCCAAATTGGTGCTCACAGTCCCCCTCAGTTTAG | GGTCAATGGTGCA c.2160
A R E Q V Q I G A H S P P Q F R | V N G A p.720
. . . . . . g.220120
ATTAGTAACTTTGAAGAATTCCAGAAAGCTTTTAACTGTCCACCCAATTCCACGATGAAC c.2220
I S N F E E F Q K A F N C P P N S T M N p.740
. . . g.220150
AGAGGCATGGACTCCTGCCGACTCTGGTAG c.2250
R G M D S C R L W X p.749
. . . . . . g.220210
ctgggacgctggtttatggcatcctgagacagttgcacagtgccagcggaggctgcactg c.*60
. . . . . . g.220270
agccttcatcgcccattgctttaggcctggagactttcatttttagtgcattttcattat c.*120
. . . . . . g.220330
ttgggtaggtgacctgcttggatctagacagcatctgttcaaagttgtagggcttataaa c.*180
. . . . . . g.220390
gtggaatataagaatgaactaagtatgtttctttagaaaatcaaaccaacaaaaataaat c.*240
. . . . . . g.220450
ccctaggctacttttgttaaaatgctatctgctaaattgttgctattgtccattttaggg c.*300
. . . . . . g.220510
tgttggccacagttatgtggtacatagcatttcaatctatagctttgtgggaagcctaaa c.*360
. . . . g.220558
ttgatgtatcctttaaaagttcaatctattaaacttgtagcctctcaa c.*408
(downstream sequence)
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