(used for variant description)
(last modified February 28, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000322.4 in the PRPH2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009176.1, covering PRPH2 transcript NM_000322.4.
(upstream sequence)
. . . . g.5046
cagcgttcaggctgccccttcttggctgggaagggcgctgaagaaa c.-241
. . . . . . g.5106
caacgcccaggaccaggactatcccctgctcaagctgtgattccgagacccctgccacca c.-181
. . . . . . g.5166
ctactgcattcacggggatcccaggctagtgggactcgacatgggtagcccccagggcag c.-121
. . . . . . g.5226
ctccctacagcttgggccatctgcacttttcccaaggccctaagtctccgcctctgggct c.-61
. . . . . . g.5286
cgttaaggtttggggtgggagctgtgctgtgggaagcaacccggactacacttggcaagc c.-1
. . . . . . g.5346
ATGGCGCTACTGAAAGTCAAGTTTGACCAGAAGAAGCGGGTCAAGTTGGCCCAAGGGCTC c.60
M A L L K V K F D Q K K R V K L A Q G L p.20
. . . . . . g.5406
TGGCTCATGAACTGGTTCTCCGTGTTGGCTGGCATCATCATCTTCAGCCTAGGACTGTTC c.120
W L M N W F S V L A G I I I F S L G L F p.40
. . . . . . g.5466
CTGAAGATTGAACTCCGAAAGAGGAGCGATGTGATGAATAATTCTGAGAGCCATTTTGTG c.180
L K I E L R K R S D V M N N S E S H F V p.60
. . . . . . g.5526
CCCAACTCATTGATAGGGATGGGGGTGCTATCCTGTGTCTTCAACTCGCTGGCTGGGAAG c.240
P N S L I G M G V L S C V F N S L A G K p.80
. . . . . . g.5586
ATCTGCTACGACGCCCTGGACCCAGCCAAGTATGCCAGATGGAAGCCCTGGCTGAAGCCG c.300
I C Y D A L D P A K Y A R W K P W L K P p.100
. . . . . . g.5646
TACCTGGCTATCTGTGTTCTCTTCAACATCATCCTCTTCCTTGTGGCTCTCTGCTGCTTT c.360
Y L A I C V L F N I I L F L V A L C C F p.120
. . . . . . g.5706
CTGCTTCGGGGCTCGCTGGAGAACACCCTGGGCCAAGGGCTCAAGAACGGCATGAAGTAC c.420
L L R G S L E N T L G Q G L K N G M K Y p.140
. . . . . . g.5766
TACCGGGACACAGACACCCCTGGCAGGTGTTTCATGAAGAAGACCATCGACATGCTGCAG c.480
Y R D T D T P G R C F M K K T I D M L Q p.160
. . . . . . g.5826
ATCGAGTTCAAATGCTGCGGCAACAACGGTTTTCGGGACTGGTTTGAGATTCAGTGGATC c.540
I E F K C C G N N G F R D W F E I Q W I p.180
. . . . | 02 . . g.23028
AGCAATCGCTACCTGGACTTTTCCTCCAAAGAAGTCAAAGA | TCGAATCAAGAGCAACGTG c.600
S N R Y L D F S S K E V K D | R I K S N V p.200
. . . . . . g.23088
GATGGGCGGTACCTGGTGGACGGCGTCCCTTTCAGCTGCTGCAATCCTAGCTCGCCACGG c.660
D G R Y L V D G V P F S C C N P S S P R p.220
. . . . . . g.23148
CCCTGCATCCAGTATCAGATCACCAACAACTCAGCACACTACAGTTACGACCACCAGACG c.720
P C I Q Y Q I T N N S A H Y S Y D H Q T p.240
. . . . . . g.23208
GAGGAGCTCAACCTGTGGGTGCGTGGCTGCAGGGCTGCCCTGCTGAGCTACTACAGCAGC c.780
E E L N L W V R G C R A A L L S Y Y S S p.260
. . . . | 03 . g.29125
CTCATGAACTCCATGGGTGTCGTCACGCTCCTCATTTGGCTCTTCGAG | GTGACCATTACA c.840
L M N S M G V V T L L I W L F E | V T I T p.280
. . . . . . g.29185
ATTGGGCTGCGCTACCTACAGACGTCGCTGGATGGTGTGTCCAACCCCGAGGAATCTGAG c.900
I G L R Y L Q T S L D G V S N P E E S E p.300
. . . . . . g.29245
AGCGAGAGCCAGGGCTGGCTGCTGGAGAGGAGCGTGCCGGAGACCTGGAAGGCCTTTCTG c.960
S E S Q G W L L E R S V P E T W K A F L p.320
