(used for variant description)
(last modified June 14, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_006214.3 in the PHYH gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012862.1, covering PHYH transcript NM_006214.3.
(upstream sequence)
. . g.5028
agtccggggcggcgcctggaggcggagc c.-61
. . . . . . g.5088
cgcccgctgggctaaatggggcagaggccgggaggggtgggggttccccgcgccgcagcc c.-1
. . . . . . g.5148
ATGGAGCAGCTTCGCGCCGCCGCCCGTCTGCAGATTGTTCTGGGCCACCTCGGCCGCCCC c.60
M E Q L R A A A R L Q I V L G H L G R P p.20
. | 02 . . . . . g.6930
TCGGCCGGGGCTGTC | GTAGCTCATCCCACTTCAGGGACTATTTCCTCTGCCAGTTTCCAT c.120
S A G A V | V A H P T S G T I S S A S F H p.40
. | 03 . . . . . g.9570
CCTCAACAATTCCA | GTATACTCTGGATAATAACGTTCTAACCCTGGAACAGAGAAAATTT c.180
P Q Q F Q | Y T L D N N V L T L E Q R K F p.60
. . . . . . g.9630
TATGAAGAAAATGGGTTTCTAGTAATCAAAAATCTTGTACCTGATGCCGATATTCAACGC c.240
Y E E N G F L V I K N L V P D A D I Q R p.80
| 04 . . . . . . g.10589
TTTCG | GAATGAGTTTGAAAAAATCTGCAGAAAGGAGGTGAAACCATTAGGATTAACAGTA c.300
F R | N E F E K I C R K E V K P L G L T V p.100
. . . . . . g.10649
ATGAGAGATGTGACCATTTCGAAATCCGAATATGCTCCAAGTGAGAAGATGATCACGAAG c.360
M R D V T I S K S E Y A P S E K M I T K p.120
. . . . . | 05 . g.13224
GTCCAGGATTTCCAGGAAGATAAGGAGCTCTTCAGATACTGCACTCTCCCCGAG | ATTCTG c.420
V Q D F Q E D K E L F R Y C T L P E | I L p.140
. . . . . . g.13284
AAATATGTGGAGTGCTTCACTGGACCTAATATTATGGCCATGCACACAATGTTGATAAAC c.480
K Y V E C F T G P N I M A M H T M L I N p.160
. | 06 . . . . . g.16633
AAACCTCCAGATTCTG | GCAAGAAGACGTCCCGTCACCCCCTGCACCAGGACCTGCACTAT c.540
K P P D S G | K K T S R H P L H Q D L H Y p.180
. . . . . . g.16693
TTCCCCTTCAGGCCCAGCGATCTCATCGTTTGCGCCTGGACGGCGATGGAGCACATCAGC c.600
F P F R P S D L I V C A W T A M E H I S p.200
. . . . . . g.16753
CGGAACAACGGCTGTCTGGTTGTGCTCCCAGGCACACACAAGGGCTCCCTGAAGCCCCAC c.660
R N N G C L V V L P G T H K G S L K P H p.220
. | 07 . . . . g.21333
GATTACCCCAAGTGGGAG | GGGGGAGTTAACAAAATGTTCCACGGGATCCAGGACTACGAG c.720
D Y P K W E | G G V N K M F H G I Q D Y E p.240
. . . . . . g.21393
GAAAACAAGGCCCGGGTGCACCTGGTGATGGAGAAGGGCGACACTGTTTTCTTCCATCCT c.780
E N K A R V H L V M E K G D T V F F H P p.260
. . . . | 08 . g.24032
TTGCTCATCCACGGATCTGGTCAGAATAAAACCCAGGGATTCCGGAAG | GCAATTTCCTGC c.840
L L I H G S G Q N K T Q G F R K | A I S C p.280
. . . . . . g.24092
CATTTCGCCAGTGCCGATTGCCACTACATTGACGTGAAGGGCACCAGTCAAGAAAACATC c.900
H F A S A D C H Y I D V K G T S Q E N I p.300
. . . . . . g.24152
GAGAAGGAAGTTGTAGGAATAGCACATAAATTCTTTGGAGCTGAAAATAGCGTGAACTTG c.960
E K E V V G I A H K F F G A E N S V N L p.320
| 09 . . . . . g.26833
AAG | GATATTTGGATGTTTCGAGCTCGACTTGTGAAAGGAGAAAGAACCAATCTTTGA c.1017
K | D I W M F R A R L V K G E R T N L X p.338
. . . . . . g.26893
aatagccatctgctataactctttcaacagaaaaccaaaaccaaacgaaatgtctaagga c.*60
. . . . . . g.26953
aaatgttttcttaatgagatgatgtaaccttttctatcacttgttaaaagcagaaaacat c.*120
. . . . . . g.27013
gtatcaggtacttaattgcatagagttagttttgcagcacaatggtgttgctttaatgga c.*180
. . . . . . g.27073
aaaaaaaaacagtaaaagtgaaatattactgttttaaggaaaactaatttagggtggcag c.*240
. . . . . . g.27133
ccaataaaggtggttggtgtctaatttaagtgttaaatcaatttctttcattcagttagc c.*300
. . . . . . g.27193
tctttacccaagaagaagtgaatgatttggagcttagggtatgttttgtatcccctttct c.*360
. . . . . . g.27253
gataaacccattccctaccaattttatgtcataagagatttttttcccccaaatctagaa c.*420
. . . . . . g.27313
caatgtataatacattcacatctagtcaagggcataggaacggtgtcatggagtccaaat c.*480
. . g.27338
aaagtggatattcctgctcggacaa c.*505
(downstream sequence)
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