. . . . . . g.29305
GAGAGTGTGAAGAAGCTGGGCAAGGGCAACCAGGTGGAAGCCGAGGGCGCAGACGCAGGC c.1020
E S V K K L G K G N Q V E A E G A D A G p.340
. . g.29326
CAGGCCCCAGAGGCTGGCTGA c.1041
Q A P E A G X p.346
. . . . . . g.29386
gggccctggggcccctcccctcccgaacactgagaaatagtgcactccaagaaacgtgga c.*60
. . . . . . g.29446
tctccccctcatccaactccgaaagtctgaatctcccaaggagggcaccatcttacagag c.*120
. . . . . . g.29506
actctccctgacggtggaatttaagtttagggtccctaaaagcatttgacacacagttgt c.*180
. . . . . . g.29566
tgaatgactgacccaaaatgtgaatgaagctaatgtgaatgtgagtgaagctcccttcag c.*240
. . . . . . g.29626
gcccgctgccctaggatatgccctcctggtgactcgggggctgtctcagacgactagccc c.*300
. . . . . . g.29686
aggacccatctttctcacacggatttagtcccaccctatggccactggccgtatctgagg c.*360
. . . . . . g.29746
gctgctccccttttagaatttacctcttatgagctccatgttgcttcactctatccaaag c.*420
. . . . . . g.29806
tgtcacttggtgcataagcacagaaatctgaaaaatggccatgttgtctttttttttttt c.*480
. . . . . . g.29866
ttttaatgccaagattgacaggttggccgtttgcttaatgccagaagttgggggaaagtt c.*540
. . . . . . g.29926
acgcttttctaagaataatggactcttaaggcattgagggctctaaacaggattctttaa c.*600
. . . . . . g.29986
tcatggagcaagagaatttcaaggcaggggattttatcccccaccaaaaacacagtgaaa c.*660
. . . . . . g.30046
ggcctgcttttgtgtcccattcacatgccctcggtcactgagtctggagtgaaccacggg c.*720
. . . . . . g.30106
ttgaggaagtcaggctgttggcgtgtcccagcaccacaccacccctaaagtgccaggtga c.*780
. . . . . . g.30166
tctcctgtggctcatcggtggaagcagtggggtaggctgctgccctgctgtggaagagga c.*840
. . . . . . g.30226
gcaacaatcagacatgagtccaccctttggagaccaggcctcagctcttggtgggcccag c.*900
. . . . . . g.30286
ggacacccacacaggtggccatcacagccccatggacaacactaattgtccacagcaaag c.*960
. . . . . . g.30346
ggcaaggaatcctctgggagcttcttccgtttcttccccccagatacccatcttgaaaaa c.*1020
. . . . . . g.30406
cactatttctggaatgcttctgcatcaaaggagattctttgagatagcccatcttcctga c.*1080
. . . . . . g.30466
gctagcaaatacaggagttttcactttctttaggaaagagaagctttcaggggaaggaga c.*1140
. . . . . . g.30526
gaatgattttgctgacttcccaagccctggtgaccagaccaaggcagggcccagcataat c.*1200
. . . . . . g.30586
tcctccagttggatgaacattcaagagagctcgttcctacctggctggagaccgaggcca c.*1260
. . . . . . g.30646
gaaggcaaaaaccagaaagggaacagtccataacttacctctgcttctgaccgatggtgt c.*1320
. . . . . . g.30706
ttgggaataggttactttggactgagtttgggttctctgctgtcctaagaacttcagtgt c.*1380
. . . . . . g.30766
agagaaaataagacttctggtgctgctggggtatgttctgggcttaattcccccaagcag c.*1440
. . . . . . g.30826
aagaccagatccaagatgtttggacaccctgtcagacgttggtcccaagtttaattagat c.*1500
. . . . . . g.30886
ttctgaatctcgttgaggccaaggaatgatccatactgaaaaaatgctgagccagccatc c.*1560
. . . . . . g.30946
tttggcaaaggtccctgagctcttgctatctctcaagagtgctgagaaccacggtgaaag c.*1620
. . . . . . g.31006
tgctgctctaggcccacaagtgtaactatgctgttaacagctgtcaatagataattaaaa c.*1680
. . g.31026
ttcatactgtatgaaaatca c.*1700
(downstream sequence)
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